Rheumatology Flashcards
Test to distinguish gout form pseudogout
polarised red light of joint aspirate
Test result for gout on joint aspirate
monosodium urate crystals are negatively birefringent in polarised light– they will appear a needle shaped crystals.
Test results for pseudo gout on joint aspirate
Calcium pyrophosphate crystals are positively birefringent in polarised light– they will appear as rhomboid shapes
Drugs which increase risk of gout
Thiazide diuretics
Chronic symptoms or complications of gout
Tophi - urate deposits in skin esp pinna of ear. White lesions, feel chalky, proportional to severity of disease.
Nephrolithiasis.
Secondary osteoarthritis
Treatment of gout
Acute: NSAID, colchicine, prednisolone if renal impairment. Rest, elevate joint, ice packs.
Chronic: Allopurinol of more than 1 attack in a year, evidence of tophi or nephroliathsis. Also can low dose aspirin and lifestyle advice to change diet.
Pharmacology for allopurinol and monitoring.
Inhibits the enzyme xanthene oxidase.
Monitor serum urate level every 3 weeks to check effectiveness. Target for uric acid < 300
Check kidney functions.
Titrate slow and low. Do not start immediately after acute attack as can precipitate flare-up. Wait 3 weeks.
X-ray of gout
‘punched-out’ periarticular erosions.
Flecked calcifications.
Normal joint space.
Soft tissue swelling.
Most common area for gout and pseudogout
Gout = first metatarsophalangeal joint Pseudogout = knee
X-ray for pseudogout
Cartilage calcification/Chondrocalcinosis - white horizontal lines in cartilage.
x-ray for OA
Osteophytes from new born formation.
Joint space narrowing.
Bone cysts
Subchondral sclerosis.
x-ray for RA
Soft tissue swelling.
Loss of joint space.
Joint deformity and erosions.
Juxta-articular osteopenia.
Use of biologics in RA
If RA does not respond to 2 DMARDs, DAS28 >5.1
DAS28
Disease activity score in rheumatoid arthritis of 28 joints.
One criteria for starting anti-TNF is DAS28 >5.1.
3 examples of TNF alpha inhibitors
Infliximab, etanercept, adalimumab
Contraindications for TNF alpha inhibitors
pregnancy, breast feeding, severe HF, haematological malignancy, active infection.
Common side effects of TNF alpha inhibitors
Worsening HF, reactivation of TB, fever, injection site swelling.
Risk factors for septic arthritis
prosthetic joint, IVDU, immunosuppressant drugs e.g. chemo, steroids, immunocompromised e.g. HIV/AIDS, DM, RA, OA, unprotected sex.
Common organism for septic arthritis
S.aureus.
Risk factors for gout
High purine diet e.g. red meat, beer, seafood. CKD HTN Tumour lysis syndrome. Diuretics.
Triggers for gout
Infection, trauma/injury, dehydration, alcohol binge, surgery.
Blood tests in pseudogout.
High Ca Low Mg Low phosphate High iron Low parathyroid.
Gene associated with seronegative arthropathies
HLA B27
Diseases with a positive rheumatoid factor result
Sjogren's syndrome Felty's syndrome Rheumatoid arthritis Mixed connective tissue disease SLE in <40% Systemic sclerosis in 30%
Diseases with a positive Anti-CCP
RA
Diseases with a positive ANA
SLE
Autoimmune hepatitis
Sjogren’s syndrome
Systemic sclerosis.
Name 2 large, medium and small vessel vasculitis’
Large = giant cell arteritis / polymyalgia rheumatica, Takyasu's arteritis. Medium = Polyarteritis nodosa, Kawasaki's Small = Churg-Strauss, Granulomatosis with polyangiitis, Henoch-Schonlein purpura.
Common demographic of GCA patient
Over 55yr old female with polymyalgia rheumatic/symptoms of PMR.
Complication of GCA
Aortic aneurysms
Blindness
S+S of GCA
Symptoms:
Recent onset headache, scalp tenderness (e.g. on combing), jaw claudication, transient diplopia, SOB.
Systemic symptoms = malaise, myalgia, fever.
Features of polymyalgia rheumatica (ache, joint stiffness in morning)
O/E:
Temporal artery tenderness, nodularity.
Unequal temporal artery pulse.
2 ways of visual loss in GCA
Amorousis fugax
Anterior ischaemic optic neuropathy
Investigations of GCA
Raised ESR. If >50mm/hr and tenderness on palpation do a biopsy.
Temporal artery biopsy. Will show granulomatous inflammation, multinucleate giant cells and intimal hypertrophy.
Also CRP (high), FBC (high plts), high ALT and ALP.
1 single management for GCA
Prednisolone + aspirin + osteoporosis prevention.
Consider immunosuppressant if resistant e.g. methotrexate.
