MSK Flashcards
Define giant cell arteritis
Granulomatous inflammation of large arteries, particularly branches of the external carotid artery, most commonly the temporal artery.
One of the aorta + medium to large artery vasculitides
Explain the aetiology / risk factors of giant cell arteritis
Unknown.
Genetic: Associated with HLA-DR4 and HLA-DRB1
Viral infection: parvovirus b19
Both the humoral and cellular immune systems have been implicated in the pathogenesis of GCA.
Pathphysiology:
- Inflammation (dendritic cells recruit monocytes, which differnetiate the macrophages and giant cells)
- Local vascular damage (macrophages produce MMPs)
- Concentric intimal hyperplasia (macrophages and giant cell produce PDGF and VEGF which stimulate intimal proliferation leading to reduced blood flow and ischaemia)
Association with polymyalgia rheumatica (PMR): 40–50% of patients with giant cell arteritis also have PMR.
Summarise the epidemiology of giant cell arteritis
Peak onset 65-70 y/o. Female: male= 2-4:1. Norther european women
Recognise the presenting symptoms of giant cell arteritis
Subacute, over a few weeks
Constitutional symptoms
Fever, weight loss, night sweats
Symptoms of anemia: fatigue and malaise
Headache: scalp and temporal tenderness (pain on combing hair. Jaw and tongue claudication (when eating!).
Visual disturbances : Blurred vision, sudden blindness in one eye (amaurosis fugax=painless temporary loss of vision in one or both eyes and scintillating scotoma ).
Systemic features : Malaise, low-grade fever, lethargy, weight loss, depression.
Symptoms of polymyalgia rhuematica (PMR): Early morning pain and stiffness of the muscles of the shoulder and pelvic girdle (40– 60% of cases are associated with PMR).
Recognise the signs of giant cell arteritis on physical examination
Swelling and erythema overlying the temporal artery.
Scalp and temporal tenderness.
Thickened non-pulsatile temporal artery.
Reduced Visual acuity.
Identify appropriate investigations for giant cell arteritis and interpret the results
ACR criteria (3 of 5 required):
- Age AT ONSET >50
- Headaches
- Abnormalities of temporal arteyr
- Elevated ESR (>50mm/h)
- Histopathaological abnormalities of temporal artery
Blood : raised ESR, FBC (normocytic anaemia of chronic disease).
Temporal artery biopsy : Within 48h of starting corticosteroids. Note that a negative biopsy does not exclude the diagnosis, because skip lesions occur.
Generate a management plan for giant cell arteritis
High dose oral prednisolone (40-60mg/day) to prevent VISUAL LOSS. Begin treatment as soon as temporal arteritis is suspected. Do not wait for a biopsy.
Reduce pred dose gradally according to symptoms adn ESR. Can require for 1-2 years
Low dose aspirin (+PPIs) to prevent ischaemic complications e.g. reduce risk of visual loss, TIAs or stroke.
Osteoporosis prevention (adequate dietary calcium and vitamin D intake, bisphosphonates).
If GCA is complicated by visual loss: IV pulse methylprednisolone (1 g for 3 days) followed by oral prednisolone (60 mg/day, as above).
Annual CXR for up to 10 years to identify thoracic aortic aneurysms. If detected, monitor with CT every 6– 12 months.
Identify the possible complications of giant cell arteritis and its management
Permanent vision loss: ∼ 20–30% if giant cell arteritis is left untreated
Cerebral ischemia (e.g., transient ischemic attack and stroke): < 2% of cases
Aortic aneurysm and/or dissection: ∼ 10–20% of patients
Summarise the prognosis for patients with giant cell arteritis
In most cases the condition lasts for ~2 years before complete remission.
Define sarcoidosis
Multisystem granulomatous inflammatory disorder
an immunologic disorder that results in lots of small nodules forming throughout the body.
Explain the aetiology / risk factors of sarcoidosis
Unknown.
PATHOLOGY/PATHOGENESIS The unknown antigen is presented on the MHC Class II complex of dendritic cells to CD4 (Th1) lymphocytes, which accumulate and release cytokines (e.g. IL-1/IL-2).
This results in formation of non-caseating granulomas in a variety of organs.
RISK FACTORS:
- Environmental risk factors include a prior infection with Mycobacterium tuberculosis and Borrelia burgdorferi (which causes lyme disease), but to be specific, these pathogens are long gone when the autoimmune problem sets in.
- Genetic: African American/family member with sarcoidosis
Summarise the epidemiology of sarcoidosis
Uncommon. More common in 20– 40 year olds, Africans and females. The prevalence is variable worldwide. Prevalence in UK is 16 in 100 000 (highest in Irish women).
Recognise the presenting symptoms of sarcoidosis
Where does it most commonly involve?
Sarcoidosis can involve nearly every organ, but they most often involves hilar lymph nodes which are lymph nodes that are near the point where the bronchi meets the lung.
General: fever, malaise, weight loss, bilateral parotid swelling, lymphadenopathy, hepatosplenomegaly
Lungs: breathlessness, cough (usually unproductive) , chest discomfort. Fine inspiratory crepitations
MSK: Bone cysts (e.g. dactylitis in phalanges), polyarthralgia, myopathy
Eyes: keratoconjuctivitis sicca (dry eyes), uveitis, papilloedema
Skin : Lupus pernio (red– blue infiltrations of nose, cheek, ears, terminal phalanges), erythema nodosum, maculopapular eruptions.
Neurological : Lymphocytic meningitis, space-occupying lesions, pituitary infiltration, cerebellar ataxia, cranial nerve palsies (e.g. bilateral facial nerve palsy), peripheral neuropathy.
Heart : Arrhythmia, bundle branch block, percarditis, cardiomyopathy, congestive cardiac failure.
Recognise the signs of sarcoidosis on physical examination
General: fever, malaise, weight loss, bilateral parotid swelling, lymphadenopathy, hepatosplenomegaly
Lungs: breathlessness, cough (usually unproductive) , chest discomfort. Fine inspiratory crepitations
MSK: Bone cysts (e.g. dactylitis in phalanges), polyarthralgia, myopathy
Eyes: keratoconjuctivitis sicca (dry eyes), uveitis, papilloedema
Skin : Lupus pernio (red– blue infiltrations of nose, cheek, ears, terminal phalanges), erythema nodosum, maculopapular eruptions.
Neurological : Lymphocytic meningitis, space-occupying lesions, pituitary infiltration, cerebellar ataxia, cranial nerve palsies (e.g. bilateral facial nerve palsy), peripheral neuropathy.
Identify appropriate investigations for sarcoidosis and interpret the results
Why would you do a 24-hr urine collection for sarcoidosis?
Stage 0, 1, 2 and 3 on CXR?
What happens to CD4:CD8 ratio on broncheoalveiolar lavage
Blood: SERUM ACE (is a measure of granuloma burden in tissues, product of macrophages), Ca2+ (elevated)
ESR, FBC (WCC may be reduced because of lymphocyte sequestration in the lungs), immunoglobulins (polycloncal hyperglobulinaemia), LFT (raised alkaline phosphatase and GGT)
24hr urine collection for: hypercalcuria
CXR: Stage 0 : May be clear. Stage 1 : Bilateral hilar lymphadenopathy. Stage 2 : Stage 1 with pulmonary infiltration and paratracheal node enlargement. Stage 3 : Pulmonary infiltration and fibrosis.
High-resolution CT scan: For diffuse lung involvement.
67 Gallium scan: Shows areas of inflammation (classically parotids and around eyes).
Pulmonary function tests: # FEV 1 , FVC and gas transfer (showing restrictive picture).
Bronchoscopy and bronchoalveolar lavage: increased lymphocytes with increased CD4: CD8 ratio.
