Brainscape's Knowledge GenomeTM

Browse over 1 million classes created by top students, professors, publishers, and experts.


See full index

AKT > Rheumatology > Flashcards

Rheumatology Flashcards

1
Q

Give 6 clinical features of rheumatoid arthritis? what are 2 late features

A

Typical features
swollen, painful joints in hands and feet
stiffness worse in the morning
gradually gets worse with larger joints becoming involved
presentation usually insidiously develops over a few months
positive ‘squeeze test’ - discomfort on squeezing across the metacarpal or metatarsal joints

Swan neck and boutonnière deformities are late features of rheumatoid arthritis and unlikely to be present in a recently diagnosed patient.

Other presentations:
acute onset with marked systemic disturbance
relapsing/remitting monoarthritis of different large joints (palindromic rheumatism)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

Diagnosis of RA - What criteria can be used?

A

Rheumatoid arthritis: diagnosis
NICE have stated that clinical diagnosis is more important than criteria such as those defined by the American College of Rheumatology.

2010 American College of Rheumatology criteria

Target population. Patients who
1) have at least 1 joint with definite clinical synovitis
2) with the synovitis not better explained by another disease

Classification criteria for rheumatoid arthritis (add score of categories A-D;
a score of 6/10 is needed definite rheumatoid arthritis)

Key
RF = rheumatoid factor
ACPA = anti-cyclic citrullinated peptide antibody

Factor Scoring
A. Joint involvement
1 large joint 0
2 - 10 large joints 1
1 - 3 small joints (with or without involvement of large joints) 2
4 - 10 small joints (with or without involvement of large joints) 3
10 joints (at least 1 small joint) 5

B. Serology (at least 1 test result is needed for classification)
Negative RF and negative ACPA 0
Low-positive RF or low-positive ACPA 2
High-positive RF or high-positive ACPA 3

C. Acute-phase reactants (at least 1 test result is needed for classification)
Normal CRP and normal ESR 0
Abnormal CRP or abnormal ESR 1

D. Duration of symptoms
< 6 weeks 0
> 6 weeks 1

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

What is the first line antibody test for patients with suspected rheumatoid arthritis?
-How can this be detected?

A

Rheumatoid factor (RF) is a circulating antibody (usually IgM) that reacts with the Fc portion of the patients own IgG.. It is recommended as the first-line antibody test for patients with suspected rheumatoid arthritis.

RF can be detected by either
Rose-Waaler test: sheep red cell agglutination
Latex agglutination test (less specific)

RF is positive in 70-80% of patients with rheumatoid arthritis, high titre levels are associated with severe progressive disease (but NOT a marker of disease activity.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

Give 7 other conditions other than rheumatoid arthritis that have a positive rheumatoid factor

A

Other conditions associated with a positive RF include:
Felty’s syndrome (around 100%)
Sjogren’s syndrome (around 50%)
infective endocarditis (around 50%)
SLE (= 20-30%)
systemic sclerosis (= 30%)
general population (= 5%)
rarely: TB, HBV, EBV, leprosy

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

What should be tested in patients with suspected rheumatoid arthritis and who are rheumatoid factor negative?

A

Anti-cyclic citrullinated peptide antibody may be detectable up to 10 years before the development of rheumatoid arthritis. It has a key role in the diagnosis of rheumatoid arthritis, allowing early detection of patients suitable for aggressive anti-TNF therapy. It has a sensitivity similar to rheumatoid factor (around 70%) with a much higher specificity of 90-95%.

NICE recommends that patients with suspected rheumatoid arthritis who are rheumatoid factor negative should be tested for anti-CCP antibodies.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

What investigation is indicated for patients with suspected rheumatoid arthritis?

A

X-rays

NICE recommend performing x-rays of the hands and feet of all patients with suspected rheumatoid arthritis.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

Give 5 early x ray findings in rheumatoid arthritis?

A

Early x-ray findings
-loss of joint space
-juxta-articular osteoporosis
-soft-tissue swelling
-periarticular erosions
-subluxation

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

What is the initial management of rheumatoid arthritis?

A

Patients with evidence of joint inflammation should start a combination of disease-modifying drugs (DMARD) as soon as possible. Other important treatment options include analgesia, physiotherapy and surgery.

Initial therapy
-NICE recommend DMARD monotherapy +/- a short-course of bridging prednisolone. In the past dual DMARD therapy was advocated as the initial step

choices for initial DMARD monotherapy:
-methotrexate is the most widely used DMARD. Monitoring of FBC & LFTs is essential due to the risk of myelosuppression and liver cirrhosis. Other important side-effects include pneumonitis
-sulfasalazine
-leflunomide
-hydroxychloroquine: should only be considered for initial therapy if mild or palindromic disease

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

How is response to treatment monitored in rheumatoid arthritis? What is used for flares?

A

Monitoring response to treatment
NICE recommends using a combination of CRP and disease activity (using a composite score such as DAS28) to assess response to treatment

Flares
flares of RA are often managed with corticosteroids - oral or intramuscular

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

When would a TNF-inhibitor be indicated for rheumatoid arthritis? What 3 anti-TNF medications are used?

A

TNF-inhibitors
-the current indication for a TNF-inhibitor is an inadequate response to at least two DMARDs including methotrexate
-etanercept: recombinant human protein, acts as a decoy receptor for TNF-α, subcutaneous administration, can cause demyelination, risks include reactivation of tuberculosis
-infliximab: monoclonal antibody, binds to TNF-α and prevents it from binding with TNF receptors, intravenous administration, risks include reactivation of tuberculosis
-adalimumab: monoclonal antibody, subcutaneous administration

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

What is rituximab? How is this given in rheumatoid arthritis?

A

Rituximab
anti-CD20 monoclonal antibody, results in B-cell depletion
two 1g intravenous infusions are given two weeks apart
infusion reactions are common

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

what is abatacept? how is this given? is this recommended in RA?

A

Abatacept
fusion protein that modulates a key signal required for activation of T lymphocytes
leads to decreased T-cell proliferation and cytokine production
given as an infusion
not currently recommend by NICE

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

Give 3 side effects of methotrexate

A

Myelosuppression
Liver cirrhosis
Pneumonitis

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

What are 4 side effects of sulfasalazine?

A

Rashes
Oligospermia
Heinz body anaemia
Interstitial lung disease

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

What are 3 side effects of luflunomide?

A

Liver impairment
Interstitial lung disease
Hypertension

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

What are 2 side effects of hydroxychloroquine

A

Retinopathy
Corneal deposits

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
17
Q

Give 5 side effects of prednisolone

A

Cushingoid features
Osteoporosis
Impaired glucose tolerance
Hypertension
Cataracts

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
18
Q

Give 1 side effect of gold therapy

A

Proteinuria

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
19
Q

Give 2 side effects of penicillamine

A

Proteinuria
Exacerbation of myasthenia gravis

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
20
Q

Give 2 side effects of etanercept

A

Demyelination
Reactivation of tuberculosis

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
21
Q

Give 1 side effect of both infliximab and adalimumab

A

Reactivation of tuberculosis

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
22
Q

What is a common adverse effect of rituximab

A

Infusion reactions are common

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
23
Q

Give 7 poor prognostic factors for rheumatoid arthritis

A

A number of features have been shown to predict a poor prognosis in patients with rheumatoid arthritis, as listed below

Poor prognostic features
-rheumatoid factor positive
-anti-CCP antibodies
-poor functional status at presentation
-X-ray: early erosions (e.g. after < 2 years)
-extra articular features e.g. nodules
-HLA DR4
-insidious onset

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
24
Q

Extra-articular complications of rheumatoid arthritis:
-Give give 6 respiratory complications
-Give 7 ocular complications
-Give 6 other complications

A

A wide variety of extra-articular complications occur in patients with rheumatoid arthritis (RA):
-respiratory: pulmonary fibrosis, pleural effusion, -pulmonary nodules, bronchiolitis obliterans, -methotrexate pneumonitis, pleurisy
-ocular: keratoconjunctivitis sicca (most common), episcleritis, scleritis, corneal ulceration, keratitis, steroid-induced cataracts, chloroquine retinopathy
osteoporosis
-ischaemic heart disease: RA carries a similar risk to type 2 diabetes mellitus
-increased risk of infections
-depression

Less common
-Felty’s syndrome (RA + splenomegaly + low white cell count)
-amyloidosis

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
25
Q

Hydroxychloroquine
-what is the adverse effect?
-What is recommended for screening?

A

Hydroxychloroquine is used in the management of rheumatoid arthritis and systemic/discoid lupus erythematosus. It is pharmacologically very similar to chloroquine which is used to treat certain types of malaria.

Adverse effects
-bull’s eye retinopathy - may result in severe and permanent visual loss
-recent data suggest that retinopathy caused by hydroxychloroquine is more common than previously thought and the most recent RCOphth guidelines (March 2018) suggest colour retinal photography and spectral domain optical coherence tomography scanning of the macula
baseline ophthalmological examination and annual screening is generally recommened

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
26
Q

Can hydroxychloroquine be used in pregnancy? what is needed for monitoring?

A

A contrast to many drugs used in rheumatology, hydroxychloroquine may be used if needed in pregnant women.