Demographic of Takyasu’s arteritis patient
Japanese female less than 50yrs old
Pathophysiology of Takyasu’s arteritis
Chronic progressive granulomatous inflammation leading to stenosis, thrombosis, occlusion, dilation and aneurysms.
Presentation of Takyasu’s arteritis
- Systemic stage of symptoms such as fever, fatigue, myalgia, malaise.
- Occlusive stage with symptoms dependent on area of ischaemia:
Limb claudication, chest pain, HTN (renal), TIA, Abdo pain.
O/E: Unilateral absent radial, brachial and carotid pulse. Bruits Unequal BP (>10mmHg) Aortic regurgitate murmur
1 single investigation of Takayasu’s (above all others)
CT angiography to show narrowing + occlusion.
Also raised CRP, ESR
Management of Takyasu’s
Steroid (e.g. pred) + aspirin + bone protection.
Long term can consider TNF-alpha inhibitor or methotrexate if resistant disease.
Disease associated with Polyarteritis nodosa
Hepatits B (hence incidence decreasing with vaccine)
Pathology and symptoms in Polyarteritis nodosa
- Necrotising arteritis of medium/small vessels, no vasculitis of arterioles, capillaries or venules and ANCA -ve. Most spare lungs.
- Leads to aneurysms, thrombi and infarction of MEDIUM VESSELS.
- Systemic features such as fever, weight loss, headache and myalgia. NO pulmonary involvement.
- High diastolic blood pressure
- Skin - purpura, ‘punched out’ necrotic ulcers
- CNS - Mononeuritis multiplex (painful, asymmetrical sensory and motor neuropathy), paraesthesia.
- GI - postprandial abdo pain.
- S+S of hepatitis B.
Investigations and results for PAN
High WCC, low Hb, high platelets
High ESR and CRP
Test for ANCA (should be -ve)
∆ by either
- Angiography = Microaneurysms and focal constriction - rosary sign.
- Biopsy of vessel = leukocyte infiltration and focal segmental transmural necrotising inflammation.
Management of PAN
Pred and DMARD e.g. cyclophosphamide, treat any Hep B
Kids can be given IVIG and aspirin.
Microscopic polyangiitis
Rapid progressive necrotising vasculitis. Glomerulonephritis and pulmonary haemorrhage.
p-ANCA positive.
Give them prednisolone and cyclophosphamide if I can ever remember this shitty condition.
Got problems with my throat, breathing and urine….? haemoptyisis and haematuria
Granulomatosis with Polyangiitis.
Triad of pathology in granulomatosis with polyangiitis
ENT
LUNG
KIDNEY
Is granulomatosis with polyangiitis ANCA pos or neg
POSITIVE
Presentation of granulomatosis with polyangiitis and Mx
ENT = sinus pain, saddle nose deformity, nasal septum perforation, stridor. Lung = SOB, cough, haemoptysis, rhonchi. Kidney = HTN, oedema, glomerulonephritis. Ocular = red, pain, bilateral periorbital oedema, diplopia. Cutaneous = palpable purpura and petechiae. MSK = arthralgia, joint swelling CNS = numb, weakness.
Mx = corticosteroids (e.g. methylprednisolone + prednisolone) and cyclophosphamide.
Difference between Osteopenia and Osteoporosis
Both are decrease in bone mineral density, however, osteopenia is not as severe.
Osteopenia DEXA T score = -1 to -2.5
Osteoporosis DEXA T score = less than -2.5.
Pathophysiology of decreased BMD (osteopenia and osteoporosis)
- Decreased bone mass and abnormal bone architecture causes low bone strength and increase in the bone’s fragility (increased risk of fractures).
- Increased bone resorption by osteoclasts and less dynamic bone synthesis by osteoblasts.
Where do osteoporotic fractures occur
Vertebral crush #
Distal radius wrist #
Proximal femur hip #
Pelvic #
RFx for osteoporosis
Steroids / Cushing’s
Hyperparathyroidism, hyperthyroidism, hypocalcaemia
Alcohol and tabacco
Thin (BMI <19)
Testerosterone low e.g in anti-androgens for prostate cancer.
Early menopause- FEMALE!!
Renal disease
Erosive inflammatory diseases e.g. metastasis, myeloma.
Dietary (malnutrition)
CFx of osteoporosis
Normal - present with fracture.
Back pain, kyphosis, impaired gait.
Ix low bone mineral density
DEXA scan!
Biomarkers of bone turnover e.g. P1NP.
Bloods = 25-hydroxy vitamin D, total and corrected calcium, TFT, LFT (ALP), PTH, phosphate.
CALCULATE FRAX SCORE!!
Different results of a DEXA scan
T score = difference between the pt’s BMD and the mean BMD value for young adults. Osteoporosis < -2.5
Z score = number of standard deviation above/belows age-matched BMD. Secondary osteoporosis < -1.5
Management of low bone mineral density
- ASSESS RISK WITH FRAX SCORE
- Lifestyle advice - regular exercise e.g. walking, balanced diet, quit smoking, alcohol consumption within recommended limits, fall prevention, signpost to support and information.