Transbronchial lung biopsy (or lymph node biopsy): Non-caseating granulomas composed of epithelioid cells (activated macrophages), multinucleate Langhans cells and mononuclear cells (lymphocytes).
What happens to WCC in sarcoidosis
WCC may be reduced because of lymphocyte sequestration in the lungs
What are the normal components of synovial fluid analysis
Colour
Leukocytes
%PMNs
Total protein
Glucose
Crystals
Culture
What would you expect to see in a gouty arthritis synovial fluid analysis
Colour- yellow
Leukocytes- raised
%PMNs: raised
Total protein: slightly raised
Glucose: reduced
Crystals: -vely birefringent needle-shaped crysals
Culture: negative
Interpret this synovial fluid analysis:
Color: Yellow/opaque Leukocytes: 100,000 mm3 %PMNs: 75 Total Protein: 4g/dL Glucose: 20g/dL Crystals: None Culture: Gram+ cocci in clusters
This is a typical synovial fluid analysis for septic arthritis or septic bursitis.
Where are the common sites of bursitis
Common sites of bursitis include trochanteric (as in the vignette above) subacromial, olecranon, prepatellar, and infrapatellar bursae.
Outline what happens to the bursa in bursitis
Trauma or repetitive use can irritate the bursa, leading to inflammation and proliferation of the mesothelial cells lining the sac.
Inflammation of the bursa results in the effusion of a clear fluid within the bursal sac.
With prolonged inflammation, the sac gets thickened and may cause erosion on the adjacent bone due to the pressure exerted by the sac.
What might radiographs of bursitis around the greater trochanter show
Radiographs may show some calcification arising from the apex of the greater trochanter.
What is the current vignette typical for
Gradual, dull, and nocturnal pain with poor response to salicylates. Radiograph shows a well-circumscribed, lytic lesion (> 2 cm) with a rim of reactive sclerosis.
Is this benign or malignant?
Osteoblastoma
Benign
This type of tumor is usually a solitary lesion and tends to affect the axial skeleton (m.c., posterior column of the cervical spine). Osteoblastoma is more common in males between 20 to 30 years. Patients present with gradual, dull, and nocturnal pain with poor response to salicylates. In the physical exam, findings may include decreased range of motion and tender and swollen affected area. Patients may also progress to develop a neurological deficit as a result of cord compression.
Differentiate osteoblastoma with an osteoid osteoma
Osteoid osteoma is basically same as osteoblastoma, but >1cm
Well defined bone tunour that is usually located on epiphysis of long bones.
Pt presents with limited range of motion.
Tumour doesn’t have reactive sclerotic rim.
Giant cell tumour (osteoclastoma)
Signs of osteosarcoma on imaging
ill-defined lesion, aggressive periosteal reaction, and cortical destruction
Give 3 extra-articular manifestations of rheumatoid arthritis
Subcut nodules, pulmonary fibrosis and episcleritis
Deformities typically shown in rheum arthritis?
Ulnar deviation of the fingers
Z shaped thumb
Swan neck and boutonniere deformity
Trigger finger
Radial deviation of the wrist
(NOTE THAT THE DIPs ARE SPARED)
Triad for reactive arthritis?
Extra articular features
Uveitis, arthritis and urethritis
(days or weeks after GI/urogenital infection)
Other extra-articular features of reactive arthritis include circinate balanitis and keratoderma blennorrhagicum (BROWN, commonly found on palms and soles)
Define carpal tunnel syndrome
(briefly, what makes up the carpal tunnel)
Mononeuropathy brought on by compression of median nerve in the carpal tunnel.
Flexor retinaculum superiorly, and carpal bones inferiorly
Explain the aetiology / risk factors of carpal tunnel syndrome
Idiopathic (most common)
or
Secondary to:
- Tenosynovitis: overuse, rheumatoid arthritis, other inflammatory rheumatic disease
- Infaltrive disease of the canal/increased soft tissue: Amyloidosis, Myxoedema, myeloma, acromegaly
- Bone involvement in wrist: osteoarthritis, fracture, tumour
- Fluid retention states: pregnancy, nephrotic syndrome
- Other: obesity, menopause, diabetes, end-stage renal disease, gout
Recognise the presenting symptoms of carpal tunnel syndrome
Tingling and pain in the hand and fingers (may be woken up at night)
Weakness and clumsiness or hand
Recognise the signs of carpal tunnel syndrome on physical examination
Sensory impairment to median nerve distribution (first 3.5 fingers)
Weakness and wasting of thenar eminence (abductor pollicis brevis and opponens)
Tinnels sign: tapping carpal tunnel triggers symptoms (think “tapping tinnel”)
Phalen’s test: maximal flexion of the wrist for 1 minute may cause symptoms (think “phalens flexing”
Signs of the underlying cause: hypothyroidism (myxoedema) or acromegaly
Identify appropriate investigations for carpal tunnel syndrome and interpret the results
Diagnostic test of choice:
EMG
USS and MRI (space occupying lesion)
Bloods:
TFTs, ESR.
Nerve conduction stidues not always necessary. Shows impaired median nerve conduction across the carpal tunnel in the context of normal conduction elsewhere
Management of carpal tunnel
Mild- moderate:
Nocturnal wrist splinting in the neutral position. If there is inadequate response: a single injection of methylprednisolone into the carpal tunnel.
Referral to an occupational therapist/carpal bone mobilization.
Moderate to severe CTS refractory to conservative measures: Surgical decompression
Define rheumatoid arthritis
A chronic autoimmune inflammatory condition characterised by symmetrical deforming polyarthritis and extra-articular manifestations
Affects synovial joints
Explain the aetiology / risk factors of rheumatoid arthritis
Gene assocaitions
What causes extra-articular symptoms
Autoimmune condition of unknown cause
HLA DR-1 and HLA DR-4 associations
Ass with Raynaud’s and Sjorgens
During flares, synovial and immune cells increase and granulations from in the synovial membrane, forming a pannus.
The pannus can damage cartilage and soft tissue and erode bone
Cytokines cause extra-articular symptoms
Summarise the epidemiology of rheumatoid arthritis
3x more likely in females.
Peak incidence 30-50 years
Recognise the presenting symptoms of rheumatoid arthritis
Gradual (occasionally rapid) onset.
Usually affects peripheral joints symmetrically (occasionally monoarticular involvement, e.g. knee).
Pain, swelling and loss of mobility at affected joints
-Fever, fatigue, loss of appetite (–> weight loss)
Morning stiffness that improves as the day goes on
Recognise the signs of rheumatoid arthritis on physical examination
Which joints affected. Which joint is late to be affected
SEE EXTRA-ARTICULAR MANIFESTATIONS BELOW
Articular manifestations:
HAND: MCPs and PIPs usually affected, DIPs SPARED (not much synovium there)*. These lead to reduced grip strength
FEET: Metatarsophalangeal joints affected. Causes people to bear less weight on their toes, and more on their heal. So when they walk they hyperextend their toes.
Elbows, shoulders, knees, ankles can be affected.
Hip can be affected leading to groin, thigh and lower back pain. This is usually a late joint to be affected.
- Ulnar deviation of the fingers at MCP joints (due to subluxation)
- Swann neck deformities and boutonnieres deformity
- Z thumb
- Radial deviation at the wrist
- Trigger finger
- Wasting of the small muscles of the hand, palmar erythema
Identify appropriate investigations for rheumatoid arthritis and interpret the results
What is shown on xray of joints? DENS
What is needed for diagnosis?
What exactly is rheumatoid factor?
Which is the most specific biomarker?
