MSK + Rheumatology

Question 1

What is the pathogenesis of osteoarthritis

Answer 1

Cartilage loss with accompanying periarticular bone response. Inflammation of articular and periarticular structures leading to disordered repair
Progressive destruction, more cartilage destruction than can be compensated for, focal erosion of cartilage and disordered repair (death of chondrocytes) - fibrillated and fissured
Weaker cartilage causes microfractures and cysts on bone, attempted repair causes sclerotic subchondral bone and joint margins to become calcified (osteophytes)

Question 2

What is the presentation of osteoarthritis including on Xray

Answer 2

Onset is progressive, pain is relieved by rest/ worse with movement, transient (<30m) morning stiffness
Radiological: (LOSS) loss of joint space, osteophytes, subchondral sclerosis + subchondral cysts; abnormal bone contours
Joints involved: distal interphalangeal (not RA), carpometacarpal, metatarsophalangeal, weight bearing joints - feet, knee, hips, spine
Hands: bouchard’s (pip) and heberden’s (dip) nodes

Question 3

How is osteoarthritis diagnosed

Answer 3

Clinical diagnosis
X rays. MRI can be used if spinal and affecting cord, something else suspected. Joint fluid analysis (rule out)
Bloods: CRP + ESR, RF, anti CCP

Question 4

How is osteoarthritis managed

Answer 4

Non medical: activity (strength), weight loss, footwear, walking aids, orthoses, occupational therapy
Topical NSAIDs FL, paracetamol + topical, oral NSAID + PPI, weak opioids / intra articular steroid if necessary. Rarer DMARDs
Surgery: arthroplasty (knee or hip) if uncontrolled pain, significant limit of function, age considered; only indication for arthroscopy is knee locking due to loose body. Also osteotomy and fusion (ankle + foot)

Question 5

What is the pathogenesis of rheumatoid arthritis

Answer 5

Primarily a synovial disease, chemoattractants are produced in the joint, recruiting circulating inflammatory cells. Overproduction of TNF-alpha leads to synovitis and joint destruction
Synovium proliferates (also new blood vessels) and expands over the cartilage, subsequently weakening by taking its nutrition

Question 6

How does rheumatoid arthritis present

Answer 6

Slowly progressive (>6w), symmetrical, multiple joints, swollen warm + tender, stiff in morning (>1h), cold exacerbates, movement limitation and muscle wasting
Small joints first: metacarpophalangeal, proximal interphalangeal (DIPs not involved), metatarsophalangeal; larger joints (no spine): wrists, elbows, shoulders, knees, ankles
Hand defects: z shaped thumb, swan neck (hyperextended PIP + flexed DIP), boutonniere (flexed PIP + hyperextended DIP), ulnar deviation (fingers at MCP)
Systematic: weight loss, fever, fatigue, dry eyes + mouth, skin nodules, rashes + ulcers, raynaud’s

Question 7

How is rheumatoid arthritis diagnosed, how does it present on Xray

Answer 7

Clinical diagnosis by rheumatologist, confirmed by tests
Rheumatoid factor blood test - positive in 70% but not specific. Positive anti ccp 96% specific but positive in ~70%. Raised ESR + CRP but normal in 40%
X ray, ultrasound, MRI: tissue swelling then joint erosion and space narrowing
LESS: loss of joint space, erosions, soft tissue swelling, see-through bones (osteopenia)
SPADES: soft tissue swelling, periarticular osteoporosis, absent osteophytes, deformity, erosions (late), subluxation (late)

Question 8

How is rheumatoid arthritis managed

Answer 8

Lifestyle: smoking cessation, reduce weight, exercise

Early DMARD: low disease activity: hydroxychloroquine (weakest, least SEs), sulfasalazine; methotrexate (+ folic acid), leflunomide

Pregnancy: steroid, sulfasalazine / hydroxychloroquine

Short term oral steroids can be used for flares, NSAID for pain + PPI

Biological (very expensive): TNF inhibitors - etanercept FL, infliximab, slow/ halt erosion, stimulates osteoclast, risk of infection/ hypersensitivity

Question 9

What is the pathogenesis of gout and pseudogout

Answer 9

Gout: purines (from diet and natural production) → (xanthine / xanthine oxidase) uric acid → kidneys
Hyperuricaemia - monosodium urate crystals (20% chance of gout), deposition in joints (previous trauma and lower temperatures), trigger intracellular inflammation
Also lack of excretion: renal impairment, thiazide diuretics