- Bisphosphonate - to be taken with TAP water, remain upright for 30mins after ingestion e.g. alendronic acid. Take for at least 5yrs.
- Calcium and vitamin D supplementation e.g. Calciferol.
- Denosumab.
- Teriparatide if severe.
Name some medications which can increase risk of osteoporosis
SSRI
PPI
Anticonvulsants e.g. Carbamazepine
Steroids
Good drug for postmenopausal women with low BMD
Denosumab = RANKL inhibitor, inhibits osteoclast formation and function.
Normal T score on DEXA scan
greater or equal to -1.
Boney profile blood test
Calcium, phosphate, ALP and parathyroid hormone.
SE of bisphosphonates
gastritis oesophagitis oesophageal ulcers dizziness and vertigo osteonecrosis of the jaw joint swelling
Pathophysiology of osteomalacia and difference between it and Ricket’s
Incomplete mineralisation of the bone matrix in adulthood causes softening of bone (growth plates have closed).
Rickets = poor mineralisation of epiphyseal growth plate cartilage in children.
(same process for each but different areas affected).
Causes and risk factors for osteomalacia
Vitamin D deficiency. RFx for which are housebound, chronic renal failure, anti-convulsants, malabsorption (Coeliac), anticonvulsants e.g. carbamazepine.
Renal disease + osteomalacia
Renal osteodystrophy
CFx of osteomalacia
S+S of vitamin D deficiency! Diffuse bone pain and bone tenderness esp back and hips. Fatigue and depression. Proximal muscle weakness Muscle fasiculations Severe - waddling gait.
S+S of Rickets
Bone pain
knock-knees (valgus) or leg bowing (vagus)
Growth retardation
Muscle weakness
Carpopedal spasm
In first months of life: softening of skull = craniotabes, frontal bossing and rachitic rosary of ribs.
Investigating osteomalacia / vit D deficiency
Serum total and adjusted calcium Serum 25-hydroxyvitamin D Serum phosphate Serum urea and creatinine PTH LFT - ALP. DEXA scan or iliac crest biopsy.
Mx of osteomalacia / vit D deficiency
- Adult with low Vit D = Calcium + vitamin D supplement e.g. Colecalciferol.
- If severe hypocalcaemia = admit for IV calcium gluconate.
- Child with rickets = calcium supplements AND vitamin D supplement. If severe may need to admit.
What is colecalciferol
Vitamin D3
How to ∆ rickets
BIOCHEM:
High ALP, low 25-hydroxyvitamin D.
X RAY: Long bone cupping Splaying Fraying of metaphysical area Pseudofractures = Looser's zones as unmineralised bone collects in area.
Paget’s disease of the bone pathophysiology
Increased bone turnover in localised areas. Increased bone remodelling. New bone formed by osteoblasts is disorganised, sclerotic and weaker (liable to fracture).
Most common pelvis, skull, femur or tibia.
CFx, Ix and Mx for Paget’s disease of the bone
- Asymptomatic until fracture of common area (skull, femur, tibia, pelvis).
- nocturnal long bone and back pain, deformities (skull bossing, bowed legs as poor weight bearing (vagus), hearing loss (at skull base).
- Ix = x-ray of bone shows V SHAPE LYTIC LESION between affected and normal bone, ISOTOPE BONE SCAN shows increased isotope uptake at affected area, high ALP. Rule out osteomalacia and osteopenia.
- Rx = bisphosphonates, pcm, patient education and support.
Pathophysiology of gout
Deposition of monosodium urate crystals.
Either by reduced urate excretion (poor renal function, HTN, diuretics) or excessive urate production (diet intake, tumour lysis syndrome)
Pathophysiology of pseudogout
Calcium pyrophosphate deposition.
Common in elderly, hyperparathyroidism, haemachromoatosis.
Affects larger joints e.g. knee.
What are some causes of vasculitis
Idiopathic
Infection - EBV, Coxsackie virus e.g. in Henoch-Schonlein purpura
Inflammatory disorders - SLE, UC.
Drugs - beta-lactams, sulfonamides, thiazide diuretics.
Complication of Polyarteritis nodosum
Renal failure and accelerated HTN.
Kawasaki’s disease features
Conjunctivitis - bilateral.
Rash - non-vesicular, polymorphous..
lymphAdenopathy - cervical, usually unilateral.
Strawberry tongue and inflammation of lips and mouth
Hands and feet palmar erythema, desquamation.
FEVER >5 days which is refractory to antibiotics.
Ix and Mx for Kawasaki’s
FBC, ESR, CRP
ECHOCARDIOGRAM - increased risk of coronary artery aneurysms.
1st line = IVIG, high-dose aspirin.
2nd line = corticosteroid or infliximab.
Diseases which are positive ANCA and how are the others classified.
Mostly small vessel vascultis.
Granulomatosis with polyangiitis.