FBC: Hb (reduced), platelets (increased), mild high WCC
ESR&CRP
Autoantibodies: rheumatoid factor (monoclonal IgM against Fc portion of IgG) present in 70% of people with rheumatoid, and 5% of normal population
and anti-CCP, possible anti-nuclear antibodies too
* Anti-citrullinated peptide (anti-CCP) antibodies (C) levels are the most
specific investigation for rheumatoid arthritis.*
However, rheumatoid factor should be tested for, and then anti-CCP is subsequently sent if rheumatic factor is negative, or to infrom decision making about starting therapy
Joint aspiration (acutely) to exclude septic arthritis
Bilateral plain radiographs of hand, wrist and feet (to minor disease progression): DENS
- reduced bone Density
- bone Erosions
- Narrowing of joint space
- Soft tissue swelling
DIAGNOSIS:
- At least 6 weeks
- At least 3 joints
- Positive rheumatoid factor or anti-CCP
- Raised CRP or ESR.
There is also a classification for diagnosis which you need to score above 6 on.
What is the primary cause of mortality associated with rheumatoid arthritis
Cardiovascular disease. Vasculitis and atheromatous plaques (–> MI and strokes)
What is the primary cause of mortality associated with rheumatoid arthritis
Cardiovascular disease. Vasculitis and atheromatous plaques (–> MI and strokes)
What are the extra-articular features of rheumatoid
EXTRA-ARTICULAR
-Fever, fatigue, loss of appetite (–> weight loss)
- Vasculitis and atheromatous plaques (–> MI and strokes)
- Vasculitis of skin: nail fold infarct, digital gangrene, ulcers, purpuric rash
- Heart: pericarditis, pericardial rib, myocarditis, valvular regurg
- Rheumatoid nodules (collections of macrophages and lymphocytes that have a central area of necrosis) on elbows, palms, over extensor tendons
- Low serum iron (increased hepcidin production)
- Pulmonary fibrosis and pleural effusions
- Eyes: scleritis, epislceritis
- Neuro: peripheral neuropathy, carpal tunnel, spinal cord compression
What is felty’s syndrome
Combo of:
- Rheumatoid
- Splenomegaly
- Neutropenia
- Lower limb pigmentation
Define gout
Monoarticular inflammatory arthritis characterised by deposition of monosodium urate crystals in joints, soft tissues and kidneys
Explain the aetiology / risk factors of gout
Purines (from nucleic acids) are usually broken down to uric acid using an enzyme cause xanthine oxidase.
In gout, the plasma becomes saturated with uric acid molecules. These bind to sodium to form monosodium urate, particularly in areas with slow blood flow (joints and kidneys)
RISK FACTOR:
- HYPERURICAEMIA
- Obesity
- Diabetes
- Male
- HTN
- Dyslipidaemia
- Alcohol use
- Drugs
Causes of hyperuricaemia:
1) Impaired excretion from the kidneys
- idiopathic
- renal failure
- medication (CANT LEAP- ciclosporin, aspirin, nicotinic acid, thiazides, loop diuretics, ethambutol, alcohol, pyrizinamide)) - think TB meds!
2) Overproduction of purines
- increased consumption of purine rich foods (shellfish, anchovies and red meat)
- genetic predisposition
- chemo/radiation treatment
3) Rare causes:
- Von gierke disease
- Lesch-nyhan syndrome
Summarise the epidemiology of crystal arthropathy (gout, pseudogout)
Male to female 10:1.
More common in higher social classes
Recognise the presenting symptoms of crystal arthropathy (gout, pseudogout)
ACUTE:
Sudden excruciating monoarticular pain, usually the metatarsophalangeal joint of the great toe
- Crystals cause tissue damage, resulting in a self-limited acute inflammatory episode= GOUT ATTACK.
- A gout attack resolves spontaneously within 10 days
CHRONIC
Persistent low-grade fever, polyarticular pain with painful tophi (urate deposits), best seen on tendons and the pinna of the ear.
- Repeated gout attacks can lead to chronic gout
- This is a type of arthritis in which there is joint tissue destruction and permanent joint deformity
- Permanent deposits of urate crystals= TOPHI
- These tophi can be surrounded by protein which do not therefore trigger inflammatory response, but sometimes the crystals can get out of the protein wall and trigger new gout attacks
Recognise the signs of crystal arthropathy (gout, pseudogout) on physical examination
What is podagra?
What are the 2 main complications
Acute gout: Sudden excruciating monoarticular pain in MTP of big toe, usually symmetrical.
Joints of ankle, knees, wrist and elbow can be involved.
Joint swollen, warm and red.
WHEN IT INVOLVES BIG TOE=PODAGRA. Can wake them up from sleep.
Chronic gout: low grade fever
COMPLICATIONS:
- Urate nephropathy
- Uric acid renal calculi
Identify appropriate investigations for crystal arthropathy (gout, pseudogout) and interpret the results
Synovial fluid analysis:
- Diagnosis depends on presence of monosodium urate crystals:
- Needle shaped, negatively birefrigent under polarised light.
(this means they are yellow under parallel light and blue under perpendicular light)
Gram stain and culture to exclude infection
Blood: FBC (raised WCC), U&E, increased urate (but may be normal in acute gout), raised ESR
AXR/KUB film: uric acid renal stones often radiolucent
Outline how chemo/radiation therapy can cause gout
Lots of tumour cells die due to these therapies, leading to tumour lysis syndrome
Dead cells release their contents into the bloodstream including uric acid (as well as phosphate and potassium)
How does von girke disease cause gout
Glucose 6 phosphatase deficiency means that pyruvate accumulates, preventing conversion of lactate –> pyruvate. Lactate and urate are excreted in the kidneys by the same transporter, so the excess lactate causes reduced urate excretion)
How does lesch-nyhan syndrome lead to gout
It causes deficiency of HGPRT, an enzyme used in the recycling of uric acid (to convert it back into purine)
What are the precipitants of a gout attack
Big meal with purine rich foods (meat, shellfish, anchovies)
Alcohol (as it competes with uric acid for excretion in the kidneys)
Infection
Define pseudogout
What crystals
Inflammatory condition causing pain in the
Calcium pyrophosphate
Explain the aetiology / risk factors of pseudogout.
What are the associations
Provoking factors
Increased pyrophosphate production by CARTILAGE, leading to LOCAL pyrophosphate supersaturation and deposition of calcium pyrophospahte crystals.
SHEDDING of crystals into joint cavity precipitates acute arthritis.
Accumulate in the joints and soft tisuse where they can cause tissue damage.
Idiopathic. Cause not well understood like in gout
Most causes of joint damage predispose to pseudogout (e.g. osteoarthritis, trauma)
Associated with:
- Trauma to joint
- Hyperparathyroidism
- Hypermagnesaemia
- Hypothyroidism
- Hypophosphataemia
- Haemochromatosis
Provoking factors:
-Intercurrent illness, surgery, local trauma
Summarise the epidemiology of pseudogout
Associated with those over >50
Female to male is 2:1.
Recognise the presenting symptoms of pseudogout
Affected joints?
ACUTE ATTACK:
-Painful, swollen, warm and red (indistinguishable from acute gout)
But CPPD tends to affect >1 joint. Knee, shoulder, elbow and wrist.
CHRONIC DEGENERATION:
Joint destruction and limited joint mobility. Pain stuffness, functional impairment
Uncommon: tendonitis, tenosynovitis, bursitis
Recognise the signs of pseudogout
Acute arthritis: Red, hot, tender, restricted range of movement, fever.
Chronic arthropathy (similar to osteoarthritis): Bonyswelling, crepitus, deformity, e.g. varus in knees, restriction of movement.