Monitoring
the BNF advises: ‘Ask patient about visual symptoms and monitor visual acuity annually using the standard reading chart’

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
27
Q

Leflunomide:
-Give 2 contraindications

A

Leflunomide is a disease modifying anti-rheumatic drug (DMARD) mainly used in the management of rheumatoid arthritis. It has a very long half-life which should be remembered considering it’s teratogenic potential.

Contraindications
pregnancy - the BNF advises: ‘Effective contraception essential during treatment and for at least 2 years after treatment in women and at least 3 months after treatment in men (plasma concentration monitoring required’
caution should also be exercised with pre-existing lung and liver disease

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
28
Q

Give 6 adverse effects of leflunomide

A

Adverse effects
-gastrointestinal, especially diarrhoea
-hypertension
-weight loss/anorexia
-peripheral neuropathy
-myelosuppression
-pneumonitis

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
29
Q

Leflunomide:
-What is needed for monitoring?
-how is this stopped?

A

Monitoring
FBC/LFT and blood pressure

Stopping
leflunomide has a very long wash-out period of up to a year which requires co-administration of cholestyramine

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
30
Q

What is methotrexate? give 3 indication

A

Methotrexate is an antimetabolite that inhibits dihydrofolate reductase, an enzyme essential for the synthesis of purines and pyrimidines. It is considered an ‘important’ drug as whilst it can be very effective in controlling disease the side-effects may be potentially life-threatening - careful prescribing and close monitoring is essential.

Indications
inflammatory arthritis, especially rheumatoid arthritis
psoriasis
some chemotherapy acute lymphoblastic leukaemia

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
31
Q

Giver 5 adverse effects of methotrexate

A

Adverse effects
-mucositis
-myelosuppression

pneumonitis
-the most common pulmonary manifestation
similar disease pattern to hypersensitivity pneumonitis secondary to inhaled organic antigens
-typically develops within a year of starting treatment, either acutely or subacutely
-presents with non-productive cough, dyspnoea, malaise, fever

-pulmonary fibrosis

-liver fibrosis

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
32
Q

what is the advice given for patients on methotrexate considering pregnancy?

A

Pregnancy
women should avoid pregnancy for at least 6 months after treatment has stopped
the BNF also advises that men using methotrexate need to use effective contraception for at least 6 months after treatment

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
33
Q

Prescribing methotrexate:
-How is this taken?
-What need to be regularly monitored and how often?
-What should be coprescribed?
-what is the starting dose?

A

Prescribing methotrexate
-methotrexate is a drug with a high potential for patient harm. It is therefore important that you are familiar with guidelines relating to its use
-methotrexate is taken weekly, rather than daily
-FBC, U&E and LFTs need to be regularly monitored. The Committee on Safety of Medicines recommend ‘FBC and renal and LFTs before starting treatment and repeated weekly until therapy stabilised, thereafter patients should be monitored every 2-3 months’
-folic acid 5mg once weekly should be co-prescribed, taken more than 24 hours after methotrexate dose
-the starting dose of methotrexate is 7.5 mg weekly (source: BNF)
-only one strength of methotrexate tablet should be prescribed (usually 2.5 mg)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
34
Q

Give 2 interactions with methotrexate? what is used for methotrexate toxicity?

A

Interactions
-avoid prescribing trimethoprim or co-trimoxazole concurrently - increases risk of marrow aplasia
-high-dose aspirin increases the risk of methotrexate toxicity secondary to reduced excretion

Methotrexate toxicity
the treatment of choice is folinic acid

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
35
Q

What is reactive arthritis?

A

Reactive arthritis is one of the HLA-B27 associated seronegative spondyloarthropathies. It encompasses what was formerly called Reiter’s syndrome, a term which described a classic triad of urethritis, conjunctivitis and arthritis following a dysenteric illness during the Second World War. Later studies identified patients who developed symptoms following a sexually transmitted infection (post-STI, now sometimes referred to as sexually acquired reactive arthritis, SARA).

Reactive arthritis is defined as an arthritis that develops following an infection where the organism cannot be recovered from the joint.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
36
Q

Reactive arthritis:
Give the time course
Describe the arthritis
What urological symptoms are seen
What ocular symptoms are seen
What dermatological symptoms are seen

A

Features
time course
typically develops within 4 weeks of initial infection - symptoms generally last around 4-6 months
around 25% of patients have recurrent episodes whilst 10% of patients develop chronic disease

arthritis is typically an asymmetrical oligoarthritis of lower limbs

dactylitis

symptoms of urethritis

eye
conjunctivitis (seen in 10-30%)
anterior uveitis

skin
circinate balanitis (painless vesicles on the coronal margin of the prepuce)
keratoderma blenorrhagica (waxy yellow/brown papules on palms and soles)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
37
Q

Psoriatic arthritis
-What is this?

A

Psoriatic arthropathy is an inflammatory arthritis associated with psoriasis and is classed as one of the seronegative spondyloarthropathies. It correlates poorly with cutaneous psoriasis and often precedes the development of skin lesions. Around 10-20% of patients with skin lesions develop an arthropathy with males and females being equally affected.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
38
Q

give 5 patterns seen in psoriatic arthropathy

A

Patterns
symmetric polyarthritis
-very similar to rheumatoid arthritis
-30-40% of cases, most common type

asymmetrical oligoarthritis: typically affects hands and feet (20-30%)
-until recently it was thought asymmetrical oligoarthritis was the most common type, based on data from the original 1973 Moll and Wright paper. Please see the link for a comparison of more recent studies

sacroiliitis

DIP joint disease (10%)

arthritis mutilans (severe deformity fingers/hand, ‘telescoping fingers’)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
39
Q

Psoriatic arthritis
-What periarticular disease is seen? 3
-what nail changes are seen? 2

A

Other signs
psoriatic skin lesions

periarticular disease - tenosynovitis and soft tissue inflammation resulting in:
-enthesitis: inflammation at the site of tendon and ligament insertion e.g. Achilles tendonitis, plantar fascitis
-tenosynovitis: typically of the flexor tendons of the hands
-dactylitis: diffuse swelling of a finger or toe

nail changes
pitting
onycholysis

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
40
Q

what is dactylitis? what are 3 causes?

A

Dactylitis describes the inflammation of a digit (finger or toe).

Causes include:
spondyloarthritis: e.g. Psoriatic and reactive arthritis
sickle-cell disease
other rare causes include tuberculosis, sarcoidosis and syphilis

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
41
Q

What 3 features are seen on Xray in psoriatic arthritis?

A

X-ray
often have the unusual combination of coexistence of erosive changes and new bone formation
periostitis
‘pencil-in-cup’ appearance

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
42
Q

Psoriatic arthritis
-Who is this managed by?
-How does treatment differ from rheumatoid arthritis?

A

Management
should be managed by a rheumatologist

treatment is similar to that of rheumatoid arthritis (RA). However, the following differences are noted:
-mild peripheral arthritis/mild axial disease may be treated with ‘just’ an NSAID, rather than all patients being on disease-modifying therapy as with RA
-if more moderate/severe disease then methotrexate is typically used as in RA
-use of monoclonal antibodies such as ustekinumab (targets both IL-12 and IL-23) and secukinumab (targets IL-17)
-apremilast: phosphodiesterase type-4 (PDE4) inhibitor → suppression of pro-inflammatory mediator synthesis and promotion of anti-inflammatory mediators
-has a better prognosis than RA

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
43
Q

What is ankylosing spondylitis? Give 3 clinical features?

A

Ankylosing spondylitis is a HLA-B27 associated spondyloarthropathy. It typically presents in males (sex ratio 3:1) aged 20-30 years old.

Features
-typically a young man who presents with lower back pain and stiffness of insidious onset
-stiffness is usually worse in the morning and improves with exercise
-the patient may experience pain at night which improves on getting up

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
44
Q

Give 3 features on clinical examination that is seen in ankylosing spondylitis?

A

Clinical examination
-reduced lateral flexion
-reduced forward flexion - Schober’s test - a line is drawn 10 cm above and 5 cm below the back dimples (dimples of Venus). The distance between the two lines should increase by more than 5 cm when the patient bends as far forward as possible
-reduced chest expansion

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
45
Q

Give 6 ‘A’ features of ankylosing spondylitis? what else is seen?

A

Other features - the ‘A’s
-Apical fibrosis
-Anterior uveitis
-Aortic regurgitation
-Achilles tendonitis
-AV node block
-Amyloidosis
and cauda equina syndrome
peripheral arthritis (25%, more common if female)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
46
Q

what blood tests are taken in the investigation of ankylosing spondylitis?

A

Inflammatory markers (ESR, CRP) are typically raised although normal levels do not exclude ankylosing spondylitis.

HLA-B27 is of little use in making the diagnosis as it is positive in:
90% of patients with ankylosing spondylitis
10% of normal patients

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
47
Q

what is the most useful investigation to diagnose ankylosing spondylitis? what is found on this? 4

A

Plain x-ray of the sacroiliac joints is the most useful investigation in establishing the diagnosis. Radiographs may be normal early in disease, later changes include:
-sacroiliitis: subchondral erosions, sclerosis
squaring of lumbar vertebrae
-‘bamboo spine’ (late & uncommon)
-syndesmophytes: due to ossification of outer fibers of annulus fibrosus
-chest x-ray: apical fibrosis

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
48
Q

What investigation can be used if Xray is negative for sacroiliac joint involvement in ankylosing spondylitis but suspicion remains high?
What is seen on spirometry?