Microscopic polyangiitis
Churg-Strauss syndrome (eosinophilic)
If small vessel vasculitis and not ANCA +ve probably Immune Complex Mediated e.g. Henoch-Schonlein purpura (IgA vasculitis), anti-GBM.
Muffled hearing, sinus pain and other upper resp tract symptoms
+
SOB, cough, haemoptysis and other lower resp tract symptoms
+
oedema and hypertension
Granulomatosis with polyangiitis Resp symptoms + HTN. Ix: - Urine dipstick = microscopic haematuria. - CT chest = lung nodules - serum ANCA+ve (c type). Rx: - prednisolone + cyclophosphamide - osteoporosis prophylaxis with alendronic acid + ergocalciferol.
Churg-Strauss overview 🧸
Eosinophilic granulomatosis with polyangiitis.
Inflammation and vasculitis of small vessels.
- late onset asthma, weakness, petechiae and purpura eosinophilia.
- pANCA positive.
- Rx with prednisolone, methotrexate + osteoporosis prevention.
IgA vasculitis
Henoch-Schonlein purpura.
Rash (visible purpura), abdo pain, arthritis/arthralgia, glomerulonephritis.
Ix: urine dipstick (haematuria, proteinuria), high serum IgA, skin / renal biopsies.
Rx: analgesia for joint pain (ibuprofen) and prednisolone for glomerulonephritis.
Blood tests if you think someone has a vasculitis
vasculitis screen
FBC - white cells esp eosinophils (Churg-Strauss)
ESR and CRP
LFT - hepatitis link to PAN
Renal function test
Serology for autoantibodies, immunoglobulins and protein electrophoresis
ANCA, Rheumatoid factor, Complement status
Urine dipstick
CXR
What is osteoarthritis and what are some S+S
Degenerative synovial joint disorder. The repair process changes the joint structure with remodelling of adjacent bone osteophytes and synovitis.
Commonly affected knees hips, hands, lumbar and cervical spine.
Pts are aged over 45yrs.
Joint pain and stiffness WORSE ON ACTIVITY and relieved by rest, causes loss of function.
No morning stiffness (<30mins).
Joint swelling, warmth, effusion.
Creptise
Bouchards and Heberdens deformities
Hand signs in osteoarthritis
Bouchard’s swelling at proximal interphalangeal joint.
Heberdon’s swelling at distal interphalangeal joint.
Warmth, tenderness, joint effusions.
restricted range of movements, crepitus.
Gait in severe osteoarthritis of the hip
Trendelenburg gait - lurching towards affected hip to avoid weight bearing.
Fixed flexion and external rotation deformity = compensatory lumbar lordosis and pelvic tilt.
Gait in severe osteoarthritis of the knee
Varus deformity
Antalgic gait.
RFx for osteoarthritis
OLDER AGE Female Obesity Extremities of bone density Malalignment e.g. DDH Manual or physical stress e.g. pro footballers.
Investigating osteoarthritis
∆ X-RAY (narrow joint space, osteophytes, subchondrial sclerosis, bone cysts)
- Rule out rheumatoid with normal CRP/ESR and negative rheumatoid factor.
Management of osteoarthrits
- Lifestyle advice = weight loss, exercise regime, SCREEN FOR DEPRESSION, walking aids.
- OT, physio, podiatrist.
1. Regular (NOT PRN) simple analgesia = paracetamol +/- topical NSAID.
2. Oral NSAID e.g. ibuprofen +PPI. Intra-articular injections of corticosteroids.
3. Oral Codeine
4. Orthopaedics/Pain clinic.
Difference between rheumatoid and osteo arthritis
RA = systemic inflammatory disease. Smaller joints such as hands and feet. OA = degenerative disease. Larger joints such as hip, knee.
Pathophysiology and S+S of rheumatoid arthritis
- Chronic, autoimmune, inflammatory disease of synovial joints.
- Over 6 weeks of symptoms.
- Symmetrical, swelling and pain in small joints in hands + feet (metacarpophalangeal or proximal interphalangeal).
- WORSE in the morning (longer than 30mins)
- Pain worsens on rest or inactivity.
O/E:
Swan neck deformity, Boutonniere’s deformity, ulnar deviation.
Pain on metacarpophalangeal squeeze test.
Rheumatoid nodules
Vasculitic lesions, pleurtici chest pain, Sjogren’s scleritis and other exrtra-articular signs (seen in 40% of RA pts).
Complications of rheumatoid arthritis
INCREASED CVD risk!! (pericarditis).
Cervical spine instability due to atlanto-axial joint subluxation.
Felty’s syndrome with enlarged spleen and neutropenia.
Signs on examination for rheumatoid arthritis
- Swan neck deformity = distal interphalangeal hyeprflexion with proximal interphalageal hyperextension.
- Boutonniere’s deformity = proximal interphalangeal (PIP) flexion with distal interphalangeal (DIP) hyperextension.