It is associated with chondrocalcinosis
Identify appropriate investigations for pseudogout
What can you see on x ray
Synovial fluid analysis
CPPD not as evident as monosodium urate:
-Weakly positively birefringent under polarised light
(blue under parallel light, yellow under perpendicular light)
-Rhomboid/rod shaped appearance
-Seen in or outside the cell
Imaging can help:
- CHONDROCALCINOSIS on x ray. This can be occur even if the disease is not clinically active at the time of presentation
- Loss of joint space, osteophytes, subchondral cysts, sclerosis
Blood: FBC (may show increased WCC in acute attack), ESR (may be raised), blood culture (exclude infective arthritis)
Screen for:
- Hyperparathyroidism
- Hypermagnesaemia
- Hypothyroidism
- Hypophosphataemia
- Haemochromatosis
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Reiter’s disease is also known as reactive arthritis. What is the clinical triad
A sterile synovitis
that typically follows an infection and involves the classical triad of
urethritis, arthritis and conjunctivitis.
Which MSK condition affects the DIP more than the PIP
Primary nodal osteoarthritis
Pain is characteristically worse at the end of the day.
In what age group does polymyalgia rheumatica
It’s rare under 60s
T/F paget’s disease does not affect serum Ca2+ levels
T
Ankylosing spondylitis is associated with which HLA
sacroiliac pain that is worst in the morning and better with activity. It also
causes
Schobers test in ank spond?
Schober’s test will reveal reduced spinal flexion.
What is the straight leg raise. When is it positive
The straight
leg raise is a clinical test that elicits pain in patients with lumbar disc herniation.
Osteoarthritis bony swellings?
(Heberden’s and Bouchard’s
nodes).
What % of patients with psoriasis develop arthritis
5%
What is the presentation of psoriasic arthritis
The pattern of arthritis is variable but most commonly affects the distal
interphalangeal joints and is asymmetrical.
Nail or skin changes of
psoriasis are usually present, but may develop after the arthritis.
It is also
important to note that psoriatic arthritis may present as a symmetrical
polyarthritis, resembling rheumatoid arthritis.
What is it called if the psoriatic arthritis turns into marked joint deformity
A small number of patients
with psoriatic arthritis may develop arthritis mutilans, where peri-articular
osteolysis and bone shortening occur, producing marked deformity.
Define sarcoidosis
Immunological disorder that results in lots of nodules forming over the body
Multisystem, granulomatous inflammaotry disorder
Explain the aetiology / risk factors of sarcoidosis
T cell proliferation without a pathogen
Forms nodules which contain granulomas. They have macrophages at the centre and T cells around the pathology, which are NON-CASEATING. The macrophages in the centre can merge together to form a Langerhans giant cell.
Trigger not known
Genetic:
- African American
- Family members with sarcoidosis
Environmental
-Prior infection with Mycobacterium tuberculosis and Borrelia burgdorferi
(these pathogens are long gone when the autoimmune system sets in)
Can involve nearly any organ.
Most commonly involves:
-Hilar lymph nodes, which can cause hilar lymphadenopathy
Can also form in:
- Skin (erythema nodosum, commonly on the front of the shins). Red, hard and painful
- Uveitis (inflammation in the pigmented layer in the eye)
- Heart (can lead to arrhythmia)
Summarise the epidemiology of sarcoidosis
African american females
Uncommon.
More common in 20-40 year olds
Recognise the presenting symptoms of sarcoidosis
GENERALISED:
-Fever, weight loss, fatigue, lymphadenopathy, bilateral parotid swelling, hepatosplenomegaly
SPECIFIC:
- LUNG: SoB/coughing (unproductive), fine inspiratory creps
- MSK: bone cysts (dactylitis in phalanges), polyarthralgia, myopathy
- EYES: Keratoconjunctivitis sicca (dry eyes), uveitis, papilloedema.
- SKIN: Erythema nodosum, maculopapular eruptions, Lupus pernio (red–blue infiltrations of nose, cheek, ears, terminal phalanges)
- NEURO: Lymphocytic meningitis, space-occupying lesions, pituitary infiltration, cerebellar ataxia, cranial nerve palsies (e.g.. bilateral facial nerve palsy) , peripheral neuropathy
- HEART: arrhythmias, BBB, pericarditis, cardiomyopathy, congestive cardiac failure
Recognise the signs of sarcoidosis on physical examination
..
Identify appropriate investigations for sarcoidosis and interpret the results
CHEST X-RAY or CT scan of chest. BILATERAL, HILAR LYMPHADENOPATHY
Blood test:
- Raised calcium (due to excess vit D produced by macrophages)
- Increased ACE (produced by T cells)
- Increased ESR
- WCC may be low due to lymphocyte sequestration in the lungs
- immunoglobulins (polyclonal hyperglobulinaemia),
- LFT (raised alkaline phosphatase and GGT).
Bronchoalveolar lavage:
-Increased T cells in the lung (increased CD4:CD8 ratio)
-Langerhans giant cell forms from fused marcrophages, and contain SCHAUMANN BODIES (calcium and protein deposits) and
ASTEROID BODIES
67 gallium scan: areas of inflammation around parotids and eyes
GOLD STANDARD: BIOPSY AND HISTOLOGY:
-Non-caseating granulomas with T cells peripherally and macrophages in the middle. Mutinucleate langerhans cell.
Outline chest x ray staging of sarcoidosis
Stage 0: may be clear
Stage 1: Bilateral hilar lymphadenopathy
Stage 2: Stage 1 with pulmonary infiltration
Stage 3: Pulmonary infiltration and fibrosis.
T/F rheum arthritis is associated with erythema nodosum
F.
It is associated with infection (strep infections, TB), inflammatory disorders (sarcoid, IBD), drugs (oral contraceptive pill).
See derm.
Not rheum arthritis though
Define Sjögren’s syndrome
Inflammation and destruction of exocrine glands (usually salivary and lacrimal).
Can be “secondary” to other autoimmune diseases
Sicca syndrome is aka primary sjorgens syndrome
Explain the aetiology / risk factors of Sjögren’s syndrome
What are the HLA associations
What conditions is is associated with
Gen: HLA-B8, DR3
Enrivon: Recent exocrine gland infection
Ass with:
- Rheumatoid arthritis,
- scleroderma,
- SLE,
- polymyositits and
- organ specific diseases like: PBC, autoimmune hepatitis, autoimmune thyroid disease and MG
Summarise the epidemiology of Sjögren’s syndrome
Male to female around 1:9!!!!
Onset between 15-65 years old
Recognise the presenting symptoms of Sjögren’s syndrome
Remember most commonly in middle aged women
General: fatigue, fever, weight loss, depression
Dry eyes (=keratoconjunctivitis sicca): Gritty, sore eyes, blurring of vision, redness
Dry mouth (=xerostomia): Dysphagia may result secondarily
Dry upper airways: Dry cough, recurrent sinusitis
Dry hair and skin (uncommon)
Dry vagina (uncommon): May cause dyspareunia
Reduced GI mucus secretion causing reflux eosophagitis, gastritis and constipation
Recognise the signs of Sjögren’s syndrome on physical examination
Parotid or salivary gland enlargement.
Dry eyes.
Dry mouth or tongue.
Signs of the associated conditions.
Identify appropriate investigations for Sjögren’s syndrome and interpret the results
What is the confirmatory test
BLOOD:
- Raised ESR
- Raised amylase if salivary glands involved
AUTOANTIBODIES:
-Rheumatoid factor, ANA, anti-ENA (which includes anti-SSA, aka anti-Ro. and also anti-SSB aka anti-La)
SCHIRMERS TEST:
- Filter paper strip under eyelid.
- Positive if <10mm of the strip is wet after 5 minutes
FLUORESCEIN/ROSE BENGAL STAINS:
-May show punctate or filamentary keratits (clumps of mucus on the corna)
SIALOMETRY
-Can be done to measure saliva flow
OTHERS:
- Reduced parotid salivary flow rate
- Reduced clearance on isotope scan
BIOPSY (=CONFIRMATORY TEST)
-Of salivary or labial glands
What would a confirmatory lip biopsy show in sjorgens syndrome
hich will show extensive lymphocytic infiltrate, especially CD4+ T- cells, plasma cells, and macrophages; and thickening of the inner duct wall.
