MSK + Rheumatology Flashcards

Question

What is the aetiology of gout?

Answer 1

Urate crystals are deposited in the joint causing it to become hot, swollen and painful

Answer 2

Male Obesity High purine diet (meat and seafood) Alcohol diuretics Existing cardiovascular or kidney disease Family history

Answer 3

↑uric acid/CKD --> impaired excretion of uric acid --> monosodium urate

Answer 4

asymptomatic hyperuricaemia - uric acid is building up in the blood and starting to form crystals around joints acute/recurrent gout - symptoms start to occur, causing a painful gout attack inter-critical gout - periods of remission between gout attacks chronic tophaceous gout - frequent gout pain and tophi form in jointsf

Answer 5

Monoarticular and typically big toe Sudden onset, severe swollen big toe - can’t put weight on it!

Answer 6

can be diagnosed clinically or using joint fluid aspirate (no bacteria + needle shape crystals, negatively birefringent of polarised light, monosodium urate crystals)

Answer 7

Diet changes - ↓purines, ↑dairy NSAIDs then consider colchicine, then steroid injection prevention : allopurinol (xanthine oxidase inhibitor)

Answer 8

Most commonly seen in the metatarsophalangeal joints (base of big toe), wrists and carpometacarpal joints (base of thumb)

Answer 9

calcium pyrophosphate crystals deposit along joint capsule Also known as chondrocalcinosis

Answer 10

Elderly females (70+) Diabetes Metabolic diseases osteoarthritis

Answer 11

Often polyarticular with knee commonly involved Swollen hot red joint

Answer 12

Joint aspiration + polarised light → +vely birefringent, rhomboid shaped crystals

Answer 13

chondrocalcinosis (thin white line in the middle of joint space caused by calcium deposition) + LOSS

Answer 14

Only acute management - NSAIDS, then colchicine, then steroid injection (no prevention drug here)

Answer 15

reduced bone density

Answer 16

reduction in bone density like osteoporosis but less severe

Answer 17

Steroids Hypothyroid/hyperparathyroid Alcohol + smoking Thin (↓BMI) Testosterone↓ Early menopause (↓oestrogen) Renal /liver failure Erosive + inflammatory disease DMT1 or malabsorption

Answer 18

Fractures (proximal femur (falls), Colles’ forked wrist; fall on outstretched wrist), compression vertebral crush (may cause kyphosis))

Answer 19

DEXA scan (produces T score 1

Answer 20

Bisphosphonates (alendronate, risedronate, inhibit RANK-L signalling —> osteoclast inhibition) mAB denosumab (inhibit RANK-L) HRT - oestrogen, testosterone Oestrogen receptor modulator -raloxifene Recombinant PTH - teraparatide

Answer 21

When trauma or surgery results in direct access for polymicrobial or monomicrobial infection

Answer 22

When infection spreads from adjacent soft tissues and joints - can be poly or monomicrobial - most common in older adults with DM, chronic ulcers, vascular disease, arthroplasties

Answer 23

Infection caused by bacterial seeding from the blood - Most common in long bones in children and vertebrae in adults - monomicrobial

Answer 24

joint inflammation which occurs with disseminated gonococcal infection Sx: fever, arthritis, tenosynovitis, maculopapular rash

Answer 25

defective bone mineralisation resulting from insufficient vitamin D and causing "soft" bones

Answer 26

Hypoparathyroidsim (↑Ca2+ release from bone --> less available for mineral formation) Vitamin D deficiency (malabsorption/reduced intake/poor sunlight) CKD/renal failure (↓active vit D production (25-dihydroxyvitamin D → 1,25-dihydroxyvitamin D)) Liver failure (↓reaction in vit D pathway (cholecalciferol → 25-hydroxyvitamin D) Anticonvulsant drugs (↑CYP450 metabolism of vit D)

Answer 27

Decreased sunlight to skin exposure. Diet. Dark skin. Obesity. Elderly. Medications that may precipitate vitamin D deficiency. Renal or hepatic disease. Malabsorptive syndromes.