- Ulnar deviation = fingers drift towards ulnar side as tendons pull on unstable joints.
- Z deformity of thumb.
Rheumatoid nodules.
General joint swelling, tenderness and warmth.
RFx for rheumatoid arthritis
Female
FHx - HLA DR4 or DR1
Ix for rheumatoid arthritis
Bloods:
Rheumatoid factor
Anti-CCP (+ve in 80%)
FBC (anaemia of chronic disease), ANA, CRP/ESR, LFT for future Rx,
Imaging:
X-ray of joint (loss of joint space, juxta-articular erosions, soft tissue swelling, softening of bones (osteopenia).
CXR (Caplan’s)
USS or MRI.
Mx of Rheumatoid arthritis
WORK OUT DAS28 🐣
MDT 👨👨👧👦👨👦👨👨👦
Non-pharma = physio, OT, psych screen.
Pharma = ‘treat-to-target’ strategy.
1. DMARD e.g. methotrexate, sulfasalazine, hydroxychloroquine.
2. Combo of DMARDs.
3. No response to 2 DMARD/DAS28 >5.1 = biological either anti IL-6 with Sarilumab or anti-TNF e.g. etanercept.
Side effects of DMARDs
Immunosuppression
Fatigue, GI upset, headache
Mucosal damage - mouth and oesophageal ulcers.
Photosensitivity.
Prescription of methotrexate
Inhibits dihydrofolate reductase.
Weekly administration. It is A NEVER EVENT to give someone more than their intended weekly dose of MTX.
Must take FOLIC ACID while on MTX.
∆∆ acutely swollen joint 🚨
- Septic arthritis
- Crystal arthropathies: gout, pseudogout
- Inflammatory arthritis: rheumatoid, seronegative (psoriatic, reactive), connective tissue disease (SLE, Sjogren’s)
- Vasculitis (Henoch-Schonlein purpura, polyarteritis nodosum)
- Trauma
Septic arthritis
- S.aureus unless STI Neisseria gonorrhoeae.
-Acute onset of hot, swollen, tender joint with restricted movement. - Systemically unwell with fever.
-Hx of RFx e.g IVDU, prosthetic joint, DM. - Ix = joint aspirate for mc+s, WCC and polarised light. TWO blood cultures, FBC, ESR, x-ray of joint (NORMAL), USS of joint.
Rx = complete joint aspiration + ABx e.g. vancomycin, flucloxacillin, clindamycin.
∆∆ lower back pain
🚩Metastatic spinal cord compression (prostate Ca)
🚩AAA
🚩Cauda equina
🚩Psoas abscess
Trauma Spondyloarthritis Musculoskeletal injury to lumbar spine. Herniation of nucleus pulposus (+ve straight leg raise). Spinal stenosis.
What does seronegative mean?
What are some examples of seronegative arthropathies?
Give some common clinical features
- Not positive for rheumatoid factor.
- E.g. psoriatic arthritis, ankylosing spondylitis, reactivee arthritis (Reiter’s syndrome), Enteropathic arteritis.
- Spinal pain, asymmetrical oligoartheritis, enthesitis, skin lesions.
This means that RA, Sjorgren’s and some SLE are seropositive arthropathies.
Psoriatic arthritis:
CFx
Ix
Rx
- Seronegative, chronic inflammatory joint disease associated with psoriasis.
- Small hand joint involvement (good DD for RA)
- Nail changes such as nail pitting, onycholysis and hyperkeratosis. Hand changes including dactylitis (sausage fingers) and sacroiliitis.
- Ix = RF -ve, Anti-CCP -ve. X-ray = pencil-in-cup deformity and erosions.
- Rx = NSAIDs, intra-articular corticosteroid injections, DMARDs.
Ankylosing spondylitis
Seronegative, chronic, progressive inflammatory spondyloarthropathy
- MALE, in early teens/20s, FHx as associated with HLA B27.
- Affects sacroiliac and axial spine joints. Presents with back pain, worse in morning and improves on exercise. - O/E = Schober’s test has decrease flexion of lower spine and decrease chest expansion
- Alternating buttock pain.
- Extra-articular S+S = entheses (achilles tendonitis, planar fasciitis), ACUTE ANTERIOR UVEITIS.
- Can lead to spinal fusion = BAMBOO SPINE.
- Ix = x-ray of lower spine/pelvis will show joint space changes, sclerosis, erosions and bamboo spine, HLA B27, MRI (bone marrow oedema)
- Rx = exercise regime with physio, NSAIDs, intra-articular corticosteroid injections, anti-TNF.
Joint pain, dactylitis, onychylosis, nail pitting
Psoriatic arthritis
Polymyaglia rheumatica
- Often seen within GCA. Same demographic of females.
- Bilateral tenderness, aching and MORNING stiffness of shoulders and hips.
- Fatigue, fever, weight loss, anorexia, depression NOT WEAKNESS.