A

If the x-ray is negative for sacroiliac joint involvement in ankylosing spondylitis but suspicion for AS remains high, the next step in the evaluation should be obtaining an MRI. Signs of early inflammation involving sacroiliac joints (bone marrow oedema) confirm the diagnosis of AS and prompt further treatment.

Spirometry may show a restrictive defect due to a combination of pulmonary fibrosis, kyphosis and ankylosis of the costovertebral joints.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
49
Q

What is SLE? what are 4 general features?

A

Systemic lupus erythematosus (SLE) is a multisystem, autoimmune disorder. It typically presents in early adulthood and is more common in women and people of Afro-Caribbean origin.

General features
fatigue
fever
mouth ulcers
lymphadenopathy

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
50
Q

Give 6 skin features of SLE?

A

Skin
-malar (butterfly) rash: spares nasolabial folds
-discoid rash: scaly, erythematous, well demarcated rash in sun-exposed areas. Lesions may progress to become pigmented and hyperkeratotic before becoming atrophic
-photosensitivity
-Raynaud’s phenomenon
-livedo reticularis
-non-scarring alopecia

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
51
Q

Give 2 MSK features of SLE

A

Musculoskeletal
arthralgia
non-erosive arthritis

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
52
Q

give 2 cardiovascular and 2 respiratory features of SLE

A

Cardiovascular
pericarditis: the most common cardiac manifestation
myocarditis

Respiratory
pleurisy
fibrosing alveolitis

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
53
Q

Give 2 renal and 3 neuropsychiatric features of SLE?

A

Renal
proteinuria
glomerulonephritis (diffuse proliferative glomerulonephritis is the most common type)

Neuropsychiatric
anxiety and depression
psychosis
seizures

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
54
Q

Give 5 antibodies that can be used for the investigation of SLE?

A

Antibodies
99% are ANA positive
this high sensitivity makes it a useful rule out test, but it has low specificity

20% are rheumatoid factor positive

anti-dsDNA: highly specific (> 99%), but less sensitive (70%)

anti-Smith: highly specific (> 99%), sensitivity (30%)

also: anti-U1 RNP, SS-A (anti-Ro) and SS-B (anti-La)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
55
Q

Give 3 ways of disease monitoring in SLE

A

Monitoring

inflammatory markers
-ESR is generally used
-during active disease the CRP may be normal - a raised CRP may indicate underlying infection

complement levels (C3, C4) are low during active disease (formation of complexes leads to consumption of complement)

anti-dsDNA titres can be used for disease monitoring (but note not present in all patients)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
56
Q

What is discoid lupus?

A

Discoid lupus erythematosus is a benign disorder generally seen in younger females. It very rarely progresses to systemic lupus erythematosus (in less than 5% of cases). Discoid lupus erythematosus is characterised by follicular keratin plugs and is thought to be autoimmune in aetiology

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
57
Q

Give 4 features of discoid lupus

A

Features
-erythematous, raised rash, sometimes scaly
-may be photosensitive
-more common on face, neck, ears and scalp
-lesions heal with atrophy, scarring (may cause scarring alopecia), and pigmentation

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
58
Q

Giv 3 management options of discoid lupus

A

Management
-topical steroid cream
-oral antimalarials may be used second-line e.g. hydroxychloroquine
-avoid sun exposure

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
59
Q

What is drug induced lupus?

A

In drug-induced lupus not all the typical features of systemic lupus erythematosus are seen, with renal and nervous system involvement being unusual. It usually resolves on stopping the drug.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
60
Q

Give 5 features of drug-induced lupus?

A

Features
-arthralgia
-myalgia
-skin (e.g. malar rash) and pulmonary involvement (e.g. pleurisy) are common
-ANA positive in 100%, dsDNA negative
-anti-histone antibodies are found in 80-90%
-anti-Ro, anti-Smith positive in around 5%

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
61
Q

Give 2 common causes and 3 less common causes of drug induced lupus?

A

Most common causes
procainamide
hydralazine

Less common causes
isoniazid
minocycline
phenytoin

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
62
Q

What is antiphospholipid syndrome and what is found in APTT?

A

Antiphospholipid syndrome is an acquired disorder characterised by a predisposition to both venous and arterial thromboses, recurrent fetal loss and thrombocytopenia. It may occur as a primary disorder or secondary to other conditions, most commonly systemic lupus erythematosus (SLE). Around 30% of patients with SLE have positive antiphospholipid antibodies.

A key point for the exam is to appreciate that antiphospholipid syndrome causes a paradoxical rise in the APTT. This is due to an ex-vivo reaction of the lupus anticoagulant autoantibodies with phospholipids involved in the coagulation cascade.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
63
Q

Give 3 assoc of antiphospholipid syndrome other than SLE? give 4 clinical features

A

Associations other than SLE
-other autoimmune disorders
-lymphoproliferative disorders
-phenothiazines (rare)

Features
-venous/arterial thrombosis
-recurrent miscarriages
-livedo reticularis
-other features: pre-eclampsia, pulmonary hypertension

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
64
Q

Investigations in antiphospholipid syndrome - what antibodies are checked for? what is seen on FBC? what is seen on coag screen?

A

Investigations

antibodies
-anticardiolipin antibodies
-anti-beta2 glycoprotein I (anti-beta2GPI) antibodies
-lupus anticoagulant

thrombocytopenia

prolonged APTT

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
65
Q
A

Management - based on EULAR guidelines

primary thromboprophylaxis
-low-dose aspirin

secondary thromboprophylaxis
-initial venous thromboembolic events: lifelong warfarin with a target INR of 2-3
-recurrent venous thromboembolic events: lifelong warfarin; if occurred whilst taking warfarin then consider adding low-dose aspirin, increase target INR to 3-4
-arterial thrombosis should be treated with lifelong warfarin with target INR 2-3

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
66
Q

What is PMR?

A

Polymyalgia rheumatica (PMR) is a relatively common condition seen in older people characterised by muscle stiffness and raised inflammatory markers. Whilst it appears to be closely related to temporal arteritis the underlying cause is not fully understood and it does not appear to be a vasculitic process.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
67
Q

Give 5 features of polymyalgia rheumatica?

A

Features
-typically patient > 60 years old
-usually rapid onset (e.g. < 1 month)
-aching, morning stiffness in proximal limb muscles
-weakness is not considered a symptom of polymyalgia rheumatica
-also mild polyarthralgia, lethargy, depression, low-grade fever, anorexia, night sweats

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
68
Q

What investigations are used in PMR? what is the management?

A

Investigations
raised inflammatory markers e.g. ESR > 40 mm/hr
note creatine kinase and EMG normal

Treatment
prednisolone e.g. 15mg/od
patients typically respond dramatically to steroids, failure to do so should prompt consideration of an alternative diagnosis

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
69
Q

What is polymyositis? what is this associated with? what is dermatomyositit?

A

Overview
-inflammatory disorder causing symmetrical, proximal muscle weakness
-thought to be a T-cell mediated cytotoxic process directed against muscle fibres
-may be idiopathic or associated with connective tissue disorders
-associated with malignancy
-dermatomyositis is a variant of the disease where skin manifestations are prominent, for example a purple (heliotrope) rash on the cheeks and eyelids
typically affects middle-aged, female:male 3:1

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
70
Q

Give 5 features of polymyositis

A

Features
-proximal muscle weakness +/- tenderness
-Raynaud’s
-respiratory muscle weakness
-interstitial lung disease
e.g. fibrosing alveolitis or organising pneumonia
seen in around 20% of patients and indicates a poor prognosis
-dysphagia, dysphonia

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
71
Q

Give 5 investigations for polymyositis?

A

Investigations
-elevated creatine kinase

-other muscle enzymes (lactate dehydrogenase (LDH), aldolase, AST and ALT) are also elevated in 85-95% of patients

-EMG

-muscle biopsy

-anti-synthetase antibodies
anti-Jo-1 antibodies are seen in pattern of disease associated with lung involvement, Raynaud’s and fever

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
72
Q

What is the management of polymyositis?

A

Management
high-dose corticosteroids tapered as symptoms improve
azathioprine may be used as a steroid-sparing agent

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
73
Q

What is dermatomyositis? What may this be caused by? what does a diagnosis of dermatomyositis prompt investigation of?

A

Overview
-an inflammatory disorder causing symmetrical, proximal muscle weakness and characteristic skin lesions
-may be idiopathic or associated with connective tissue disorders or underlying malignancy (typically ovarian, breast and lung cancer, found in 20-25% - more if patient older). Screening for an underlying malignancy is usually performed following a diagnosis of dermatomyositis
-polymyositis is a variant of the disease where skin manifestations are not prominent

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
74
Q

Give 6 skin manifestations of dermatomyositis?