What is the difference in the history between lambert eaton syndrome and myasthenia gravis.
MG is an autoimmune condition with antibodies against nicotinic acetycholine receptors at the neuromuscular junction
Lambert eaton syndrome is a paraneoplastic syndrome characterised by production of antibodies again calcium channels, and they are usually produced from small cell lung cancers.
Myasthenia gravis is characterised by fatigue that gets worse with activity – patients often complain about severe fatigue towards the end of
the day.
WHEREAS
Fatigue, in Lambert-Eaton syndrome, improves with activity.
Polymyalgia rheumatica causes what symptoms at the shoulder and pelvic joints
Polymyalgia
rheumatica is an inflammatory condition, which causes pain and stiffness (WITHOUT
weakness) of the shoulder and pelvic girdle that is typically worst in the morning.
What are the presentations of psoriatic arthritis
1) DIP joint disease
2) Psoriatic spondylopathy
3) Symmetrical polyarthritis
4) Assymetrical oligoarthritis and
5) ARTHRITIS MUTILANS (telescoping of the digits)
What is Felty’s syndrome
Triad of RA, splenomegaly and neutropaenia.
Most commonly in patients with RA.
Low neutrophil count causes infection
Which infection most commonly triggers reactive arthriits
Chlamydia trachomitis
What is reiter syndrome
Type of reactive arthritis, characterised by:
Nongonococcal urethritis
Asymmetric oligoarthritis
Conjunctivitis
What is the HLA association of reactive arthritis
HLA-B27
What is the most common organism causing reactive arthritis following diarroeah
Shigella
Waht is the most common organism causign reactive arthirtis + keratoderma blenorrhagicum
Chlamydia
Progressive hearing loss and arthritis?
Progressive
hearing loss
can occur in patients with Alports syndrome. Patients with Alports syndrome can present with
arthritis
, but other associated symptoms include
nephritis
and a family history is usually present.
What is dermatomyositis
Clinical features
Dermatomyositis (DM) is a systemic connective-tissue disorder related to polymyositis (PM) and is characterized by skin rash , erythroderma , periungual telangiectasias , "mechanic's hands" (rough, cracked skin), scalp psoriasiform changes, centripetal flagellate erythema , calcinosis cutis , symmetric proximal muscle weakness , pain, tenderness, temporary paralysis , and dysphagia , among others.
What are the investigation findings in dermatomyositis
The most appropriate first step for diagnosis is the study of symptomatology and CK blood measurements. Definitive diagnosis is through
muscle biopsy
, and skin biopsy and EMG are complementary
What is the cause of dermatomyositis
The cause is unknown, but it may result from an initial viral or bacterial infection and the mechanism is conjectured to be
complement-mediated
damage of microscopic vessels with
muscle atrophy
and lymphocytic inflammation secondary to tissue
ischemia
What is gottrons sign
Gottron's sign is an erythematous , scaly eruption occurring in symmetric fashion over the MCP and interphalangeal joints in dermatomyositis .
Describe the muscle weakness in polymoyositis and dermatomyositis
These conditions are characterized by symmetrical proximal
muscle weakness
and inflammation.
SLE diagnosis
4 of the following 11 must be present:
S-erositis
O-ral ulcer
A-rthritis (non-erosive)
P-hotosensitivity
B-lood disorders (haemolytic anaemia, leukopaenia, thrombocytopaenia)
R-enal disorders (proteinuria, red cell casts)
Anti-nuclear antibodies
I-mmunological disorders
N-eurological disease (psychosis and seizures)
M-alar rash
D-iscoid rash
Why is tensilon test rarely used
Causes bradycardia (anti-cholinesterase inhibitor
Extra-articular features of ank spond
Apical lung fibrosis Aortic regurgitation Achilles tendonitis Anterior uveitis Amyloidosis
5 As
Causes of erythema nodosum
Infection (strep, TB, salmonella, toxoplasmosis, histoplasmosis, yersinia, leprosy)
Inflammation (sarcoid, IBD (both), behcets)
Malignancy (N-H lymphoma, leukaemoa)
Drugs (oral contraceptive pill, sulphonamides, penicillin)
Which drugs are risk factors for gout
Chemo
Low dose NSAIDs
Ciclosporins
Thiazide
What are risk factors for septic arthritis
Prosthetic joints
Immunosuppression
Trauma to a joint
How can you differnetiate an articular from periarticular pain on joint examination
Articular conditions are more likely to present with a diff usely infl amed joint (red, hot, painful) and pain on passive as well as active motion.
Periarticular conditions tend to have a focal point of tenderness on palpation (in bursitis this would be over the bursa; in tendonitis, over the tendon) and pain is usually much worse on active movement than on passive movement.
Uveitis is commonly associated with joint pain caused by which arthropathies
HLA B-27 associated ones.
These are HLA class I related arthritides “seronegative arthritides”
Like ankylosing spondylitis, reactive arthritis, IBD related arthritis, bechcets disease (which is actually B51!) and psoriatic arthritis
T/F being systemically well and afebrile rules out septic arthriits
f
First line investigation in monoarticular arthropathy
Arthrocentesis of the joint
Is serum urate indicated in the acute setting if you suspect gout?
No.
Patients who develop gout have often had hyperuricaemia for years, although during acute gout their serum urate is often normal or low. For this reason it should not be ordered in the acute setting. Also note that asymptomatic hyperuricaemia is fairly common in the population and thus a fi nding of elevated urate is not very helpful in diagnosis.
What imaging might be useful if you have excluded intra-articular pathology in a joint
MRI
Magnetic resonance imaging (MRI) − is the imaging of choice for soft tissue injuries and other extra-articular pathology, e.g. osteomyelitis.
What is the second commonest joint affected by gout
Gout most commonly aff ects the big toe (podagra), but the knee is the second most common joint affected and thus presentation of monoarthropathy of the knee is not atypical
Disc herniation can lead to what pattern of pain
What are the other causes of this
It can lead to radiculopathy which is compression of a nerve root.
The most commonly affected nerve roots are L4-5 and L5-S1.
It results in sciatica, pain radiation from the back down to the leg.
OTHER CAUSES OF RADICULOPATHY:
- degenerative diseases of the spine (leading to neuroforaminal or spinal canal stenosis)
- fracture
- malignancy (most commonly metastatic)
- infection like extradural abscesses, osteomyelitis (most commonly TB, or herpes zoster)
What are the motor and sensory deficits associated with the following radiculopathy, and which intervertebral disc herniation causes that radiculopathy
1) L4
2) L5
3) S1
Herniated discs tend to compress the nerve root BELOW them.
L3-4 herniation (rare)–> L4 RADICULOPATHY:
-Weakness in knee extension and reduced patellar reflex.
-Sensory: Extending from distal lateral thigh area over patella up to inner side of lower leg
L4-5 herniation–> L5 radiculopathy.
- Weakened hip abduction and dorsiflexion
- Difficulty HEEL walking
- Sensory: Dorsolateral thigh, lateral side of the knee, anterolateral lower leg, dorsum of foot, big toe
L5-S1 herniation (MOST COMMON) –> S1 radiculopathy
- Weakened plantar flexion
- Difficulty TOE walking
- Sensory: lateral foot
What is the straight leg raise test
It is when person keeps leg straight and raises them one at a time.
If they get pain radiating down their leg, the sign is positive, suggesting lumbar disc herniation
MRI to confirm
Clinical features of radiculopathy
Remember it’s compressing a spinal nerve so motor and sensory effects.
SENSORY: paraesthesia and numbness. radicular pain
MOTOR: weakness.
Clinical features of radiculopathy
Remember it’s compressing a spinal nerve so motor and sensory effects.