- High CRP/ESR, Raised ALP, normal CK.
- Rx = prednisolone, is very very effective.
Fibromyaglia
- Multiple sites (11 out of 18 points) of chronic pain, fatigue, sleep disturbance, anxiety, headaches, paraesthesia.
- Clinical ∆
- Rx = patient education, physical therapy and exercise, psychological therapies, sleep hygiene. PCM/NSAIDs/Amitriptyline.
Difficulty with vision and my knees hurt. PMH of a diarrhoea episode 1 month ago
- Reactive arthritis / Reiter’s Disease.
- Gram negatives e.g. Chlamydia, Campylobacter, Salmonella or Shigella infection 1-4 weeks ago.
- Sterile conjunctivitis, non-gonococcal urethritis, post-infective asymmetrical arthritis (can’t wee, can’t see, can’t climb a tree).
- Brown plaques on palms and soles (keratoderma blenorrhagica).
- HLAB27 association.
- Ix = raised ESR/CRP, joint aspiration to rule out septic arthritis, stool mc+s for causative organism or PCR and NAAT of genitalia swab for Chlamydia.
Rx = NSAID, intra-articular steroids, ABx for Chlamydia.
NB the joint is sterile, no infection there!
get joint pain in my knees and recurrent oral ulcers
Behcet’s disease
HLA B51
Can affect any size of blood vessel
Back pain red flags 🚩
Trauma. Unexplained weight loss/anorexia. Neurological symptoms e.g. bladder/bowel dysfunction. Age - over 50 or under 20. Fever and night sweats Immunosuppressed or IVDU Steroid use Hx of cancer
Name some autoimmune and name some inherited connective tissue disorders
Autoimmune=
SLE, Systemic sclerosis, Sjogren’s syndrome
Inherited =
Ehlers-Danlos syndrome, Marfan syndrome, osteogenesis imperfecta.
Marfan syndrome
- Autosomal dominant inheritance.
- Mutation in fibrillin-1 gene, causes poor elastin and connective tissue.
- S+S = tall, joint hyper-mobility, aortic aneurysms or dissection, skin striae, hernias, pneumothorax, mitral valve prolapse.
- Criteria 3 out of 4 = FHx, MSK abnormality, ocular lens subluxation, aortic dilation/dissection.
- Ix = echocardiogram, chest CT. Slit lamp and intra-ocular pressure, bod USS. Molecular genetic testing.
- Rx = MDT. prevent aortic dissection with aortic root replacement, beta-blocker, corrective contact-lens.
Ehlers-Danlos syndrome
- Various mutation of collagen, fibrillin and other matrix proteins.
- S+S = joint hyper mobility, skin hyper elasticity, easy bruising, poor wound healing, semi-transparent dermis.
- Ix = molecular genetic testing.
- Rx = MDT
Immunodiagnostics for SLE
ANA +ve (IgG) Autoantibodies: dsDNA, anti-Smith, ENA, anti-Ro and some others Low C3 and C4 RF in around 40% Antiphospholipids +ve Coomb's test +ve
Who presents with SLE
Females of child-bearing age often Africa/Asian descent living in Europe.
Criteria (S+S) for systemic lupus erythematosus
4 out of 11:
Discoid rash
Oral ulcers - painless
Photosensitivity rash - seen on neck and face and hands.
Arthritis
Malar rash
Immunological involvement e.g. dsDNA, anti-smit antibdoies.
Neurological disorder e.g. seizures, psychosis.
ESR raised - not CRP.
Renal disorder e.g. proteinuria, cellular casts.
Antinuclear antibody positive.
Serositis e.g. pleuritis or pericarditis
Haematoligical disorder e.g. haemolytic anaemia, leukopenia, lymphopenia, thrombocytopenia.
Describe the rashes seen in SLE
Malar = erythema on cheeks (butterfly rash). can be bullous in nature. Seen in ACUTE SLE Photosensitive = on forearms, neck and face from sun exposure. Discoid = erythematous raised plaques with scales (similar to psoriasis). More common SUBACUTE SLE.
Apart from the 11 criteria for ∆ what other symptoms can you get with SLE
Raynaud's phenomenon Nail-fold infarctions Weight loss Hair loss Malaise, myalgia, fatigue. Non-infective endocarditis.
Complications of systemic lupus erythematosis
Renal disease
Treatment related e.g. corticosteroid osteoporosis
Infection from immunosuppression
Pulmonary HTN
Ix for SLE and which are best for monitoring the disease
FBC (anaemia), U+E (high urea and creatinine), ESR (high), CRP (normal).
Anti-nuclear antibodies, anti-dsDNA, anti-Smith autoantibody serology.
Urinalysis
CXR
ECG
Coomb’s test
Renal USS
to be honest anything would be justified 🤯
To monitor: anti-dsDNA titre, C3 and C4, ESR.
Mx of lupus
Lifestyle = avoid the sun/wear suncream, regular exercise, reduce alcohol and smoking.