A

Skin features
-photosensitive
-macular rash over back and shoulder
-heliotrope rash in the periorbital region
-Gottron’s papules - roughened red papules over extensor surfaces of fingers
-‘mechanic’s hands’: extremely dry and scaly hands with linear ‘cracks’ on the palmar and lateral aspects of the fingers
-nail fold capillary dilatation

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
75
Q

Give 5 other features other than skin features found in dermatomyositis?

A

Other features
-proximal muscle weakness +/- tenderness
-Raynaud’s
-respiratory muscle weakness
-interstitial lung disease: e.g. Fibrosing alveolitis or organising pneumonia
-dysphagia, dysphonia

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
76
Q

What antibodies are found in dermatomyositis?

A

Investigations
-the majority of patients (around 80%) are ANA positive

around 30% of patients have antibodies to aminoacyl-tRNA synthetases (anti-synthetase antibodies), including:
-antibodies against histidine-tRNA ligase (also called Jo-1)
-antibodies to signal recognition particle (SRP)
-anti-Mi-2 antibodies

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
77
Q

What is systemic sclerosis?

A

Systemic sclerosis is a condition of unknown aetiology characterised by hardened, sclerotic skin and other connective tissues. It is four times more common in females.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
78
Q

Give 3 patterns of disease of systemic sclerosis?

A

Limited cutaneous systemic sclerosis
Diffuse cutaneous systemic sclerosis
Scleroderma

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
79
Q

Give 3 clinical features of limited cutaneous systemic sclerosis? what is a subtype?

A

-Raynaud’s may be the first sign
-scleroderma affects face and distal limbs predominately
-associated with anti-centromere antibodies
-a subtype of limited systemic sclerosis is CREST syndrome: Calcinosis, Raynaud’s phenomenon, oEsophageal dysmotility, Sclerodactyly, Telangiectasia

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
80
Q

Give 5 features of diffuse cutaneous systemic sclerosis?

A

Diffuse cutaneous systemic sclerosis
-scleroderma affects trunk and proximal limbs predominately
-associated with anti scl-70 antibodies
-the most common cause of death is now respiratory involvement, which is seen in around 80%: interstitial lung disease (ILD) and pulmonary arterial hypertension (PAH)
-other complications include renal disease and hypertension
-patients with renal disease should be started on an ACE inhibitor
-poor prognosis

81
Q

What is scleroderma? what are 2 features?

A

Scleroderma (without internal organ involvement)
tightening and fibrosis of skin
may be manifest as plaques (morphoea) or linear

82
Q

Give 4 antibodies associated with systemic sclerosis?

A

Antibodies
-ANA positive in 90%
-RF positive in 30%
-anti-scl-70 antibodies associated with diffuse cutaneous systemic sclerosis
associated with a higher risk of severe interstitial lung disease
-anti-centromere antibodies associated with limited cutaneous systemic sclerosis

83
Q

What is raynauds phenomenon?

A

Raynaud’s phenomenon is characterised by an exaggerated vasoconstrictive response of the digital arteries and cutaneous arteriole to the cold or emotional stress. It may be primary (Raynaud’s disease) or secondary (Raynaud’s phenomenon).

Raynaud’s disease typically presents in young women (e.g. 30 years old) with bilateral symptoms.

84
Q

Give 6 causes of raynauds phenomenon?

A

Secondary causes of Raynaud’s phenomenon
-connective tissue disorders: scleroderma (most common), rheumatoid arthritis, systemic lupus erythematosus
-leukaemia
-type I cryoglobulinaemia, cold agglutinins
-use of vibrating tools
-drugs: oral contraceptive pill, ergot
-cervical rib

85
Q

Give 7 factors that suggest underlying connective tissue disorder in raynauds phenomenon?

A

Factors suggesting underlying connective tissue disease
-onset after 40 years
-unilateral symptoms
-rashes
-presence of autoantibodies
-features which may suggest rheumatoid arthritis or SLE, for example arthritis or recurrent miscarriages
-digital ulcers, calcinosis
-very rarely: chilblains

86
Q

What is the management of raynauds phenomenon?

A

Management
all patients with suspected secondary Raynaud’s phenomenon should be referred to secondary care
first-line: calcium channel blockers e.g. nifedipine
IV prostacyclin (epoprostenol) infusions: effects may last several weeks/months

87
Q

What is sjogrens syndrome? Who is this most common in? what does this increase the risk of?

A

Sjogren’s syndrome is an autoimmune disorder affecting exocrine glands resulting in dry mucosal surfaces. It may be primary (PSS) or secondary to rheumatoid arthritis or other connective tissue disorders, where it usually develops around 10 years after the initial onset. Sjogren’s syndrome is much more common in females (ratio 9:1). There is a marked increased risk of lymphoid malignancy (40-60 fold).

88
Q

Give 8 features of sjogrens syndrome?

A

Features
-dry eyes: keratoconjunctivitis sicca
-dry mouth
-vaginal dryness
-arthralgia
-Raynaud’s, myalgia
-sensory polyneuropathy
-recurrent episodes of parotitis
-renal tubular acidosis (usually subclinical)

89
Q

Give 7 investigations used in sjogrens syndrome?

A

Investigation
-rheumatoid factor (RF) positive in nearly 50% of patients
-ANA positive in 70%
-anti-Ro (SSA) antibodies in 70% of patients with PSS
-anti-La (SSB) antibodies in 30% of patients with PSS
-Schirmer’s test: filter paper near conjunctival sac to measure tear formation
-histology: focal lymphocytic infiltration
-also: hypergammaglobulinaemia, low C4

90
Q

What is the management of sjogrens?

A

Management
artificial saliva and tears
pilocarpine may stimulate saliva production

91
Q

ANCA associated vasculitis: give 3 types

A

Anti-neutrophil cytoplasmic antibodies (ANCA) are important as they are associated with a number of small-vessel vasculitides, including:
-granulomatosis with polyangiitis
-eosinophilic granulomatosis with polyangiitis (Churg-Strauss syndrome)
-microscopic polyangiitis

92
Q

What are 5 common findings in ANCA assoc. vasculitis

A

ANCA associated vasculitis is more common with increasing age. Whilst each condition has its own distinct features, there are a number of common findings:
-renal impairment
caused by immune complex glomerulonephritis → raised creatinine, haematuria and proteinuria

-respiratory symptoms
dyspnoea
haemoptysiis

-systemic symptoms
fatigue
weight loss
fever

vasculitic rash: present only in a minority of patients

ear, nose and throat symptoms
-sinusitis

93
Q

What are 3 first line investigations for ANCA assoc. vasculitis

A

General approach to first-line investigations:
-urinalysis for haematuria and proteinuria

bloods:
-urea and creatinine for renal impairment
-full blood count: normocytic anaemia and thrombocytosis may be seen
-CRP: raised
-ANCA testing

-chest x-ray: nodular, fibrotic or infiltrative lesions may be seen

94
Q

What are the two main types of ANCA?

A

There are two main types of ANCA - cytoplasmic (cANCA) and perinuclear (pANCA). There is considerable overlap between which antibodies are found in which condition, but as a rule of thumb:
cANCA - granulomatosis with polyangiitis
pANCA - eosinophilic granulomatosis with polyangiitis + others (see below)

95
Q

What is the target for cANCA vs pANCA?

A

cANCA - serine proteinase 3 PR3
pANCA - myeloperoxidase MPO

96
Q

Can you use cANCA and pANCA for disease monitoring?

A

-Some correlation between cANCA levels and disease activity -Cannot use level of pANCA to monitor disease activity

97
Q

HOw common is cANCA vs pANCA in:
Granulomatosis with polyangiitis
eosinophilic granulomatosis with polyangiits
microscopic polyangiits
UC
PSC
Anti-GBM disease
Crohns disease

A

Granulomatosis with polyangiitis - cANCA 90%, pANCA 25%

eosinophilic granulomatosis with polyangiits
-cANCA low, pANCA 50%

Microscopic polyangiitis
-cANCA 40%, pANCA 75%

UC
pANCA 70%

PSC
pANCA 70%

Anti-GBM disease
pANCA 25%

Crohns disease
pANCA 20%

98
Q

What is the investigation and management of ANCA assoc. vasculitis

A

Once suspected, ANCA associated vasculitis should be managed by specialist teams (e.g. renal, rheumatology, respiratory) to allow an exact diagnosis to be made. Kidney or lung biopsies may be taken to aid the diagnosis.

The mainstay of management is immunosuppressive therapy.

99
Q

what s temporal arteritis?

A

Temporal arteritis (also known as giant cell arteritis: GCA) is a vasculitis of unknown cause that affects medium and large-sized vessels arteries. It occurs in those over 50 years old, with a peak incidence in patients who are in their 70s.

It requires early recognition and treatment to minimize the risk of complications such as permanent loss of vision. Hence, when temporal arteritis is suspected, treatment must be started promptly with high-dose prednisolone as well as urgent referral for assessment by a specialist.

There is an overlap between temporal arteritis and polymyalgia rheumatica (PMR) - around 50% of patients will have features of PMR.

100
Q

Give 8 features of temporal arteritis?