SENSORY: paraesthesia and numbness. radicular pain
MOTOR: weakness.
Loss of deep tendon reflexes. See above.
Pain increases with pressure (coughing/sneezing) but reduces with changign position/short walks
What is spinal cord compression
occurs when the spinal cord is compressed by a lesion such as a tumor, fracture, or ruptured disk
Compare this to radiculopathy which is when the nerve root itself is compressed
What are the causes of spinal cord compression of acute vs insidious onset
Acute: vertebral fracture, acute disc herniation, hematoma
Insidious: abscess, primary tumor, metastasis (days to weeks); slow-growing primary tumors, degenerative spine changes, e.g., spondylosis (months to years)
Diagnosis of spinal cord compression
Diagnosis is by X-rays but preferably magnetic resonance imaging (MRI) of the whole spine.[1] The most common causes of cord compression are tumors, but abscesses and granulomas (e.g. in tuberculosis) are equally capable of producing the syndrome.
What is spinal stenosis
Spinal stenosis is an abnormal narrowing of the spinal canal or neural foramen that results in pressure on the spinal cord or nerve roots
Symptoms are typically gradual in onset and improve with bending forward
What is neurogenic claudciation
Neurogenic
claudication
is a frequent symptom of
lumbar
spinal stenosis
, and is typically exacerbated by
lumbar
extension
and relieved by
lumbar
flexion.
Walking downhill would place the spine into extension , with an increase in lumbar lordosis . In association with lumbar
spinal stenosis , extension would further compress the spinal nerves , resulting in an increase in symptoms.
Define ankylosing spondylitis
Which joints are affected
Seronegative inflammatory arthropathy affecting preferentially the axial skeleton and large proximal joints.
Inflammation starts at the entheses (sites of attachment of ligaments to vertebral bodies).
Cause of ank spond
Unknown, strong link with HLA-B27 (>90% HLA B27 +ve, copared to 8% of general population)
Inflammation starts at entheses. Changes START in lumbar and progress to thoracic and cervical region.
What bone changes occur in ank spond
Following inflammation of the entheses joints, there is reactive new bone formation (lumbar first –> cervical):
- Squaring of vertebral bodies
- Syndemophytes (vertical ossifications bridging the margins of adjacent vertebrae)
- Fusion of syndesmophtes and facet joints (ankylosis and spinal immobility)
- Calficiation of anterior and lateral spinal ligaments
Epidemiology of ank spond
Commojn. Earlier presentation in men. Men to women is 6:1 at 16 years old, and 2:1 at 30
History of ank spond
Low back and sacroiliac pain disturbing sleep (worse in morning, improves on activity, returns with rest)
Progressive loss of spinal movement.
ASYMMETRICAL PERIPHERAL ARTHRITIS.
Pleuritic chest pain (costovertebral joint involvement). Heel pain (plantar fasciitis)
Examination of ank spond
Reduced range of spinal movement (in particular hip rotation)
Reduced lateral spinal flexion and occiput-wall distance (with patient standing next to the wall)
Schober’s test will show less than 5cm change in distance on forward flexion.
Tenderness of SI joints.
later stage: cervical kyphosis
Investigation for ank spond
1st investigations: pelvic x ray.
The presence of radiographic sacroiliitis is a requirement for fulfilling the modified New York classification criteria for AS, which is the most specific criteria set for reaching a diagnosis
Radiographically apparent sacroiliitis may take many years to develop, and therefore a normal pelvic x-ray does not exclude the diagnosis
HLA-B27 is not diagnostic
MRI has been instrumental in allowing clinicians to diagnose AS early. Gadolinium enhancement not needed. You see bone marrow oedema on a T2-weighted sagittal short-tau inversion recovery (STIR) image
Define spondylosis
Degeneration of the vertebral column from any cause
It si a pars interarticularis vertebral defect, mostly in the lumbar area
Aetiology and risk factors for spondylosis
Age related wear and tear (spinal osteoarthritis)
Years of constant abnormal pressure on the vertebrae or discs caused by joint subluxation, sport induced stress, trauma, or poor posture
In response to the abnormal stress, new bone is created to compensate for the new weight.
Examination for spondylosis
WHat is Lhermitte sign
Cervical compression test, a variant of spurlings test.
Laterally flex patient’s head and place downward pressure on it. Neck or shoulder pain on the ipsilateral side (i.e. the side to which the head is flexed) indicates a positive result for this test. (may indicate spondylosis)
eeling of electrical shock with patient neck flexion
Reduced range of motion of the neck, the most frequent objective finding on physical examination
Investigation for spondylosis
MRI and CT scans are helpful for pain diagnosis but generally are not definitive and must be considered together with physical examinations and history.
What is amyloidosis
What are amyloidi fibrils
Heterogeneous group of diseases characterized by extracellular deposition of amyloid fibrils.
Amyloid fibrils are polymers comprising low-molecular-weight subunit proteins, predominantly antiparallel b-pleated sheet configuration.
They associate with glycosaminoglycans and serum amyloid P-component (SAP), and their deposition progressively disrupts the structure and function of normal tissue.
Types of amyloidosis?
AA (Serum amyloid A protein)
AL (Monocloncal immunoglobulin light chains)
ATTR (genetic variant transthyretin)
What are the causes of AA amyloid
Deposition of serum amyloid A protein
Chronic inflammatory diseases:
- Rheumatoid arthriits
- Seronegative arthritides
- Crohn’s
- Chronic infection (bronchiectasis, TB, osteomyelitis), malignancy (Hodgkin’s, renal cancer)
What is the cause of AL amyloid
Deposition of Monocloncal immunoglobulin light chains
Subtle monoclonal plasma cell dyscrasias, multiple myeloma, Waldenstroms macroglobulinaemia, B-cell lymphoma
What is the inheritance of ATTR
Autosomal dominant
Where can amyloid affect?
Can be systemic (generalised) or localised:
e.g. pancreatic islets of Langerhans (type 2 diabetes), cerebral cortex (Alzheimer’s disease), cerebral blood vessels (amyloid angiopathy) and in bones and joints (in long-term dialysis caused by b2-microglobulin).
What type of amyloid can patients get who have had long term haemodialysis
B-2 microglobulin
Hx of amyloid
Renal: Proteinuria, nephrotic syndrome, renal failure
Cardiac: Restrictive cardiomyopathy, heart failure, arrhythmia, angina (due to accumulation of amyloid in the coronary arteries).
GI: Macroglossia, hepatomegly, splenomegaly, gut dysmotility, malabsorption, bleeding
Neurological: Sensory and motor neuropathy, autonomic neuropathy (symptoms of bowel or bladder dysfunction, postural hypotension), carpal tunnel syndrome.
Skin: Waxy skin and easy bruising, purpura around eyes (characteristic of AL), plaques and nodules.
Joints: Painful asymmetrical large joints, “shoulder pad” sign (enlargement of the anterior shoulder).
Haem: Bleeding diathesis (factor X deficiency due to binding on amyloid fibrils primarily in the liver and spleen; and# synthesis of coagulation factors in patients with advanced liver disease).
Macroglossia is characteristic of which amyloid
AL
Purpura around eyes:
Characteristic of AL amyloid
What causes bleeding problems in amyloid
- Factor X deficiency due to binding on amyloid fibrils primarily in the liver and spleen; and
- Reduced synthesis of coagulation factors in patients with advanced liver disease
Investigation for amyloidosis
1st: serum immunofixation (presence of monoclonal protein in immunoglobulin light chain amyloidosis) or urine immunofixation (more sensitive)
IMMUNOGLOBULIN FREE LIGHT CHAIN ASSAY: abnormal kappa to lamda ratio
Bone marrow biopsy: clonal plasma cells
The diagnosis of amyloid requires tissue biopsy proof of deposits that stain positive for Congo red.[26] Apple-green birefringence is seen when Congo red stained material is viewed under polarised light.