Deposition of calcium pyrophosphate in articular cartilage and periarticular tissue

Question 10

What is the presentation of gout and pseudogout

Answer 10

Acute gout: sudden onset, agonising pain, swelling, redness. Usually one joint (first metatarsophalangeal) but sometimes poly. Can be exacerbated by food, alcohol, cold, trauma
Chronic (rare): elderly on long term diuretics in renal failure

Pseudo: Knees > wrists&raquo_space; shoulders > ankles > elbows

Question 11

How is gout investigated

Answer 11

Joint fluid aspiration and microscopy (needle shaped crystals that are negatively birefringent), exclude septic arthritis (synovial WBC >2*10^9)
Serum uric acid raised, US, dual energy CT, X ray
Routine bloods (raised WCC, check renal function), inflammatory markers

Question 12

How is gout managed

Answer 12

Acute: NSAIDs, colchicine (targets uric acid crystallisation, toxic in high doses), steroids
2nd line: interleukin inhibitor anakinra / canakinumab

Chronic: allopurinol inhibits FL (xanthine oxidase inhibitor) (may trigger an attack, wait 3 weeks after episode), febuxostat SL (less uric acid) as well as NSAIDs + colchicine / steroid
weight loss, avoid alcohol/ purine rich food, dairy helps. Treatment for at 3-6m
Monitor with serum uric acid

Question 13

What are the risk factors for gout

Answer 13

High alcohol (beer most), purine rich foods (red meat, seafood), high fructose, high fat, low dose aspirin, thiazide diuretics
Diabetes, ischaemic heart disease, hypertension, nonalcoholic fatty liver, proliferative blood disorder
Men over 40, increases in post menopausal women

Question 14

What is the pathogenesis of osteoporosis

Answer 14

Naturally lose bone mass / mineralisation with age/ loss of oestrogen restriction both cause higher turnover: (predominantly) cancellous bone lost, not enough mineralisation, microarchitectural disruption
Oestrogen deficiency: increased osteoclasts, premature arrest of osteoblast activity
Age: decrease in trabecular thickness (preferentially strengthens vertically)

Can also be exacerbated by low calcium / vit D, steriods, chronic diseases (CKD, hyperthyroidism)

Question 15

How is osteoporosis investigated

Answer 15

Dual energy X ray absorptiometry (DEXA) gold standard - area, bone mineral density, density, T score; enough for diagnosis
T score (bone density standard deviation from mean of young and healthy): > -1 healthy, -1 > -2.5 osteopenia, < -2.5 osteoporosis
Z score is standard deviations from the average for their sex, age, ethnicity
Fracture risk assessment tool, FRAX: age, sex, BMI, previous fracture, parental fractured hip, current smoking, steroids, RA, secondary osteoporosis, alcohol (>3 units / day), femoral neck BMD
Also X ray / quantitative CT / US, bloods (calcium (+ albumin), phosphate, alkaline phosphatase, creatinine, vit D, parathyroid)

Question 16

How is osteoporosis managed

Answer 16

Lifestyle: alcohol + smoking, weight bearing exercise, calcium + vitamin D diet/ supplements
Bisphosphonate FL (alendronic acid), hormone replacement therapy, denosumab (women) / teriparatide (men)

(Bisphosphonate, high affinity to hydroxyapatite → eaten by osteoclasts and kills. Denosumab, monoclonal antibody that inhibits RANK ligand. Teriparatide (PTH analogue) increases osteoblast activity, more available calcium
Risk of reflux + oesophageal erosion - empty stomach with full glass, sit upright for 30m. Also risk of osteonecrosis of jaw / femoral neck / external auditory canal)

Question 17

What are the risk factors for osteoporosis

Answer 17

SHATTERED: steroids, hyper(para)thyroidism, alcohol + tobacco, thin, testeosterone decreased, early menopause, renal + liver failure, erosive + inflammatory disease

Question 18

Describe seronegative axial spondyloarthopies

Answer 18

Group of overlapping conditions that are associated with HLA-B27 share certain features. Psoriatic, enteropathic, reactive, undifferentiated, ankylosing spondylitis

SPINEACHE: sausage fingers (dactylitis), psoriasis, inflamed back (axial involvement), NSAIDs response, enthesitis (tendon attachment), arthritis, Crohn’s/ colitis, HLA B27, eyes (uveitis, iritis)