A

Features
-typically patient > 60 years old
-usually rapid onset (e.g. < 1 month)
-headache (found in 85%)
-jaw claudication (65%)
-vision testing is a key investigation in all patients
anterior ischemic optic neuropathy accounts for the majority of ocular complications. It results from occlusion of the posterior ciliary artery (a branch of the ophthalmic artery) → ischaemia of the optic nerve head. Fundoscopy typically shows a swollen pale disc and blurred margins
-may result in temporary visual loss - amaurosis fugax
-permanent visual loss is the most feared complication of temporal arteritis and may develop suddenly
-diplopia may also result from the involvement of any part of the oculomotor system (e.g. cranial nerves)
-tender, palpable temporal artery
around 50% have features of -PMR: aching, morning stiffness in proximal limb muscles (not weakness)
-also lethargy, depression, low-grade fever, anorexia, night sweats

101
Q

Give 2 investigations for temporal arteritis. Are CK and EMG deranged?

A

Investigations
raised inflammatory markers
ESR > 50 mm/hr (note ESR < 30 in 10% of patients)
CRP may also be elevated
temporal artery biopsy
skip lesions may be present
note creatine kinase and EMG normal

102
Q

What is the management of temporal arteritis?

A

Treatment

-urgent high-dose glucocorticoids should be given as soon as the diagnosis is suspected and before the temporal artery biopsy
-if there is no visual loss then high-dose prednisolone is used
if there is evolving visual loss IV methylprednisolone is usually given prior to starting high-dose prednisolone
-there should be a dramatic response, if not the diagnosis should be reconsidered

urgent ophthalmology review
patients with visual symptoms should be seen the same-day by an ophthalmologist
visual damage is often irreversible

other treatments
-bone protection with bisphosphonates is required as long, tapering course of steroids is required
-low-dose aspirin is sometimes given to patients as well, although the evidence base supporting this is weak

103
Q

What is behcets?

A

Behcet’s syndrome is a complex multisystem disorder associated with presumed autoimmune-mediated inflammation of the arteries and veins. The precise aetiology has yet to be elucidated however. The classic triad of symptoms are oral ulcers, genital ulcers and anterior uveitis

104
Q

Describe the epidemiology of behcets
-Who is this most common in?
-What is this assoc with?

A

Epidemiology
-more common in the eastern Mediterranean (e.g. Turkey)
-more common in men (complicated gender distribution which varies according to country. Overall, Behcet’s is considered to be more common and more severe in men)
-tends to affect young adults (e.g. 20 - 40 years old)
-associated with HLA B51
-around 30% of patients have a positive family history

105
Q

Give 6 clinical features of behcets

A

Features
-classically: 1) oral ulcers 2) genital ulcers 3) anterior uveitis
thrombophlebitis and deep vein thrombosis
-arthritis
-neurological involvement (e.g. aseptic meningitis)
-GI: abdo pain, diarrhoea, colitis
erythema nodosum

106
Q

What is the diagnosis of behcets?

A

Diagnosis
-no definitive test
-diagnosis based on clinical findings
-positive pathergy test is suggestive (puncture site following needle prick becomes inflamed with small pustule forming)

107
Q

wWhat is PAN?

A

Polyarteritis nodosa (PAN) is a vasculitis affecting medium-sized arteries with necrotizing inflammation leading to aneurysm formation. PAN is more common in middle-aged men and is associated with hepatitis B infection.

108
Q

Give 7 clinical features of PAN:
What 2 blood tests may be found

A

Features
-fever, malaise, arthralgia
-weight loss
-hypertension
-mononeuritis multiplex, sensorimotor polyneuropathy
-testicular pain
-livedo reticularis
-haematuria, renal failure
-perinuclear-antineutrophil cytoplasmic antibodies (ANCA) are found in around 20% of patients with ‘classic’ PAN
-hepatitis B serology positive in 30% of patients

109
Q

Give 3 features of myopathies

A

Features
symmetrical muscle weakness (proximal > distal)
common problems are rising from chair or getting out of bath
sensation normal, reflexes normal, no fasciculation

110
Q

Give 4 causes of myopathies

A

Causes
-inflammatory: polymyositis
-inherited: Duchenne/Becker muscular dystrophy, myotonic dystrophy
-endocrine: Cushing’s, thyrotoxicosis
alcohol

111
Q

when is chronic fatigue syndrome diagnosed? who is this most common in?

A

Diagnosed after at least 3 months of disabling fatigue affecting mental and physical function more than 50% of the time in the absence of other disease which may explain symptoms

Epidemiology
more common in females
past psychiatric history has not been shown to be a risk factor

112
Q

Give 11 features of chronic fatigue syndrome?

A

Fatigue is the central feature, other recognised features include
-sleep problems, such as insomnia, hypersomnia, unrefreshing sleep, a disturbed sleep-wake cycle
-muscle and/or joint pains
-headaches
-painful lymph nodes without enlargement
-sore throat
-cognitive dysfunction, such as difficulty thinking, inability to concentrate, impairment of short-term memory, and difficulties with word-finding
-physical or mental exertion makes symptoms worse
-general malaise or ‘flu-like’ symptoms
-dizziness
-nausea
-palpitations

113
Q

What is the investigation and diagnosis of chronic fatigue syndrome?

A

Investigation
NICE guidelines suggest carrying out a large number of screening blood tests to exclude other pathology e.g. FBC, U&E, LFT, glucose, TFT, ESR, CRP, calcium, CK, ferritin, coeliac screening and also urinalysis

Diagnosis
NICE publish diagnostic criteria NICE
a diagnosis is typically made if the symptoms persist for 3 months

114
Q

what is the management of chronic fatigue syndrome?

A

Management
refer to a specialist CFS service if the diagnostic criteria are met and symptoms have persisted for 3 months

energy management
a self-management strategy that involves a person with ME/CFS managing their activities to stay within their energy limit, with support from a healthcare professional

physical activity and exercise
do not advise people with ME/CFS to undertake exercise that is not part of a programme overseen by an ME/CFS specialist team
should only be recommended if patients ‘feel ready to progress their physical activity beyond their current activities of daily living’
graded exercise therapy used to be recommended but is now specifically not recommended by NICE

cognitive behavioural therapy
NICE stress this is ‘supportive’ rather than curative for CFS

115
Q

What is fibromyalgia? who is this most common in? give 4 clinical features

A

Fibromyalgia is a syndrome characterised by widespread pain throughout the body with tender points at specific anatomical sites. The cause of fibromyalgia is unknown.

Epidemiology
women are around 5 times more likely to be affected
typically presents between 30-50 years old

Features
chronic pain: at multiple site, sometimes ‘pain all over’
lethargy
cognitive impairment: ‘fibro fog’
sleep disturbance, headaches, dizziness are common

116
Q

What is the diagnosis of fibromyalgia?

A

Diagnosis is clinical and sometimes refers to the American College of Rheumatology
classification criteria which lists 9 pairs of tender points on the body. If a patient is tender in at least 11 of these 18 points it makes a diagnosis of fibromyalgia more likely

117
Q

what is the management of fibromyalgia?

A

The management of fibromyalgia is often difficult and needs to be tailored to the individual patient. A psychosocial and multidisciplinary approach is helpful. Unfortunately there is currently a paucity of evidence and guidelines to guide practice. The following is partly based on consensus guidelines from the European League against Rheumatism (EULAR) published in 2007 and also a BMJ review in 2014.
explanation
aerobic exercise: has the strongest evidence base
cognitive behavioural therapy
medication: pregabalin, duloxetine, amitriptyline

118
Q

What is ehler-danlos syndrome?

A

Ehler-Danlos syndrome is an autosomal dominant connective tissue disorder that mostly affects type III collagen. This results in the tissue being more elastic than normal leading to joint hypermobility and increased elasticity of the skin.

119
Q

Give 6 features of ehler danlos syndrome

A

Features and complications
-elastic, fragile skin
-joint hypermobility: recurrent joint dislocation
-easy bruising
-aortic regurgitation, mitral valve prolapse and aortic dissection
-subarachnoid haemorrhage
-angioid retinal streaks

120
Q

What is osteogenesis imperfecta?

A

Osteogenesis imperfecta (more commonly known as brittle bone disease) is a group of disorders of collagen metabolism resulting in bone fragility and fractures. The most common, and milder, form of osteogenesis imperfecta is type 1

Overview
autosomal dominant
abnormality in type 1 collagen due to decreased synthesis of pro-alpha 1 or pro-alpha 2 collagen polypeptides

121
Q

Give 5 features of osteogenesis imperfecta? What investigations should be normal

A

Features
-presents in childhood
-fractures following minor trauma
-blue sclera
-deafness secondary to otosclerosis
-dental imperfections are common

Investigations
adjusted calcium, phosphate, parathyroid hormone and ALP results are usually normal in osteogenesis imperfecta

122
Q

What is pagets disease? What are 4 predisposing factors?

A

Paget’s disease is a disease of increased but uncontrolled bone turnover. It is thought to be primarily a disorder of osteoclasts, with excessive osteoclastic resorption followed by increased osteoblastic activity. Paget’s disease is common (UK prevalence 5%) but symptomatic in only 1 in 20 patients. The skull, spine/pelvis, and long bones of the lower extremities are most commonly affected.

Predisposing factors

increasing age
male sex
northern latitude
family history
123
Q

Give 3 clinical features of pagets disease?