Tissue can be taken from lip, skin, gingiva, subcutaneous fat, bone marrow, nerve, rectum, kidney, liver, or heart.
The deposits are always extracellular and appear amorphous.
What is SLE
Multi-system inflammatory autoimmune disorder.
How is SLE diagnosed
Systemic symptoms: General: Fever, fatigue, weight loss, lymphadenopathy, splenomegaly
4 out of 11 diagnostic criteria of the American College of Rheumatology provides 95% specificity and 85% sensitivity for SLE
Serositis (pleuritis, pleural effusions, pericarditis)
Oral ulcers, nasal. PAINLESS.
Arthritis >2 joints
Photosensitivity
Blood disorders. Haemolytic anaemia, thrombocytopaenia
Renal disease (urine casts, proteinuria) / raynaud’s
ANA
Immunological Abs (anti- dsDNA, anti-Smith, anti-Ro)
Neurological disorders (seizures, psychosis)
Malar rash
Discoid rash
Aetiology of SLE
Drugs causing a SLE type disorder
Unknown.
Tissue damage may be mediated by vascular immune complex deposition related to the auto-antibodies
HLA-DR3
HLA-DR2
Complement deficiencies (C1q, C2)
Exogenous factors (e.g. drugs such as hydralazine and procainamide can cause a reversible SLE-like disorder
SLE and proteinuria, SLE and red casts in urine
Proteinuria for the first one, lupus nephritis for second
Epidemiology of SLE
Female 10 times more likely
What is rowell syndrome
Rowell syndrome is a rare disease consisting of erythema multiforme-like lesions associated with lupus erythematosus.
What is Libman sacks endocarditis
non-infective mitral valve disease
Anti-histone antibodies with SLE?
Anti-histone: In drug-induced lupus
What are ANAs
IgG antibodies
Investigations for SLE
FBC, U&E, PTT may be prolonged (if antiphospholipid antibodies are present), raised ESR & normal CRP, anti-dsDNA, anti-Smith highly specific. ANA nearly always raised, but not specific to SLE.
REDUCED C3 complement
Renal biopsy if renal glomerulonephritis is suspected.
What is mortality with SLE usually due to
Mortality is usually a result of infection (e.g. streptococcal sepsis) or renal failure. Prognosis worse if onset with renal involvement during pregnancy.
What is scleroderma
Autoimmune condition, characterised by hard skin and other internal organ problems. Fibrosis and ischaemic tissue injury.
How is scleroderma classified.
Scleroderma can be LOCALISED, or SYSTEMIC.
Systemic scleroderma is also known as systemic sclerosis.
Systemic sclerosis is further classified into diffuse cutaneous systemic sclerosis, and limited cutaneous systemic sclerosis
What is the history of localised scleroderma
So this is not systemic sclerosis, it’s a localised scleroderma
It ONLY involves the skin, causing either:
-Morphoea localised scleroderma (discoloured oval patches on the skin, anywhere on body, itchy)
-Linear localised scleroderma (thickened skin occurs in lines along the face, scalp, legs or arms). It can improve after a few years but can cause permanent growth problems like shortened limbs
What is the history of limited cutaneous systemic sclerosis
This used to be known as CREST syndrome.
Calcinosis Rayndaud's phenomenon Esophageal dysmotility (-->dysphagia) Sclerodactyly Telangiectasia
And skin manifestations.
The disease only affects the hands, lower arms, lower legs and feet and face (little bit like glove and stocking, but wouldn’t be called that)
Can eventually affect lungs and digestive system
Which antibody is associated with limited cutaneous systemic sclerosis
ANA positive.
ANA anti-centromere antibodies are present (these are only occasionally present in diffuse systemic sclerosis)
What is the most common initial presentation of limited cutaneous systemic sclerosis
What is a complication of it
Usually present with just raynauds.
People with limited scleroderma have a low frequency of lung, heart, and renal disease. But up to 30% of this subgroup may have the serious complication of pulmonary arterial hypertension.
What is diffuse cutaneous systemic sclerosis history
More likely to affect internal organs, and skin changes can affect whole body.
Symptoms come on suddenly and get worse quickly over the first few years, but then normally settles and skin gradually improves.
They also get CREST, but this time with the skin changes there is truncal involvement.
What is the presentation of diffuse cutaneous systemic sclerosis history
Sympyoms generally much more severe, raynaud’s may precede or occur with skin symptoms
Which antibodies are found in diffuse cutaneous systemic sclerosis
What conditions are they associated with within diffuse cutaneous systemic sclerosis
ANA positive.
Serum anti-topoisomerase (anti SCL-70) is SPECIFIC to diffuse scleroderma. It is associated with lung fibrosis.
Anti-RNA polymerase III is associated with renal crisis!
T/F microstomia can occur only in diffuse cutaneous systemic sclerosis
F. It can occur in limited too, as limited cutaneous systemic sclerosis can affect the face
Which lung changes are associated with scleroderma
Pulmonary fibrosis –> pulmonary HTN.
Remember that obviously diffuse cutaneous systemic sclerosis will experience severe organ involvement sooner and more frequently, but this pulomonary HTN is the key complication of limited cutaneous systemic sclerosis
What are the renal complications of scleroderma
Hypertensive renal crisis, chronic renal failure.
Remember that these are going to be much more present in diffuse
Which headaches are associated with scleroderma
Trigeminal neuralgia (remember this is also assocaited with MS)
How does the skin manifestation start in scleroderman
They begin in the fingers and move up the arm.
Initially the hands and fingers become swollen and doughy. Then, after fibrosis occurs years later, tight, shiny, smooth and stiff.
When the fingers are affected it’s called sclerodactyly and it can lead to ulceration, and lead to the fingers turning inwards to form a claw
What can happen to the mouth and nose in sclerodemra
Mouth –> microstomia
Nose –> beaked
What happens in rayndauds
When fingers exposed to cold, they go white, then blue, then red.
After a chest x-ray where you suspect pulmonary fibrosis, what’s needed to confirm
High-resolution CT thorax is needed as a next to step to confirm pulmonary fibrosis
What would lung function tests show in restrictive pattern of lung disease
Lung function tests show a restrictive pattern and reduced gas transfer in pulmonary fibrosis.
What investigations would be used to evaluate dysphagia in scleroderma
Routine barium swallow and manometry are used to assess the dysmotility.
Commonest cause of death in scleroderma
ardio pulmonary involvement is the commonest cause.
Renal can also cause
T/F sjorgens is a recognised association with scleroderma
T
Causes of acute monoarthritis
Infectious (septic arthritis)
Inflammatory
Crystal arthropathy
Reactive arthritis
Rheumatoid
Uncommon-other seronegative spondyloarhtopathy
T/F you should perform joint aspiration before treatment with antibiotics
T
f septic arthritis is suspected then a joint aspiration should be performed swifty and before treatment with antibiotics.
Most common cause of septic arthritis in young adukts
In young adults, Neisseria gonorrhoeae is the commonest organism. Neisseria is the only common gram negative coccus. His symptoms of dysuria were secondary to gonorrhoea, and this was confirmed by culture of a urethral swab. Gonococcal arthritis is part of a disseminated gonococcal infection (DGI).
Other commonest cuases of septic arthritis
Organisms that cause bacteraemia are those most responsible for septic arthritis, and therefore the most common organisms are Staphylococcus aureus, non-group A streptococcus and Gram negative organisms.
How can disseminated gonococcal infection present
DGI can present with an arthritis-dermatitis syndrome involving joints and skin in 60% (classic triad of dermatitis, tenosynovitis and migratory polyarthritis [e.g. painful elbow])
or a localised septic arthritis in 40%.
