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Rheumatology > Other Rheum > Flashcards

Other Rheum Flashcards

1
Q

Characteristics of Marfan’s syndrome

A
  • Autosomal dominant disease caused by mutation of fibrillin 1 gene on chromosome 15
  • Defective fibrillin = defective elastin = defective connective tissue throughout the body

Clinical features

  • tall stature with disproportionately long extremities, joint hypermobility
  • Arachnodactyly
  • Anterior thoracic deformity; Pectus excavatum, pectus carinatum
  • Spinal curvature: scoliosis, kyphosis
  • Pes planus
  • Heart: dilation of the aortic sinuses (seen in 90%) which may lead to aortic aneurysm, aortic dissection, aortic regurgitation, mitral valve prolapse (75%),
  • Lens subluxation usually superiorly
  • High arch palate
  • lungs: repeated pneumothoraces
  • eyes: upwards lens dislocation (superotemporal ectopia lentis), blue sclera, myopia
  • dural ectasia (ballooning of the dural sac at the lumbosacral level)

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.

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2
Q

Characteristics of Ehlers Danlos

A

Autosomal dominant

Classic type: mutations in COL5A1, COL5A2 causing type V collage defect
Vascular type: type III procollagen defect

Defective collagen cross linking and fibril synthesis

Clinical features

  • Joint hypermobility
  • Skin hyperextensibility
  • Heart valve defects especially mitral valve prolapse
  • Aneurysms and dissections of the illiac, splenic, renal arteries or aorta

Skin:

  • Pizogenic papules
  • Molluscoid pseudotumours

Diagnosis based on family history
Genetic consultation

EDS subcategories include the benign hypermobility type, the more severe kyphoscoliotic type, and the life-threatening vascular
type in which large- to medium-sized vessels and organs such as the uterus or bowel can rupture.

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3
Q

Characteristics of Menkes disease

A
  • X linked recessive neurodegenerative disease caused by mutation in the gene ATP7A (code for copper transporting ATPase 1)

Defective copper transporting ATPase 1 –> impaired copper absorption and transport –> reduced activity of copper dependent enzymes (lysl oxidase) –> defective collagen crosslinking and fibril synthesis

Sparse fragile kinky hair
Increased risk of cerebral aneurysm
Decreased copper and ceruloplsmin levels

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4
Q

Characteristics of osteogenesis imperfecta

A
  • Autosomal dominant bone disorder due to mutation in COL1A1 or COL1A2 genes
  • Decreased synthesis of type 1 collagen

Clinical features

  • Brittle bone and frequent and/or multiple fractures from minimal trauma
  • Growth retardation/short stature
  • Skeletal deformities
  • Blue sclera
  • Progressive hearing loss due to abnormal ossicles

Ix: calcium phosphate pth and alp normal
adjusted calcium, phosphate, parathyroid hormone and ALP results are usually normal in osteogenesis imperfecta

Tx: bisphonates

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5
Q

Characteristics of scurvy

A

Vitamin C deficiency
Defect in hydroxylation of proline and lysine residues in procollagen - production of abnormal collagen with decreased tensile strength

Clinical features

  • Swollen gums
  • Mucosal bleeding
  • Poor wound healing
  • Curly body hair
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6
Q

Menkes vs wilsons

A

A for Absent copper and B for a Bunch of copper

In Menkes disease, the ATP7A gene is defective, resulting in decreased copper levels

In Wilsons disease, the ATP7B gene is defective which leads to high copper levels

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7
Q

Similarity between Marfans and Ehlers Danlos syndrome

A

Both associated with reduced lysyl oxidase activity, resulting in defective collagen cross-linking and fibril synthesis

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8
Q

Characteristics of IgG4 related disease

  • associated conditions
  • treatment
A
  • Characterised by abundant IgG4 producing plasma cells seen on tissue biopsy, enlargement of the affected tissue and clinical consequences that enlargement entails.
  • Elevated IgG4 levels (only in 70% of pts)

Associated Conditions

  • Riedel thyroiditis (thyroid)
  • Autoimmune pancreatitis (pancreas)
  • Tubulointerstitial nephropathy (kidney)
  • Sclerosing cholangitis (biliary tract)

Treatment

  • Prednisone
  • Azathioprine, mycophenolate and methotrexate as glucocorticoid sparing agents
  • Rituximab
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9
Q

Characteristics of adult onset stills disease

A
  • High spiking fevers
  • Salmon rash on torso and proximal limbs
  • Arthritis - symmetrical polyarthritis
  • High ferritin
  • Lymphadenopathy
  • ANA/RF negative

Therapy for AOSD includes high-dose NSA!Ds and/or
prednisone, with methotrexate as a standard second-line
agent. Recently, treatment approaches employing anti-lL-1 (for example, anakinra) or anti-IL-6 (for example, tocilizumab) therapies have shown significant promise.