A

Clinical features - only 5% of patients are symptomatic

-the stereotypical presentation is an older male with bone pain and an isolated raised ALP
-bone pain (e.g. pelvis, lumbar spine, femur)
-classical, untreated features: bowing of tibia, bossing of skull

124
Q

Give 4 investigations for pagets disease

A

Investigations

bloods
-raised alkaline phosphatase (ALP)
-calcium and phosphate are typically normal. Hypercalcaemia may occasionally occur with prolonged immobilisation

other markers of bone turnover include
-procollagen type I N-terminal propeptide (PINP)
-serum C-telopeptide (CTx)
-urinary N-telopeptide (NTx)
-urinary hydroxyproline

x-rays
-osteolysis in early disease → mixed lytic/sclerotic lesions later
-skull x-ray: thickened vault, osteoporosis circumscripta

bone scintigraphy
-increased uptake is seen focally at the sites of active bone lesions

125
Q

What are 4 indications for treatment for pagets disease? what treatment is commonly used?

A

Management

indications for treatment include
bone pain
skull or long bone deformity
fracture
periarticular Paget’s

bisphosphonate (either oral risedronate or IV zoledronate)

calcitonin is less commonly used now

126
Q

Give 5 complications of pagets disease

A

Complications

-deafness (cranial nerve entrapment)
-bone sarcoma (1% if affected for > 10 years)
-fractures
-skull thickening
-high-output cardiac failure

127
Q

What is osteomalacia?

A

Osteomalacia describes softening of the bones secondary to low vitamin D levels that in turn lead to decreased bone mineral content. If this occurs in growing children it is referred to as rickets, with the term osteomalacia preferred for adults.

128
Q

Give 6 causes of osteomalacia?

A

Causes
-vitamin D deficiency
malabsorption
lack of sunlight
diet
-chronic kidney disease
-drug induced e.g. anticonvulsants
-inherited: hypophosphatemic rickets (previously called vitamin D-resistant rickets)
-liver disease: e.g. cirrhosis
-coeliac disease

129
Q

Give 4 features of osteomalacia

A

Features
-bone pain
-bone/muscle tenderness
-fractures: especially femoral neck
-proximal myopathy: may lead to a waddling gait

130
Q

osteomalacia: what is seen on blood tests? what is seen on xray?

A

Investigation

-bloods
low vitamin D levels
low calcium, phosphate (in around 30%)
raised alkaline phosphatase (in 95-100% of patients)

-x-ray
translucent bands (Looser’s zones or pseudofractures)

131
Q

What is the treatment of osteomalacia?

A

Treatment
-vitamin D supplmentation
a loading dose is often needed initially

-calcium supplementation if dietary calcium is inadequate

132
Q

Osteoporosis risk factors:
-what are the 2 most significant risk factors?
-What are 6 risk factors used by assessment tools?

A

Advancing age and female sex are significant risk factors for osteoporosis. The prevalence of osteoporosis increases from 2% at 50 years to more than 25% at 80 years in women.

There are many other risk factors and secondary causes of osteoporosis. We’ll start by looking at the most ‘important’ ones - these are risk factors that are used by major risk assessment tools such as FRAX:

history of glucocorticoid use
rheumatoid arthritis
alcohol excess
history of parental hip fracture
low body mass index
current smoking
133
Q

Give 7 other risk factors for osteoporosis other than female/advancing age and those used in assessment tools

A

Other risk factors

-sedentary lifestyle
-premature menopause
-Caucasians and Asians

endocrine disorders: -hyperthyroidism, hypogonadism (e.g. Turner’s, testosterone deficiency), growth hormone deficiency, hyperparathyroidism, -diabetes mellitus
-multiple myeloma, lymphoma

gastrointestinal disorders: -inflammatory bowel disease, -malabsorption (e.g. coeliac’s), gastrectomy, liver disease

chronic kidney disease

osteogenesis imperfecta, homocystinuria

134
Q

What 6 medications may worsen osteoporosis other than glucocorticoids?

A

Medications that may worsen osteoporosis (other than glucocorticoids):
-SSRIs
-antiepileptics
-proton pump inhibitors
-glitazones
-long term heparin therapy
-aromatase inhibitors e.g. anastrozole

135
Q

What are the 6 first line bloods to order for all patients with suspected osteoporosis?

A

we should order the following bloods as a minimum for all patients:
-full blood count
-urea and electrolytes
-liver function tests
-bone profile
-CRP
-thyroid function tests

136
Q

Which patients should be started on bone protection straight away on steroids?

A

The risk of osteoporosis is thought to rise significantly once a patient is taking the equivalent of prednisolone 7.5mg a day for 3 or more months. It is important to note that we should manage patients in an anticipatory, i.e. if it likely that the patient will have to take steroids for at least 3 months then we should start bone protection straight away, rather than waiting until 3 months has elapsed. A good example is a patient with newly diagnosed polymyalgia rheumatica. As it is very likely they will be on a significant dose of prednisolone for greater than 3 months bone protection should be commenced immediately.

137
Q

Describe the bone protection management of patients on glucocorticoids

A

The RCP guidelines essentially divide patients into two groups.

  1. Patients over the age of 65 years or those who’ve previously had a fragility fracture should be offered bone protection.
  2. Patients under the age of 65 years should be offered a bone density scan, with further management dependent:

T score Management
Greater than 0 Reassure
Between 0 and -1.5 Repeat bone density scan in 1-3 years
Less than -1.5 Offer bone protection

The first-line treatment is alendronate. Patients should also be calcium and vitamin D replete.

138
Q

What does the T score mean on DEXA scan?

A

Basics

T score: based on bone mass of young reference population
T score of -1.0 means bone mass of one standard deviation below that of young reference population
Z score is adjusted for age, gender and ethnic factors

T score

> -1.0 = normal
-1.0 to -2.5 = osteopaenia
< -2.5 = osteoporosis
139
Q

How should patients over the age of 75 be managed after a fragility fracture?

A

Patients >= 75 years of age

Patients who’ve had a fragility fracture and are >= 75 years of age are presumed to have underlying osteoporosis and should be started on first-line therapy (an oral bisphosphonate), without the need for a DEXA scan.

It should be noted that the 2014 NOGG guidelines have a different threshold, suggesting treatment is started in all women over the age of 50 years who’ve had a fragility fracture - ‘although BMD measurement may sometimes be appropriate, particularly in younger postmenopausal women.’

140
Q

How should patients under the age of 75 be managed after a fragility fracture?

A

If a patient is under the age of 75 years a DEXA scan should be arranged. These results can then be entered into a FRAX assessment (along with the fact that they’ve had a fracture) to determine the patients ongoing fracture risk.

141
Q

Osteoporosis treatment:
-Who is treatment indicated in?
-who should have vit D and calcium supplementation?
-What is the first line treatment? what is the second line? what is the third line?

A

Key points include

treatment is indicated following osteoporotic fragility fractures in postmenopausal women who are confirmed to have osteoporosis (a T-score of - 2.5 SD or below). In women aged 75 years or older, a DEXA scan may not be required 'if the responsible clinician considers it to be clinically inappropriate or unfeasible'
vitamin D and calcium supplementation should be offered to all women unless the clinician is confident they have adequate calcium intake and are vitamin D replete
alendronate is first-line
around 25% of patients cannot tolerate alendronate, usually due to upper gastrointestinal problems. These patients should be offered risedronate or etidronate 
strontium ranelate and raloxifene are recommended if patients cannot tolerate bisphosphonates
142
Q

Osteoporosis treatment in patients who can’ tolerate alendronate:
-what are the second line drugs?
-When can strontium ranelate or raloxefine be given?

A

the T-score criteria for risedronate or etidronate are less than the others implying that these are the second line drugs
if alendronate, risedronate or etidronate cannot be taken then strontium ranelate or raloxifene may be given based on quite strict T-scores (e.g. a 60-year-old woman would need a T-score < -3.5)
the strictest criteria are for denosumab

143
Q

What is raloxifene?
-what does this reduce the risk of? which bones does this increase bone density in? how can this affect menopause / VTE risk / breast ca

A

Raloxifene - selective oestrogen receptor modulator (SERM)
has been shown to prevent bone loss and to reduce the risk of vertebral fractures, but has not yet been shown to reduce the risk of non-vertebral fractures
has been shown to increase bone density in the spine and proximal femur
may worsen menopausal symptoms
increased risk of thromboembolic events
may decrease risk of breast cancer

144
Q

Strontium ranelate
-what is this?
-What does this increase the risk of?

A

Strontium ranelate
‘dual action bone agent’ - increases deposition of new bone by osteoblasts (promotes differentiation of pre-osteoblast to osteoblast) and reduces the resorption of bone by inhibiting osteoclasts
concerns regarding the safety profile of strontium have been raised recently. It should only be prescribed by a specialist in secondary care
due to these concerns the European Medicines Agency in 2014 said it should only be used by people for whom there are no other treatments for osteoporosis
increased risk of cardiovascular events: any history of cardiovascular disease or significant risk of cardiovascular disease is a contraindication
increased risk of thromboembolic events: a Drug Safety Update in 2012 recommended it is not used in patients with a history of venous thromboembolism
may cause serious skin reactions such as Stevens Johnson syndrome

145
Q

what is denosumab?
-How is this given?