- Moderate flare ups = Hydroxychloroquine. Can use NSAIDs for joint pain.
- Severe flare ups = High-dose steroids ASAP / cyclophosphamide or methotrexate + folic acid.
Which drugs can cause lupus and how can you investigate whether it is drug induced lupus or for-real SLEP
Isoniazid, hydralazine, phenytoin, anti-TNF drugs e.g. etanercept.
Antihistone antibody is positive in drug-induced lupus.
Lupus nephritis Rx
Cyclophosphamide + prednisolone + hydroxychloroquine.
‘Opera-glass’ hand
Psoriatic arthritis in particular arthritis mutilans.
pencil- in-cup x-ray
Psoriatic arthritis
Side effect of colchicine
DIARRHOEA
Side effect of allopurinol
Rash
Finger joint pain + splenomegaly + get a lot of infections
Felty’s syndrome
RA, neutropenia, splenomegaly.
Describe the innervation of the hand
Test motor:
ULNAR = Froment’s sign/thumb flexion when pulling paper is abnormal.
RADIAL = cock wrists up.
MEDIAN = Thumb abduction, Phalen’s or Tinnel’s test.
Test sensation:
ULNAR = little finger and most of the ring finger front and back.
RADIAL = back of hand and thumb (including snuff-box) , lower parts of the back of pointing and index finger.
MEDIAN = palmar surface of thumb, index and pointing finger and top parts of the index and pointing finger on the back of hand.
What do most seronegative arthropathies all have inc common
HLA B27 association Rheumatoid factor negative Extra-articular manifestations including anterior uveitis, IBD, mouth ulcers. Entheses of tendons and ligaments Dactylitis.
Got arthritis 🦵 and UC
Enteropathic arthritis.
What skin sign can you get with reactive arthritis
Keratoderma blenorrhagia (brown plaques on soles and palms)
Spinal X-ray of ankylosing spondylitis
Dagger sign = fusion of spinal process
Bamboo spine = Syndesmophytes fuse vertebrae together.
Score for ank spond
BASDAI score
Which DMARD is retinotoxic
Hydroxychloroquine
Antiphospholipid syndrome
- Antiphospholipid antibodies = lupus anticoagulant, anticardiolipin antibodies, anti-beta2-glycoprotein I.
- Coagulation defects (VTE, arterial emboli), livedo reticularis, obstetric complications, thrombocytopenia.
- Rx - anticoagulation (warfarin) and specialist obstetric care.
Antiglomerular basement membrane antibody causes what disease
Goodpasture’s syndrome.
Attack kidney and alveolar basement membranes.
Rapidly deteriorating renal function and lung haemorrhage.
Describe the two main types of systemic sclerosis
Limited cutaneous = CREST, most common. Slower onset of symptoms. Calcinosis, Raynaud’s disease, Oesophageal dysmotility, Sclerodatylyl, Telangiectasia. Autoantibody = anti-centromere.
Diffuse cutaneous = more rapid onset. Diffuse skin thickening including arms, thighs, trunk and Raynaud’s disease occurring simultaneously. More internal organ involvement. Higher risk of mortality. Autoantibody - anti-RNA polymerase III.
Pathophysiology behind systemic sclerosis
Excessive collagen production and deposition
Vascular damage
Immune system activation via autoantibodies.
- Vasculopathy
- Fibrosis
- Immune system activation with autoimmunity.
Presentation of CREST syndrome
Calcinosis = calcium deposits in skin
Raynaud’s disease = spasm of blood vessels in response to cold environment.
Oesophageal dysmotility = acid reflux.
Sclerodactylyl = thickening and tightening of skin on fingers
Telangiectasia = dilation of capillaries.
S+S of diffuse systemic sclerosis
Hand = non-pitting oedema/swelling, sclerodactylyl (thickening of skin), reduce range of movement, ulcers and loss of bulk at finger pads, Raynaud’s disease.
Skin = telangiectasia, dry and itchy skin, calcinosis nodules, areas of hypo and hyper -pigmentation.
MSK = arthralgia, arthritis, palpable tendon friction rub.
GI = V V COMMON, acid reflux/heartburn, dyaphagia, early satiety, diarrhoea/constipation, upper GI bleed from watermelon stomach.
Pulmonary = pulmonary fibrosis, pulmonary hypertension.
Cardiac = CAD/MI, myocardial fibrosis, pericarditis or pericardial effusion, arrhythmias.
Renal = proteinuria, reduced eGFR, scleroderma renal crisis.
GU = erectile dysfunction, dyspareunia.
Ix for systemic sclerosis
Bloods =
FBC, ESR+CRP, renal function.
Serology for autoantibodies: anti-topoisomerase 1, anti-centromere (limited SS), antiRNA polymerase III (diffuse SS)
Lab = Urine dipstick Hand x-ray Echocardiogram Spirometry, CXR Nailfold capillaroscopy Barium swallow and endoscopy for gastric antral vascular ectasia or WATERMELON STOMACH.