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10
Q

Characteristics of familial Mediterranean fever

A

Familial Mediterranean fever (FMF) is an autosomal RECESSIVE, hereditary inflammatory disorder characterised by reoccurring episodes of abdominal pain, fever, arthralgia, and chest pain

  • Hereditary autoinflammatory disorder characterised by recurrent, self-limiting fever attacks, serositis and often other inflamed tissue
  • Autosomal recessive mutation in MEFV gene on chromosome 16

Clinical presentation:

  • fevers lasting 1-3 days that recur over weeks to months
  • abdominal pain and arthralgia
  • chest pain due to pleuritis and percarditis
  • Scrotal pain due to inflammation of tunic vaginalis
  • Chest pain (40%): due to pleuritis and sometimes pericarditis
  • Scrotal pain: due to inflammation of the tunica vaginalis
  • Myalgia
  • Erysipeloid
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11
Q

What is a complication of familial Mediterranean fever?

A

AA amyloidosis

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12
Q

Treatment for familial Mediterranean fever

A

Colchicine

If resistant can use IL-1 inhibitors like anakinra, canakinumab

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13
Q

General rule for rheum patients

A
  • If skin/joint involvement: MTX or HCQ

- If organ involvement: mycophenolate, azathioprine

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14
Q

Characteristics of fibromyalgia

A

Chronic widespread pain, tenderness of skin and muscles to pressure, fatigue, sleep disturbance and exercise intolerance.
Morning stiffness
Unrefreshing sleep
Cognitive dysfunction - fibrofog (poor memory)

Diagnosis is self reported pain for at least 3 months at 19 different locations along with a severity score for 3 reported symptoms: fatigue, waking unrefreshed, cognitive symptoms.

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15
Q

What autoimmune conditions are common with fibromyalgia?

A

RA
SLE
Sjogren

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16
Q

Treatment for fibromyalgia

A

Sleep hygiene
Aerobic Exercise
CBT

3 medications approved

  • pregabalin
  • SNRI: duloxetine, milnacipran

Avoid opioids, paracetamol, NSAIDs

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17
Q

Diagnosis of diffuse idiopathic skeletal hyperostosis (DISH)

A
  • Middle aged to older
  • Thoracic spine very commonly involved
  • SI joint spared, facet joints not ankylosed

Characterised by calcification of the enthesis regions (where the tendons/ligaments insert into the bone) and the spinal ligaments

  • Presence of flowing osteophytes along the anterolateral aspect of at least 4 contiguous vertebral bodies (most easily detected in thoracic spine), preserved vertebral height
  • More common in men, in middle aged to older patients
  • Thoracic spine involvement very common
  • SI joint spared, facet joints not ankylosed
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18
Q

What are the most commonly affected joints in osteoarthritis?

A 
Knees
Hips 
Apophyseal joints of the spine 
1st carpometacarpal - normally first joint affected DIP (Heberden) and PIP (Bouchard) of hands
DIP>PIP
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19
Q

Xray findings of OA

A 
LOSS 
Loss of joint space 
Osteophytes 
Subchondral sclerosis 
Subchondral cysts
20
Q

If someone has a painful leg, where do you hold the walking stick?

A

Canes should be held on the opposite side from the affected joint (good leg)

21
Q

Where are the different types of collagen found and related conditions?

A
  • Type 1 is in bONE, osteogenesis imperfecta causing decreased production
  • Type 2: in carTWOlage, found in achondrogenesis type II
  • Type III: vascular type of Ehler Danlose snydrome
  • Type IV: is under the FLOOR (part of basement membrane)
    Alport syndrome: decreased production
    Goodpasture syndrome: autoantibodies target type IV collagen
  • Type V: bone/skin/fetal tissue/placenta
    Classic type of Ehlers Danlos
22
Q

Characteristics of avascular necrosis

A

Avascular necrosis (AVN) may be defined as death of bone tissue secondary to loss of the blood supply. This leads to bone destruction and loss of joint function. It most commonly affects the epiphysis of long bones such as the femur.