A

Denosumab
human monoclonal antibody that inhibits RANK ligand, which in turn inhibits the maturation of osteoclasts
given as a single subcutaneous injection every 6 months
initial trial data suggests that it is effective and well tolerated

Denosumab is a relatively new treatment for osteoporosis. It is a human monoclonal antibody that prevents the development of osteoclasts by inhibiting RANKL. Remember that osteoblasts build bone, osteoclasts eat bone. It is given as a subcutaneous injection, at a dose of 60mg, every 6 months.

A larger dose of denosumab (120mg) may also be given every 4 weeks for the prevention of skeletal-related events (i.e. pathological fractures) in adults with bone metastases from solid tumours. For example, you may have noticed some of your breast cancer patients have been prescribed denosumab.

146
Q

Denosumab - what are the adverse effects? what is to be looked out for?

A

Denosumab is generally well tolerated. Dyspnoea and diarrhoea are generally considered the two most common side effects, occuring in around 1 in 10 patients. Other less common side effects include hypocalcaemia and upper respiratory tract infections.

What does the Drug Safety Update add?

Cases of atypical femoral fractures have been noted in patients taking denosumab. Doctors are advised to look out for patients complaining of unusual thigh, hip or groin pain.

147
Q

teriparatide
-What is this?

A

Teriparatide
recombinant form of parathyroid hormone
very effective at increasing bone mineral density but role in the management of osteoporosis yet to be clearly defined

148
Q

HRT / hip protectors / falls risk assessment in osteoporosis - are these effective?

A

Hormone replacement therapy
has been shown to reduce the incidence of vertebral fracture and non-vertebral fractures
due to concerns about increased rates of cardiovascular disease and breast cancer it is no longer recommended for primary or secondary prevention of osteoporosis unless the woman is suffering from vasomotor symptoms

Hip protectors
evidence to suggest significantly reduce hip fractures in nursing home patients
compliance is a problem

Falls risk assessment
no evidence to suggest reduced fracture rates
however, do reduce rate of falls and should be considered in management of high risk patients

149
Q

Describe the monitoring of treatment of osteoporosis

A

The general consensus is that patients do not require assessment of bone mineral density once bone protection has been started. This is partly because there is limited evidence of any link between improvement in bone mineral density and reduction in fracture risk.

With respect to length of treatment, the NOGG state the following in their patient-information leaflet (more detail seems to be given here than the guidelines aimed at healthcare professionals!)

A treatment review is recommended after 5 years of treatment for alendronate, risedronate or ibandronate and after 3 years for zoledronic acid. The review is likely to involve a recalculation of your fracture risk and a DXA scan.

150
Q

What are bisphosphonates? give 4 clinical uses? `

A

Bisphosphonates are analogues of pyrophosphate, a molecule which decreases demineralisation in bone. They inhibit osteoclasts by reducing recruitment and promoting apoptosis.

Clinical uses
prevention and treatment of osteoporosis
hypercalcaemia
Paget’s disease
pain from bone metatases

151
Q

Give 5 adverse effects of bisphosphonates

A

Adverse effects
-oesophageal reactions: oesophagitis, oesophageal ulcers (especially alendronate)

-osteonecrosis of the jaw
-substantially greater risk for patients receiving IV bisphosphonates in the treatment of cancer than for patients receiving oral bisphosphonates for osteoporosis or Paget’s disease
-poor dental hygiene/prior dental procedures are also a risk factor

increased risk of atypical stress fractures of the proximal femoral shaft in patients taking alendronate

acute phase response: fever, myalgia and arthralgia may occur following administration

hypocalcaemia: due to reduced calcium efflux from bone. Usually clinically unimportant

152
Q

How should patients be instructed to take bisphosphonates

A

The BNF suggests the following counselling for patients taking oral bisphosphonates
‘Tablets should be swallowed whole with plenty of water while sitting or standing; to be given on an empty stomach at least 30 minutes before breakfast (or another oral medication); patient should stand or sit upright for at least 30 minutes after taking tablet

153
Q

What should be corrected before giving bisphosphonates? How long are bisphosphonates given for?

A

Hypocalcemia/vitamin D deficiency should be corrected before giving bisphosphonates. However, when starting bisphosphonate treatment for osteoporosis, calcium should only be prescribed if dietary intake is inadequate. Vitamin D supplements are normally given.

The duration of bisphosphonate treatment varies according to the level of risk. Some authorities recommend stopping bisphosphonates at 5 years if the following apply:
patient is < 75-years-old
femoral neck T-score of > -2.5
low risk according to FRAX/NOGG

154
Q

What is an osteoma?

A

benign ‘overgrowth’ of bone, most typically occuring on the skull
associated with Gardner’s syndrome (a variant of familial adenomatous polyposis, FAP)

155
Q

What is osteochondroma? (exotosis)

A

most common benign bone tumour
more in males, usually diagnosed in patients aged < 20 years
cartilage-capped bony projection on the external surface of a bone

156
Q

What is a giant cell bone tumour

A

tumour of multinucleated giant cells within a fibrous stroma
peak incidence: 20-40 years
occurs most frequently in the epiphyses of long bones
X-ray shows a ‘double bubble’ or ‘soap bubble’ appearance

157
Q

Osteosarcoma
-Is this common?
-Where does this commonly occur?
-what can be found on XR?
-what are pedisposing factors to osteosarcooma?

A

most common primary malignant bone tumour
seen mainly in children and adolescents
occurs most frequently in the metaphyseal region of long bones prior to epiphyseal closure, with 40% occuring in the femur, 20% in the tibia, and 10% in the humerus
x-ray shows Codman triangle (from periosteal elevation) and ‘sunburst’ pattern
mutation of the Rb gene significantly increases risk of osteosarcoma (hence association with retinoblastoma)
other predisposing factors include Paget’s disease of the bone and radiotherapy

158
Q

Ewings sarcoma
-What does this appear like?
-Who is this most common in?
-Where does this most frequently occur?
-What is seen on xr
-What gene translocation is this assoc with?

A

small round blue cell tumour
seen mainly in children and adolescents
occurs most frequently in the pelvis and long bones. Tends to cause severe pain
associated with t(11;22) translocation which results in an EWS-FLI1 gene product
x-ray shows ‘onion skin’ appearance

159
Q

What is a chondrosarcoma?

A

malignant tumour of cartilage
most commonly affects the axial skeleton
more common in middle-age

160
Q

what happens to Ca / Phos / ALP / PTH in osteoporosis?

A

Ca -N
Phos - N
ALP - N
PTH - N

161
Q

what happens to Ca / Phos / ALP / PTH in osteomalacia?

A

Ca -low
Phos - low
ALP - high
PTH - high

162
Q

what happens to Ca / Phos / ALP / PTH in primary hyperparathyroidism?

A

Ca -high
Phos - low
ALP - high
PTH - high

163
Q

what happens to Ca / Phos / ALP / PTH in CKD (leads to secondary hyperparathyroidism)?

A

Ca -low
Phos - high
ALP - high
PTH - high

164
Q

what happens to Ca / Phos / ALP / PTH in pagets disease?

A

Ca -N
Phos - N
ALP - high
PTH - N

165
Q

what happens to Ca / Phos / ALP / PTH in osteopetrosis

A

Ca -N
Phos - N
ALP - N
PTH - N

166
Q

What are the XR findings of osteoarthritis?

A

Loss of joint space
Osteophytes forming at joint margins
Subchondral sclerosis
Subchondral cysts

167
Q

Describe the management of osteoarthritis?

A

NICE updated its guidelines on the management of osteoarthritis (OA) in 2022
-all patients should be offered help with weight loss, given advice about local muscle strengthening exercises and general aerobic fitness

-topical NSAIDs are first-line analgesics. Topical NSAIDs may be particualrly beneficial for patients with OA of the knee or hand NICE
-second-line treatment is oral NSAIDs
-a proton pump inhibitor should be co-prescribed with NSAIDs
these drugs should be avoided if the patient takes aspirin

NICE recommend we do not offer paracetamol or weak opioids, unless: NICE
-they are only used infrequently for short-term pain relief and
-all other pharmacological treatments are contraindicated, not tolerated or ineffective
glucosamine and strong opioids are not recommended
-non-pharmacological treatment options include walking aids for knee and hip OA
-intra-articular steroid injections may be tried if standard pharmacological treatment is ineffective
patients should be aware that they only provide short-term relief (2-10 weeks)

if conservative methods fail then refer for consideration of joint replacement

168
Q

Uric acid levels in gout - what levels would support diagnosis

A

Uric acid
NICE recommends measuring uric acid levels in suspected gout (i.e. in the acute setting)
a uric acid level ≥ 360 umol/L is seen as supporting a diagnosis
if uric acid level < 360 umol/L during a flare and gout is strongly suspected, repeat the uric acid level measurement at least 2 weeks after the flare has settled

169
Q

what is seen on synovial fluid analysis and what are the radiological features of gout?