Important presentations of systemic sclerosis and Mx.
Pulmonary HTN - phosphodiesterase 5 inhibitor e.g. Sildenafil.
GI bleed - transfuse, assess Blatchford score, endoscopy.
Scleroderma renal crisis = ACE inhibitor e.g enalapril.
Mx of systemic sclerosis
Non-pharma = Patient eduction. Physio, OT. Monitor BP, renal function closely.
Pharma = Immunosuppression e.g. cyclophosphamide
Organ based Rx =Nifedipine for Raynaud’s. NSAIDs for arthralgia, PPI for reflux etc etc
Difference between primary and secondary Sjogren syndrome
Primary = solitary autoimmune. Secondary = with other autoimmune diseases e.g. SLE, RA, systemic sclerosis.
S+S of Sjorgren’s syndrome
Dry eyes = ‘gritty’ sensation, blepharitis.
Dry mouth = altered taste, difficulty eating drier foods (biscuits), hoarse voice on speaking, oral candidiasis,
dry cough, dysphagia, malabsorption (high amylase), dry skin, purpura.
Salivary gland enlargement
Raynaud’s phenomenon
Fatigue
Myalgia, arthralgia
O/E: submandibular or parotid gland enlargement.
Ix for Sjogren’s
Bloods: FBC
Urinalysis
Serology for autoantibodies = Rheumatoid factor, ANA, anti-Ro, anti-La
Lab:
Schirmer test for assess hydration of eye.
Functional testing of glands e.g. parotid sialography.
Biopsy and histopathology of salivary gland
Pathophysiology of Sjogren’s
Sicca complex = diminished lacrimal and salivary gland function.
HLADR3
Mx for Sjogren’s
MDT - dermatology, rheumatology, ophthalmology.
Dry eyes = artificial tears, humidification of eyes
Dry mouth = good hydration and dental hygiene, artificial saliva, pilocarpine tablets
Cyclophosphamide or anti-TNF.
Due to low complement are at risk of non-hodgkin’s lymphoma.
Dermatomyositis
- Striated muscle inflammation.
- Progressive symmetrical proximal muscle weakness. Myalgia and arthralgia. Fever, interstitial lung fibrosis, arrhythmias, GI ulcers
- Derm involvement = macular rash, heliotrope on eyelids, nail fold erythema, Gottron’s papules over knuckles.
- Myositis can be a paraneoplastic phenomenon from lung, pancreatic, ovarian or bowel Ca.
- Ix = for cancer, raised muscle enzymes (ALT, AST, lactate dehydrogenase, CK, aldolase), EMG (fibrillation potentials), muscle biopsy to ∆.
- Autoantibodies = anti-mi2, anti-jo1.
- Mx = prednisolone, immunosuppressants e.g. hydroxychloroquine.
Muscle enzymes which are raised in myositis and what other Ix would you do?
ALT, AST, lactate dehydrogenase, creatinine kinase, aldolase.
EMG - spontaneous activity (fibrillation)
Muscle biopsy
What clinical features are seen in dermomyositis and not in myositis
Derm stuff = macular rash (shawl) Gottron's papules on knuckles and elbow heliotrope oedema on eyelids nail fold erythema
Risk factors for pseudogout
Increasing age
Hyperparathyroidism
Hypomagnesia
Haemchromatosis
What cancer are Sjorgren’s patients at high risk of
Non-hodgkin’s lymphoma due to low complement.
Name 3 antibodies involved in anti-phospholipid syndrome
Anticardiolipin
Anti-b2-glycoprotein I
Lupus anticoagulant
Name 4 medicines to prescribe in giant cell arteritis
Prednisolone ASAP
Aspirin
PPI and bisphosphonates for steroid SE
Tocilizumab for relapsing or refractory disease
Antibodies specific for granulomatosis with polyangiitis
PR3 ANCA
Vasculitis associated with hepatitis B and clinical features
Polyarteritis nodosa, a medium vessel, necrotising vasculitis, leasing to micro-aneurysms.
CFx: haematuria, proteinuria, skin ulceration, mono neuritis multiplex, abdo pain, MI.
2 causes of death in granulomatosis with polyangitis
Pulmonary haemorrhage
Renal failure from rapidly progressive glomerulonephritis.
Vasculitis associated with atopy, symptoms and Ix.
Churg-Strauss Syndrome.
Late onset asthma, paranasal sinusitis, peripheral neuropathy e.g. mononeuritis multiplex.
Ix = eosinophilia, pANCA +ve
Pathology behind dactylitis in psoriatic arthritis
Resorption of bone at metacarpals and phalanges causes telescoping of digits.
What differential must you exclude before reactive arthritis
Septic arthritis. The bacteria such as Neisseria gonorrhoea or Salmonella could also cause septic arthritis. Do a joint aspirate culture.