Causes
	• long-term steroid use
	• chemotherapy
	• alcohol excess
	• trauma
Features
	• initially asymptomatic
	• pain in the affected joint
Investigation
	• plain x-ray findings may be normal initially. Osteopenia and microfractures may be seen early on. Collapse of the articular surface may result in the crescent sign
	• MRI is the investigation of choice. It is more sensitive than radionuclide bone scanning
Management
joint replacement may be necessary
23
Q

MOA + SE of azathioprine

A

Azathioprine is metabolised to the active compound mercaptopurine, a purine analogue that inhibits purine synthesis. A thiopurine methyltransferase (TPMT) test may be needed to look for individuals prone to azathioprine toxicity.

Adverse effects include
bone marrow depression
nausea/vomiting
pancreatitis
increased risk of non-melanoma skin cancer

A significant interaction may occur with allopurinol and hence lower doses of azathioprine should be used.

Azathioprine is generally considered safe to use in pregnancy.

24
Q

Characteristics of lyme disease

A
  • Caused by tick Borrelia burgdorferi
  • Symptoms - think of someone making a FACE when biting into a lime
    Facial nerve palsy
    Arthritis (asymmetrical)
    Carditis
    Erythema migrans
  • Treatment:
    Doxycycline or amoxicillin or cefuroxime
    Recurrent arthritis: IV ceftriaxone.
25
Q

ANA pattern, associated disease and associated autoantibodies

A
  • Centromere: CREST/limited scleroderma, anti-centromere
  • Diffuse (homogenous): RA/SLE/drug induced lupus
    Anti dsDNA
    Anti histone
    Anti nucelosome
  • Nucleolar: SLE, systemic sclerosis
    anti-nucleolar
    anti-SCL70
  • Peripheral: SLE, anti-dsDNA
  • Speckled:
    SLE, systemic sclerosis, CREST, sjogrens, mixed connective tissue disease, DM/PM
    anti-smith, RNP, Ro, La, Mi2, jo1, SCL70
26
Q

Features of Relapsing polychondritis

A

Relapsing polychondritis is a multi-systemic condition characterised by repeated episodes of inflammation and deterioration of cartilage. This most commonly affects the ears, however, can affect other parts of the body such as the nose and joints.

Key features:
Ears: auricular chondritis, hearing loss, vertigo
Nasal: nasal chondritis → saddle-nose deformity
Respiratory tract: e.g. hoarseness, aphonia, wheezing, inspiratory stridor
Ocular: episcleritis, scleritis, iritis, and keratoconjunctivitis sicca
Joints: arthralgia
Less commonly: cardiac valvular regurgitation, cranial nerve palsies, peripheral neuropathies, renal dysfunction

Diagnosis:
Various scoring systems based on clinical, pathological, and radiological criteria

Treatment
Induce remission: steroids
Maintenance: azathioprine, methotrexate, cyclosporin, cyclophosphamide

27
Q

What are the rotator cuff muscles

A

SItS

Supraspinatus
Infraspinatus
Teres Minor
Subscapularis

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

28
Q

What are glycogen storage disorders?

A
  • Glycogen storage disorders are hereditary metabolic disorders characterized by defects in the enzymes responsible for glycogenolysis or glycolysis
  • Autosomal RECESSIVE

6 main types - a Very Presumptuous Corgi Ambles in the the Middle of the Highway

  • Type 1: von Gierke, glucose 6 phosphatase mutation on chromosome 17
  • Type 2: pompe - GAA gene mutation on chromosome 17 leading to lysosomal a-1,4 glucosidase deficiency
  • Type 3: Cori disease
  • Type 4: Andersen
  • Type 5: McArdle
  • Type 6: Hers disease

.

29
Q

What is McArdle’s Disease

A

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

Features

  • muscle pain and stiffness following exercise
  • muscle cramps
  • myoglobinuria
  • low lactate levels during exercise because not enough glucose is produced

Generalized muscle weakness, exercise intolerance (with a second wind phenomenon): Symptoms of muscle fatigue disappear after a period of activity because of increased muscular blood flow.