A

Synovial fluid analysis
needle shaped negatively birefringent monosodium urate crystals under polarised light

Radiological features of gout include:
-joint effusion is an early sign
-well-defined ‘punched-out’ erosions with sclerotic margins in a juxta-articular distribution, often with overhanging edges
-relative preservation of joint space until late disease
-eccentric erosions
-no periarticular osteopenia (in contrast to rheumatoid arthritis)
-soft tissue tophi may be seen

170
Q

Describe the acute management of gout

A

Acute management
-NSAIDs or colchicine are first-line
the maximum dose of NSAID should be prescribed until 1-2 days after the symptoms have settled
gastroprotection (e.g. a proton pump inhibitor) may also be indicated

-colchicine
inhibits microtubule polymerization by binding to tubulin, interfering with mitosis. Also inhibits neutrophil motility and activity
has a slower onset of action
may be used with caution in renal impairment: the BNF advises to reduce the dose if eGFR is 10-50 ml/min and to avoid if eGFR < 10 ml/min BNF
the main side-effect is diarrhoea

-oral steroids may be considered if NSAIDs and colchicine are contraindicated.
a dose of prednisolone 15mg/day is usually used

-another option is intra-articular steroid injection

-if the patient is already taking allopurinol it should be continued

171
Q

Describe the indications for urate=lowering therapy

A

Indications for urate-lowering therapy (ULT)
the British Society of Rheumatology Guidelines now advocate offering urate-lowering therapy to all patients after their first attack of gout
ULT is particularly recommended if:
->= 2 attacks in 12 months
-tophi
-renal disease
-uric acid renal stones
-prophylaxis if on cytotoxics or diuretics

172
Q

Describe what is used for urate lowering therapy in gout?

A

allopurinol is first-line
-initial dose of 100 mg od, with the dose titrated every few weeks to aim for a serum uric acid of < 360 µmol/l CKS
-a lower target uric acid level below 300 µmol/L may be considered for patients who have tophi, chronic gouty arthritis or continue to have ongoing frequent flares despite having a uric acid below 360 µmol/L
-a lower initial dose of allopurinol should be given if the patient has a reduced eGFR
-colchicine cover should be considered when starting allopurinol. NSAIDs can be used if colchicine cannot be tolerated. The BSR guidelines suggest this may need to be continued for 6 months

the second-line agent when allopurinol is not tolerated or ineffective is febuxostat (also a xanthine oxidase inhibitor)

in refractory cases other agents may be tried:
uricase (urate oxidase) is an enzyme that catalyzes the conversion of urate to the degradation product allantoin. It is present in certain mammals but not humans

in patients who have persistent symptomatic and severe gout despite the adequate use of urate-lowering therapy, pegloticase (polyethylene glycol modified mammalian uricase) can achieve rapid control of hyperuricemia. It is given as an infusion once every two weeks

173
Q

What lifestyle modifications should be advised for patients who suffer with gout?

A

Lifestyle modifications
reduce alcohol intake and avoid during an acute attack
lose weight if obese
avoid food high in purines e.g. Liver, kidneys, seafood, oily fish (mackerel, sardines) and yeast products

174
Q

Gout:
-What may be stopped?
-What may be started other than acute management / urate lowering therapy
-what vitamin may be helpful?

A

Other points
-consideration should be given to stopping precipitating drugs (such as thiazides)
-losartan has a specific uricosuric action and may be particularly suitable for the many patients who have coexistent hypertension
-increased vitamin C intake (either supplements or through normal diet) may also decrease serum uric acid levels

175
Q

What 3 predisposing factors to gout cause decreased excretion of uric acid?

A

Decreased excretion of uric acid
drugs:
diuretics
chronic kidney disease
lead toxicity

176
Q

What 3 predisposing factors to gout causeincreased production of uric acid?

A

Increased production of uric acid
myeloproliferative/lymphoproliferative disorder
cytotoxic drugs
severe psoriasis

177
Q

How does lesch-nyhan syndrome predispose to gout?

A

Lesch-Nyhan syndrome
hypoxanthine-guanine phosphoribosyl transferase (HGPRTase) deficiency
x-linked recessive therefore only seen in boys
features: gout, renal failure, neurological deficits, learning difficulties, self-mutilation

178
Q

what is pseudogout?

A

Pseudogout is a form of microcrystal synovitis caused by the deposition of calcium pyrophosphate dihydrate crystals in the synovium. For this reason, it is now more correctly termed acute calcium pyrophosphate crystal deposition disease.

179
Q

what are 7 risk factors for pseudogout?

A

Pseudogout is strongly associated with increasing age. Patients who develop pseudogout at a younger age (e.g. < 60 years) usually have some underlying risk factor, such as:
haemochromatosis
hyperparathyroidism
low magnesium, low phosphate
acromegaly, Wilson’s disease

180
Q

Give 4 features of pseudogout

A

Features
-knee, wrist and shoulders most commonly affected
-joint aspiration: weakly-positively birefringent rhomboid-shaped crystals
-x-ray: chondrocalcinosis
-in the knee this can be seen as linear calcifications of the meniscus and articular cartilage

181
Q

What is the management of pseudogout?

A

Management
aspiration of joint fluid, to exclude septic arthritis
NSAIDs or intra-articular, intra-muscular or oral steroids as for gout

182
Q

What is the association of HLA-A3?

A

HLA-A3
-haemochromatosis

183
Q

What is the association with HLA-B51

A

HLA-B51
Behcet’s disease

184
Q

Give 4 associations with HLA-B27

A

ankylosing spondylitis
reactive arthritis
acute anterior uveitis
psoriatic arthritis

185
Q

Give an association with HLA-DQ2/Dq8

A

HLA-DQ2/DQ8
coeliac disease

186
Q

Give 2 assoc. with HLA-DR2

A

HLA-DR2
narcolepsy
Goodpasture’s

187
Q

Give 3 associations with HLA-DR3

A

HLA-DR3
dermatitis herpetiformis
Sjogren’s syndrome
primary biliary cirrhosis

188
Q

Give 2 associations with HLA-DR4

A

HLA-DR4
type 1 diabetes mellitus
rheumatoid arthritis - in particular the DRB1 gene (DRB104:01 and DRB104:04 hence the association with DR4)

189
Q

What is marfans syndrome?

A

Marfan’s syndrome is an autosomal dominant connective tissue disorder. It is caused by a defect in the FBN1 gene on chromosome 15 that codes for the protein fibrillin-1. It affects around 1 in 3,000 people.

190
Q

Give 10 features of marfans

A

Features
tall stature with arm span to height ratio > 1.05

high-arched palate

arachnodactyly

pectus excavatum

pes planus

scoliosis of > 20 degrees

heart:
dilation of the aortic sinuses (seen in 90%) which may lead to aortic aneurysm, aortic dissection, aortic regurgitation
mitral valve prolapse (75%),

lungs: repeated pneumothoraces

eyes:
upwards lens dislocation (superotemporal ectopia lentis)
blue sclera
myopia

dural ectasia (ballooning of the dural sac at the lumbosacral level)

191
Q

What is the leading cause of death marfans

A

The life expectancy of patients used to be around 40-50 years. With the advent of regular echocardiography monitoring and beta-blocker/ACE-inhibitor therapy this has improved significantly over recent years. Aortic dissection and other cardiovascular problems remain the leading cause of death however.

192
Q

What is mcardles disease?

A

Overview
-autosomal recessive type V glycogen storage disease
-caused by myophosphorylase deficiency
-this causes decreased muscle glycogenolysis

193
Q

Give four features of mcardles disease?

A

Features
muscle pain and stiffness following exercise
muscle cramps
myoglobinuria
low lactate levels during exercise

194
Q

What are the rotator cuff muscles and what are the actions?

A

SItS - small t for teres minor

Supraspinatus
Infraspinatus
teres minor
Subscapularis

Muscle Notes
Supraspinatus aBDucts arm before deltoid
Most commonly injured
Infraspinatus Rotates arm laterally
teres minor aDDucts & rotates arm laterally
Subscapularis aDDuct & rotates arm medially

195
Q

Describe a type 1 hypersensitivity reaction

A

Anaphalactic/Atopy`
-Antigen reacts with IgE bound to mast cells

196
Q

Describe a type 2 hypersensitivity reaction

A

Type II - cell bound
-IgG or IgM binds to antigen on cell surface

  • Autoimmune haemolytic anaemia
  • ITP
  • Goodpasture’s syndrome
  • Pernicious anaemia
  • Acute haemolytic transfusion reactions
  • Rheumatic fever
  • Pemphigus vulgaris / bullous pemphigoid
197
Q

Describe a Type III hypersensitivity reaction

A

Type III - Immune complex
-Free antigen and antibody (IgG, IgA) combine

  • Serum sickness
  • Systemic lupus erythematosus
  • Post-streptococcal glomerulonephritis
  • Extrinsic allergic alveolitis (especially acute phase)
198
Q

Describe a type IV hypersensitivity reaction

A

Type IV - Delayed hypersensitivity
-T-cell mediated

  • Tuberculosis / tuberculin skin reaction
  • Graft versus host disease
  • Allergic contact dermatitis
  • Scabies
  • Extrinsic allergic alveolitis (especially chronic phase)
  • Multiple sclerosis
  • Guillain-Barre syndrome
199
Q
A

AKT (28 decks)

Brainscape helps you reach your goals faster, through stronger study habits.
© 2024 Bold Learning Solutions. Terms and Conditions