Question 19

Describe the presentations of the different seronegative spondyloarthopathies

Answer 19

Ankylosing spondylitis: episodic inflammation of sacroiliac joint, pain to hips/ buttocks, progressive loss of spinal movement as it fuses and new bone forms, causes severe hunchback
Psoriatic: closely resembles RA (small joints, symmetrical, hands), most common pattern is distal interphalangeal only. Can have arthritis mutilans - destructive loss of architecture (floppy fingers)
Reactive: inflammation triggered by infection, 2d-2w following infection, asymmetrical, lower limbs
Enteropathic like reactive, reflects disease activity (IBD etc)

Question 20

What are the 5 key associations with ankylosing spondylitis

Answer 20

5 As: anterior uveitis, aortic regurgitation, AV block, apical lung fibrosis, anaemia of chronic disease

Question 21

How is ankylosing sponylitis investigated

Answer 21

Bloods: HLA-B27, ESR + CRP, RF, anti-ccp.
Xray, joint aspiration / US
Psoriatic increased risk of metabolic syndrome: lipids, glucose, uric acid
Xray: bamboo spine (late), squaring of vertebral bodies, subchondral sclerosis, bone growth / ossification of ligaments / discs / joints, fusion of sacroiliac / facet / costovertebral joints

Question 22

How is ankylosing spnodylitis managed

Answer 22

Axial: high dose NSAIDs (+PPI), paracetamol / codeine
Resistant to NSAIDs: etanercept (anti-TNF), secukinumab (IL-17 inhibitor)
Peripheral arthritis: methotrexate/ sulfasalazine, DMARD fails - etanercept, oral / injection steroid
Enthesitis: steroid injections, dactylitis - etanercept
Stop smoking, exercise, physio

Question 23

What is the presentation of septic arthritis

Answer 23

Acute presentation: swollen, red, inflamed, warm, reduced ROM. also fever, chills, rigours
90% monoarthritis, large joints: knee > hip > shoulder
If suspected treat as septic arthritis until proven otherwise
History of infection or joint replacement

Question 24

How is septic arthritis managed

Answer 24

Joint aspiration first, gram staining, crystal microscopy, culture and antibiotic sensitivity
Empirical IV Abx until sensitivities known
Abx given for 4-6w, flucloxacillin / clindamycin
Prosthetic joint no aspiration, straight to surgery
Paracetamol / ibuprofen

Question 25

What is the pathogenesis of osteomyelitits and the most common pathogen

Answer 25

Infection needs to enter bone Direct inoculation, trauma, surgery - poly or monomicrobial Contiguous spread from adjacent soft tissue + joints (more common in children) - poly or mono Haematogenous spread, in children affects long bones, in adults vertebrae (each the most vascularised, vertebrae increase with age) - difficult so usually mono Most common: staph aureus, coag-neg staph, aerobic gram negative bacilli Salmonella in sickle cell, serratia marcescens in IV drug (clavicle/ pelvis)

Question 26

Describe the presentation and investigations for osteomyelitis

Answer 26

Onset of several days, dull/ nonspecific pain at site, aggravated with movement, fever, inflammation, tenderness, erythema Chronic: draining sinus tracts, ulcers, non healing fractures, sinus tracts Bloods: FBC, ESR + CRP, culture X ray FL/ MRI GS, bone biopsy (benefits vs cost if sick)

Question 27

How is osteomyelitis treated

Answer 27

Sepsis 6, follow local protocol IV flucloxacillin (vancomycin) - switch to sensitive, analgesia, immobilise limb MRSA high prevalence - vancomycin FL, suspected pseudomonas - piperacillin/tazobactam Surgical debridement of infected tissue. Native vertebral infection to spinal surgeons

Question 28

What is the presentation of SLE

Answer 28

Most common presentation is a rash - malar (butterfly), photosensitive, discoid Systemic: fatigue, weight loss, fever, arthralgia (like RA), myalgia Inflammation / AI: oral ulcers, alopecia, Raynaud’s, pleuritis, pericarditis, lymphadenopathy, thrombosis, splenomegaly Lupus nephritis is usually subclinical at start of disease: hypertension, oedema

Question 29

What is the pathophysiology of SLE

Answer 29

Relapsing and remitting, chronic inflammation, caused mainly by antinuclear antibodies (ANA) against proteins in the nucleus. Anti DsDNA present in around 50% but highly specific