  • Glycogen accumulates in muscles, but can not be metabolized due to enzyme deficiency
  • Normal serum glucose

McArdle affects the Muscles

30
Q

Features of von gierke disease

A
  • Type 1
  • Autosomal RECESSIVE
  • Mutation of glucose 6 phosphatase located on chromosome
  • Glycogen unable to be broken down to glucose so cause hypoglycaemia, weakness, poor growth.
  • Due to accumulation of glucose 6 phosphate, this causes
    (a) Increased pyruvate: lactic acidosis
    (b) Increased acetyl CoA: hypertriglyceridemia, hyperlipidemia
    (c) Increased ribose 5 phosphate: hyperuricemia
  • Cause neurological abnormalities: seizures, lethargy, weakness due to hypoglycemia
  • Growth and developmental delay
  • Hepatomegaly

Ix
Genetic testing for glucose 6 phosphatase mutation on chromosome 17

Tx
Diet of complex carbs
Avoid fructose and galactose as they can break down to glucose 6 phosphate

31
Q

Features of Pompe disease

A
  • Type 2 glycogen storage disorder
  • Autosomal RECESSIVE
  • Mutation of GAA gene –> prevent the production of lysosomal acid alpha-1,5 glucosidase –> prevents glycogen breakdown and glycogen buildup cause cellular damage and destruction
Infantile Form 
- Little or no enzyme
- First few months of life 
- HOCM, skeletal muscle weakness (diaphragm and other breathing muscles)
- Enlarged liver due to heart failure
- Large tongue 
Pompe punishes Pump, Liver and Muscle

Late Onset

  • Reduced enzyme
  • Any age
  • Proximal limb weakness
  • Progressive diaphragm weakness
  • Does not have heart inovlvement
Ix 
- Elevated CK 
- Low a- glucosidase 
- Gene sequencing GAA 
Tx 
- Enzyme replacement

Pompe: tend to have predominant respiratory muscle weakness as presenting weakness

32
Q

Iliopsoas Abscess

A

An iliopsoas abscess describes a collection of pus in iliopsoas compartment (iliopsoas and iliacus).

Primary
Haematogenous spread of bacteria
Staphylococcus aureus: most common

Secondary
Crohn's (commonest cause in this category)
Diverticulitis, colorectal cancer
UTI, GU cancers
Vertebral osteomyelitis
Femoral catheter, lithotripsy
Endocarditis
intravenous drug use

Note the mortality rate can be up to 19-20% in secondary iliopsoas abscesses compared with 2.4% in primary abscesses.

Clinical features
Fever
Back/flank pain
Limp
Weight loss

Clinical examination
Patient in the supine position with the knee flexed and the hip mildly externally rotated
Specific tests to diagnose iliopsoas inflammation:
Place hand proximal to the patient’s ipsilateral knee and ask patient to lift thigh against your hand. This will cause pain due to contraction of the psoas muscle.
Lie the patient on the normal side and hyperextend the affected hip. This should elicit pain as the psoas muscle is stretched.

Investigation
CT abdomen is the investigation of choice

Management
Antibiotics
Percutaneous drainage is the initial approach and successful in around 90% of cases
Surgery is indicated if:
1. Failure of percutaneous drainage
2. Presence of an another intra-abdominal pathology which requires surgery

33
Q

Langerhans cell histiocytosis

A

Langerhans cell histiocytosis is a rare condition associated with the abnormal proliferation of histiocytes. It typically presents in childhood with bony lesions.

Features

  • bone pain, typically in the skull or proximal femur
  • cutaneous nodules
  • recurrent otitis media/mastoiditis
  • tennis racket-shaped Birbeck granules on electromicroscopy

This patient presented with the signs and symptoms of Langerhans cell histiocytosis. This is supported by the clinical manifestation of recurrent otitis media, skin rash and the lytic bone lesions. Langerhans cell histiocytosis is a multi-system disease and it is a proliferative condition of the dendritic cells in the skin. The disease involves the formation of multiple granulomas throughout the body. It commonly presents in childhood but can also be found in adults A classic electron microscopic finding of a biopsy which helps identify the condition is the presence of Birbeck granules which are tennis-racket shaped.

34
Q

Pseudoxanthoma elasticum

A

Pseudoxanthoma elasticum is an inherited condition (usually autosomal recessive*) characterised by an abnormality in elastic fibres.
characterized by the accumulation of deposits of calcium and other minerals (mineralization) in elastic fibers.

Features
retinal angioid streaks
‘plucked chicken skin’ appearance - small yellow papules on the neck, antecubital fossa and axillae
cardiac: mitral valve prolapse, increased risk of ischaemic heart disease
gastrointestinal haemorrhage

35
Q

Adhesive capsulitis (frozen shoulder)

A
  • External rotation is classically impaired in adhesive capsulitis

Adhesive capsulitis presents as a painful stiff shoulder with restriction of active and passive range of motion in abduction, internal and external rotation. However external rotation often shows the most marked restriction and is the first movement to show impairment.