Marfan results from a mutation in which gene
Fibrillin
How can erythema nodusum be treated
It is benign and self limiting, can be treated with NSAIDs for symptoms
What is the most common cause of chondrocalcinosis
Osteoarthritis. Note, it can also be seen in pseudogout
Risk factors for osteoarthritis
Obesity, family history, trauma
Alkaptonuria, acromegaly
T/F pharmacologic treatment is first line for osteoarthritis
F.
Education, social support, physiotherapy, occ therapy and weight loss
Outline pharmacologic treatment for osteoarthritis
Paracetamol, especially regularly, should be the first line oral treatment for osteoarthritis (NSAIDs not superior)
Topical NSAIDs are widely prescribed and are effective and safe but a small amount of the topical preparation will be systemically absorbed
Contraindications for COX-1 and COX-2
COX-1 is cytoprotective to GI tract so COX-1 inhibitor contraindicated in peptic ulcers
COX-2 is cardioprotective, so COX-2 inhibitors are currently contra-indicated in ischaemic heart disease, cerebrovascular disease, and peripheral vascular disease.
What effect can ank spond have on the curvature of the spine
n axial spondyloarthropathy causes exaggerated thoracic kyphosis and reduced lumbar lordosis
T/F atlant-axial subluxation is seen in ank spond
F!!!!!! This is seen in rheumatoid arthritis
T/F sjorgens is seen in ank spond
F!!!! It’s seen with rheumatoid, SLE, scleroderma.
Which conditions is ank spond associated with
is a seronegative spondyloarthritis and as such is associated with anterior uveitis, mucosal and skin lesions, inflammatory bowel disease, psoriasis, and myocardial involvement including aoric regurgitation and cardiac conduction defects.
Compare the areas of lung affected in ank spond with rheumatoid
Apical pulmonary fibrosis can be seen in an axial spndyloarthropathy but lower zone fibrosis is seen in rheumatoid arthritis.
Inflammatory myopathies include which conditions
Polymyositis and
dermatomyositis
Cause of the inflammatory myopathies.
What are main risk factots for polymyositis and dermatomyositis
Unknown. Proposed autoimmune.
Polymyositis may be associated with autoimmune connective tissue diseases (e.g. scleroderma).
Dermatomyositis may be associated with bronchial, stomach, testicular, breast and ovarian malignancy,
HLA assocation of dermatomyositis
HLA linkage to DRW52.
Autoantibodies with dermatomyositis
s anti-Jo-1, anti-Scl, anti-Mi2,
History of polymyositis
Who does it affect
Typically affects adults
Affects proximal large muscle groups bilaterally, like shoulders and hips. Spares small muscle groups like hands.
Difficulty raising objects above head, rising from chair, climbing stairs
Worsens gradually over severeal months and there can be muscle atrophy
Myalgia and arthralgia may also occur
Hisotry of dermatomyositis
Muscle manifestations same as polymyositis (progressive weakness of proximal, large muscle groups bilaterally)
But mainly affects children.
Skin manifestations include:
1) Heliotrope/lilac rash on upper eyelids + periorbital oedema. Rash can also appear on chest, neck or thighs
2) Grottens papules (red flat, scaly papules located on bony prominences e.g. hands or knees). Gottren’s sign is when these are on the metaphalangeal joints of the interphalangeal joints of the hand
Examination of polymoyositis and dermatomyositis
Proximal muscle weakness and atrophy affecting both upper and lower limbs.
Antibodies associated iwth polymyositis
Anti-Jo12 and anti-SRP
Antibodies associated iwth dermatomysotis
Anti-Mi2
Blood results for the inflammatory myopathies (poly and dermato)
Increased CK, lactate dehydrogenase, aldolase, AST and ALT
Anaemia of chronic disease on blood count
How to differentiate polymyositis from polymyalgia rheumatica
With polymyositis there is progressive weakness.
In polymyalgia rheumatica there is stiffness but no weakness.
Note that these both affect shoulder and hip
Investigations for inflammaotry myopathies
Defiintiive diagnosis?
Careful evaluation for underlying malignancy
Muscle biopsy: Required for definitive diagnosis
Blood: raised CK (95%), ESR, autoantibody titres
EMG: Increased insertional activity, increased spontaneous fibrillations bnormallow-amplitude short duration polyphasic motor potentials and bizarre high-frequency discharges indicative of myopathy.
Popping sound on external rotation of the knee
A medial meniscus tear is characterized by a "popping sound " on external rotation of the knee (positive McMurray test ).
What is fibromyalgia
Fibromyalgia (FM) is a neurosensory disorder characterized by chronic musculocutaneous pain.
T/F fibromyalgia is an inflammatory condition
F.
notably, there is no identifiable inflammation that causes the musculocutaneous symptoms
Common symptoms of fibromyalgia
Chronic, widespread pain, primarily at points where muscles and tendons attach to bone (tender points)
Fibro fog: E.g., poor memory, difficulty concentrating, and lack of clarity of thought
Headache, fatigue, morning stiffness, unrefreshing sleep, parasthaesthias
Further symptoms of autonomic dysfunction: digestive problems, weight fluctuation, palpitations, sexual dysfunction, night sweats
Risk factors (associations) of fibromyalgia
Functional somatic syndromes (e.g., chronic fatigue syndrome , irritable bowel syndrome, tension or migraine headaches, chronic pelvic and bladder syndromes)
Psychiatric disorders (depression, generalized anxiety disorder)
Sleep disorders (e.g., sleep movement disorders such as restless leg syndrome)
Inflammatory rheumatic diseases (e.g., systemic lupus erythematosus, rheumatoid arthritis)
Diagnosis of fibromyalgia
Clinical diagnosis.
Symptoms at least 3 months
Tender points
Pain affected areas in all 4 quadrants of the body
Lab values and findings are normal
What is polymyalgia rheumatica
a common inflammatory rheumatic disease that mainly affects patients above the age of 50 years and occurs twice as often in women than in men
Most common inflammatory rheumatic disease in the elderly (second most common overall)
Aetiology of polymyalgia rheum
Unknown
HLA-DR4?
10-20% with polymyalgia rheumatica also have giant cell arteritis
Hx/ examination of polymyalgia rheum
Systemic symptoms: "B symptoms": fever, weight loss, night sweats Fatigue and malaise Depressed mood Anaemia symptoms
MSK: Shoulder and pelvic girdle, neck Worse at night Morning stiffness (> 45 min) Subjective weakness (NOT ACTUALLY WEAK)
10–20% of patients with polymyalgia rheumatica also develop typical symptoms of giant cell arteritis
Examination of polymyalgia rheum
difficulty rising from seated or prone positions, varying degrees of muscle tenderness, shoulder/hip bursitis, and/or oligoarthritis.
Investigations for polymyalgia rheum
MAIN ONE: Raised ESR (>50mm/h)
Raised CRP, leukocytosis, nomochromic naaemia
NORMAL: CK, rheumatoid factors, no autoantibodies
Bursitis on USS of affected joints
Management of polymyalgia rheum
Low-dose of oral glucocorticoids (alternative: IM glucocorticoids)
If symptoms improve (usually within 2–4 weeks): slowly taper and eventually stop glucocorticoids
You would also need to give calcium + vitamin D + bisphosphonate to protect the bones during the steroid use
The duration of treatment is typically at least 1 year, and it is often longer, depending upon the patient’s response.
No improvement after 2 weeks or relapse: increase dose
Complications of polymyalgia rheum
Of condition:
Chronic relapsing condition, GCA
Of steroid therapy:
increased infections, osteoporosis, T2DM
How to differentiate polymyalgia rheumatica from polymyositis/dermomyositis
Polymyositis and dermatomyositis have raised serum creatine kinase (normal in PMR)
How to differentiate fibromylagia from PMR
Fibromyalgia has normal laboratory values (no raised ESR, normal everything)