Question 30

How is SLE investigated

Answer 30

Test for antibodies: antinuclear antibodies (ANA) (not specific, cheap, 95% positive), anti double stranded DNA antibody (highly specific, positive in 60%) Bloods: FBC, activated partial thromboplastin (clotting), U+Es, ESR + CRP ESR is raised but CRP is normal = systemic inflammation FBC - check for leukopenia Urinalysis for renal involvement in all, CXR + ECG if cardiopulmonary symptoms

Question 31

How is SLE managed

Answer 31

Lifestyle: diet (CV risk), smoking cessation, sun protection, exercise, psychological therapy Hydroxychloroquine FL, NSAIDs, steroids or azathioprine More severe: DMARDs (methotrexate, mycophenolate), tacrolimus, biologics (rituximab, belimumab)

Question 32

Describe macrophage activation syndrome

Answer 32

Potentially life threatening complication of rheumatic diseases, especially systemic JIA and SLE. Excessive and uncontrolled activation of macrophages and T cells producing a cytokine storm and phagocytosis of blood cells. Fever, pantocytopaenia, heaptosplenomegaly + liver dysfunction, hyperferritinaemia, coagulopathy Treat with IV prednisolone and ciclosporin

Question 33

Describe Paget's disease

Answer 33

Focal disorder of bone remodelling, increased resorption followed by formation of weaker bone Unknown aetiology, latent infection / family history common 60-80% asymptomatic, bone + joint pain, deformities (bowed tibias, skull changes), nerve compression - deafness (C8), paraparesis Increased serum alkaline phosphatase but normal calcium and phosphate (increased turnover), X ray Bisphosphonates, NSAIDs, monitor

Question 34

Describe osteomalacia

Answer 34

Poor mineralisation due to a lack of calcium/ vitamin D leading to soft bone Dull aching pain (most commonly in lower back, pelvis, hips, legs, ribs), may be worse at night, decreased muscle tone and leg weakness - slow, waddling gait Rickets: growth retardation, knocked knees and bowed legs, muscular spasms

Question 35

What are the two types of systemic sclerosis and how do they present

Answer 35

2 patterns: limited cutaneous and diffuse cutaneous; LC = CREST syndrome: calcinosis, Raynaud’s, esophageal dysmotility, sclerodactyly, telangiectasia DC: CREST + organ involvement, cardiovascular (HTN, coronary artery disease), lung (pulmonary hypertension + fibrosis), kidney (scleroderma renal crisis) Presentation: scleroderma (hardened, tightened skin), sclerodactyly (tight skin affects ROM), telangiectasia, calcinosis (calcium deposits on skin), reflux, oesophagitis / chest pain, Raynaud’s Diffuse: dry cough, SOB; renal crisis: severe HTN

Question 36

How is systemic sclerosis investigated and managed

Answer 36

Investigations: autoantibodies, FBC (normocytic anaemia), inflam markers, U+Es, hand Xray ANA non specific in 90%; also Anti-centromere = limited, Anti-Scl-70 = diffuse Treatment with DMARDs (methotrexate) and biologics (rituximab). Raynaud's - nifedipine, reflux - lansoprazole, GI upset - metoclopramide, HTN - ACE, pulmonary HTN - bosentan Avoid smoking, gentle skin stretching, regular emollients, avoid cold, physio, occupational therapy

Question 37

Describe dermato/polymyositis, investigations and treatment

Answer 37

Autoimmune conditions causing proximal muscle inflammation and weakness. Can be caused by infection, cancer (paraneoplastic), slight genetic association (HLA) Presentation: gradual onset + symmetrical + proximal muscle weakness (difficulty standing, stairs), myalgia Dermato also involves characteristic skin changes - Gottron papules on hands and heliotrope rash on eyelids, periorbital oedema, photosensitive erythematous rash Diagnosis: creatinine kinase key investigation, clinical features. Also Autoantibodies, EMG, MRI, muscle biopsy Anti-Jo-1 associated with poly Steroids FL, immunosuppression (methotrexate, azathioprine), IVIg, biologics (infliximab, etanercept). Managed by rheumatologist, assessed for underlying cancer