  • Patients often report difficulty sleeping on the affected side.
  • Other indications that the answer is adhesive capsulitis, include coexisting diabetes, female gender and symptoms in the non-dominant hand, all of which are common findings in this condition

Adhesive capsulitis (frozen shoulder) is a common cause of shoulder pain. It is most common in middle-aged females. The aetiology of frozen shoulder is not fully understood.

Associations
diabetes mellitus: up to 20% of diabetics may have an episode of frozen shoulder

Features typically develop over days
external rotation is affected more than internal rotation or abduction
both active and passive movement are affected
patients typically have a painful freezing phase, an adhesive phase and a recovery phase
bilateral in up to 20% of patients
the episode typically lasts between 6 months and 2 years

The diagnosis is usually clinical although imaging may be required for atypical or persistent symptoms.

Management
no single intervention has been shown to improve outcome in the long-term
treatment options include NSAIDs, physiotherapy, oral corticosteroids and intra-articular corticosteroids

36
Q

Spinal Stenosis

A
  • Usually gradual onset
  • Unilateral or bilateral leg pain (with or without back pain), numbness, and weakness which is worse on walking. Resolves when sits down. Pain may be described as ‘aching’, ‘crawling’.
  • Relieved by sitting down, leaning forwards and crouching down
  • Clinical examination is often normal
  • Requires MRI to confirm diagnosis
37
Q

Relapsing polychondritis

A

Relapsing polychondritis is a rare autoimmune disorder characterised by recurrent episodes of inflammation and destruction of cartilaginous tissues resulting in widespread chondritis of the auricular, nasal, and tracheal cartilages as described in this case. Clinical features can include recurrent chondritis of the laryngotracheobronchitis tree and potentially end up with life-threatening laryngotracheal stenosis

38
Q

OA and CVD

A
  • Approx 3x increased CV mortality and double all cause mortality with radiographic knee but not hand
39
Q

Risk factors for OA

A
  • Age: strongest
  • Dysplasia of the hip - OA occurs younger
  • Obesity
  • Vitamin K analgoues
  • Lack of osteoporosis - higher bone mass
  • Occupation
  • Previous injury
  • Muscle weakness
40
Q

Physical activity and OA

A
  • Normal joints are at increased risk of developing OA in the absence of adequate exercise
  • Normal joints are not at increased risk upon exposure to repetitive, low impact, recreational exercise
  • Abnormal joints are at increased risk upon exposure to repetitive, low impact recreation exercise
  • Normal joints are at increased risk upon exposure to repetitive, high impact exercise
41
Q

Symptoms of OA

A 
Pain
Loss of  function 
Morning stiffness 
Swelling
Deformity
42
Q

Xray changes of OA

A

LOSS

  • Loss of joint space
  • Osteophyte
  • Subchondral cysts
  • Subchondral sclerosis
43
Q

OA pain management

A

NSAIDs - oral, topical
Duloxetine - if fails nsaids
Topical capsacin may be helpful
Opioids - not recommended
Glucosamine - not recommended
Intraarticular steroids injections - increase joint damage, not that effective
Short term steroids helpful for hand OA only

  • Doxycycline can be disease modifying in OA
44
Q

Relapsing polychondritis

A
  • Polychondritis, also called relapsing polychondritis, is a rare disease in which cartilage in many areas of the body becomes inflamed
  • Clinical features include inflammation of the auricular, nasal, laryngotracheal, costal and articular cartilage and ocular inflammation
  • Can be associated with other CTD and myelodysplasia
45
Q

Cogan Syndrome

A
  • Rare chronic inflammatory disease of unknown aetiology that predominant affects the eye and inner ear
  • Interstitial keratitis (blood vessels grow into cornea) and recurrent Meniere like episodes of deafness
  • Mostly in young Caucasian adults
  • Can be associated with aortitis and vasculitis
46
Q

Major and minor diagnostic criteria for Marfan’s syndrome

A

Major Criteria

  • Enlarged aorta
  • Aortic dissection
  • Dislocation of the lens
  • Family history of the syndrome
  • At least 4 skeletal problems - flat feet, curve spine
  • Dural ectasia - enlargement of the lining that surrounds part of the spinal cord

Minor Criteria

  • Short sightedness (myopia)
  • Unexplained stretch marks
  • Loose joints

Rheumatology (9 decks)

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