Question 38

Describe antiphospholipid syndrome, presentation, investigations and management

Answer 38

Autoimmune disorder, antibodies target phospholipids on cell surfaces and phospholipid binding proteins involved in the clotting process, inflammation and thrombosis 3 antibodies: lupus anticoagulant, anticardiolipin Abs, Anti-beta-2 glycoprotein 1 Abs Associated strongly with SLE, also livedo racemosa (purple reticular rash), nonbacterial endocarditis, thrombocytopenia Presentation is only recurrent VTE / arterial thrombosis / pregnancy issues Diagnosis clinical with persistent presence of antibodies Mx: long term warfarin (INR 2-3), enoxaparin + aspirin used in pregnancy

Question 39

What is the pathogenesis and presentation of Sjogren's

Answer 39

Autoimmune condition affecting the exocrine glands - notably lacrimal and salivary. Antibodies anti-Ro (SS-A) and anti-La (SS-B). 50% develop extraglandular involvement Secondary occurs following other AI conditions: RA, SLE Complications: keratoconjunctivitis sicca, corneal ulcers; oral candida infections; vaginal candida, sexual dysfunction Presentation: sicca (dry eyes and mouth) + saliva gland enlargement, dyspareunia, dry skin, dysphagia, otitis media, pulmonary infection Extraglandular: vasculitis (purpura, urticaria), arthritis, dental caries, glomerulonephritis, peripheral neuropathy

Question 40

How is Sjogren's diagnosed and managed

Answer 40

Schirmer test (filter paper under lower eyelid, measure diffusion after 5m, <10mm), saliva gland biopsy, bloods: antibodies, raised ESR + normal CRP, FBC Symptomatic management: artificial tears + saliva, vaginal lube, pilocarpine, hydroxychloroquine for arthritis Pilocarpine stimulates muscarinic receptors - increasing saliva and lacrimal secretion

Question 41

Describe the presentation, diagnosis, management of polymyalgia rheumatica

Answer 41

Presentation: rapid onset of symptoms, pain and stiffness of shoulders / neck / pelvic girdle. Worse in the morning (45m to resolve) / after inactivity, interferes with sleep Systemic: weight loss, fatigue, low grade fever, carpal tunnel syndrome, peripheral oedema Clinical diagnosis + response to steroids. Before steroids to rule out: FBC, U+E, LFT, calcium, serum protein electrophoresis, TFTs, creatinine kinase, RF, urine dipstick 15mg prednisolone daily - dramatic improvement after a week, slowly reduce for 1-2y Long term steroids - don’t STOP: don’t stop abruptly, sick day rules, treatment card, osteoporosis prevention (bisphosphonates + calcium + vit D), PPI

Question 42

Describe the presentation, diagnosis, management of giant cell arteritis

Answer 42

Presentation: unilateral headache + scalp tenderness, jaw claudication, blurred vision, loss of vision Prodromal features: malaise, weight loss, fever Associate: polymyalgia rheumatica, carpal tunnel syndrome, peripheral oedema 3 of 5 diagnostic criteria: >50y, new headache, temporal artery abnormality (tender, decreased pulse), elevated ESR (>50mm per hour), abnormal biopsy Biopsy and duplex US or temporal artery 40-60mg prednisolone or 500-1000mg of methylprednisolone if eye / jaw symptoms; weaned over 1-2y Aspirin, PPI, bisphosphonates + calcium + vit D

Question 43

Describe the presentation, diagnosis and management of Ehler-Danlos

Answer 43

Hypermobile EDS most common and least severe, soft and stretchy skin Classical: remarkably stretchy skin (soft and velvety), severe hypermobility, joint pain, abnormal wound healing, lumps over pressure points, prone to hernias Vascular: most severe, vessels prone to rupture, thin + translucent skin, GI perforation, spontaneous pneumothorax Kyphoscoliotic: hypotonia as infant, kyphoscoliosis as they grow, significant hypermobility, only recessive Other symptoms: easy bruising, bleeding, chronic pain + fatigue, autonomic dysfunction, IBS, menorrhagia, premature rupture of membranes, urinary incontinence Beighton score for hypermobility, clinical diagnosis + genetics No cure, physio + occupational therapy, moderating activity, psychology

Question 44

Describe the presentation and management of Behcet's

Answer 44

Main features are oral and genital ulcers: >3/y, painful, sharply circumscribed, red halo, 2-4w Also: erythema nodosum, papules / pustules like acne, anterior / posterior uveitis, retinal vasculitis, retinal thrombosis, stiffness + arthralgia, GI ulcers, aseptic meningitis, cerebral venous thrombosis, aneurysms, DVT + budd-chiari Topical + systemic steroids, colchicine, topical anaesthetics, azathioprine / infliximab