Answer 28

inadequate vitamin D leads to a lack of calcium and phosphate in the blood which are required for the constriction of bone low levels result in defective bone mineralisation

Answer 29

Fatigue Bone pain Muscle weakness Muscle aches Pathological or abnormal fractures Difficulty weight bearing Can be asymptomatic

Answer 30

Bloods (hypocalcemia, ↑PTH, ↓serum Ca2+, ↓25(OH) vitamin D BM biopsy - incomplete mineralisation (GS) XR = looser zones (defective mineralisation)

Answer 31

Vitamin D replacement (colecalciferol) + ↑dietary intake (D3 tablets, eggs)

Answer 32

Excessive bone turnover due to uncoordinated excessive activity of both osteoblasts and osteoclasts leading to patchy areas of high and low density bone.

Answer 33

Pain in bone Arthralgia Nerve compression/neural deafness Increased bone density Cardiac failure Skull or vertebral sclerosis

Answer 34

Bone enlargement and deformity Osteoporosis circumscripta (well defined less-dense lesions of bone) Cotton wool appearance of the skull (poorly denied patchy areas of sclerosis and lysis) V-shaped defects in the long bones (osteolytic v-shaped lesions

Answer 35

Bloods (↑ALP, normal Ca2+ and phosphate) X-ray

Answer 36

Bisphosphonates NSAIDs for bone pain VItamin D + Calcium supplements

Answer 37

Osteogenic sarcoma (severe bone cancer) Spinal stenosis and spinal cord compression (spinal canal narrowing which can compress spinal nerves)

Answer 38

Chronic widespread musculoskeletal pain for 3+ months with all other causes ruled out

Answer 39

Prevalence = 0.5-5%

Answer 40

Females Depression Stress 20-60 yrs FHx

Answer 41

The primary pathology in fibromyalgia is in the CNS and involves pain and/or sensory amplification A hallmark of these conditions is diffuse hyperalgesia (increased pain in response to normally painful stimuli) and/or allodynia (pain in response to normally non-painful stimuli)

Answer 42

Chronic pain Diffuse tenderness on exam Fatigue unrelieved by rest Sleep disturbance Mood disturbance Cognitive dysfunction Headaches Numbness /tingling sensations Stiffness Sensitivity to sensory stimuli such as bright lights, odours, noises

Answer 43

Clinical diagnosis - all other possible causes ruled out

Answer 44

Polymyalgia Rheumatica = large cell vasculitis presenting as chronic pain syndrome (↑ESR+CRP is diagnostic and treatment is prednisolone) Myofascial pain syndrome Chronic fatigue syndrome Rheumatoid arthritis Vitamin D deficiency

Answer 45

Education + physiotherapy Antidepressant for severe neuropathic pain (e.g. TCAs; amitriptyline) + CBT

Answer 46

Chronic inflammatory and autoimmune exocrine disorder characterised by diminished lacrimal and salivary gland secretion

Answer 47

Females 40-50 yrs FHx HLA B8/DR3 SLE Rheumatoid arthritis Systemic sclerosis

Answer 48

Dry eyes (keratoconjunctivitis sicca) Mouth (xerostoma) Vagina Fatigue

Answer 49

serology (anti-RO, anti LA, ANA +ve) schirmer test +ve (induce tears and place filter under eyes, tears travel <10mm)

Answer 50

artificial tears, saliva + lubricant for sexual activity *sometimes hydroxychloroquine given

Answer 51

Systemic Lupus Erythematosus is autoimmune systemic inflammation due to hypersensitivity type 3 reaction

Answer 52

25 in 100,000 most commonly seen in females age 20-40 yrs

Answer 53

Female HLA B8/DR2/DR3 C4 A null allele Drugs (e.g. isoniazid, procainamide) Afro-caribbean descent Sun exposure Smoking FHx

Answer 54

Impaired apoptotic debris presented to TH2 → B cell activation → antigen-antibody complexes Antinuclear antibodies cause the immune system to target proteins within the person’s cell nuclei resulting in an inflammatory response and tissue damage

Answer 55

Butterfly rash + photosensitivity Glomerulonephritis Seizures + psychosis Mouth ulcers Fatigue Weight loss

Answer 56

Serositis Anaemia Hair loss Lymphadenopathy and splenomegaly Joint pain, myalgia, Raynaud’s, pyrexia

Answer 57

FBC C3 + C4 levels (decreased) Raised CRP/ESR Immunoglobulins Urinalysis - hematuria +++, proteinuria ++ Renal biopsy (GS) Autoantibodies - anti-dsDNA (specific to SLE, 70% of pts have), ANA (less specific but 85% pts have) + anti-RO, anti-SM, anti-LA

Answer 58

Lifestyle (↓sunlight + stop triggering drugs) Corticosteroids (main) - prednisolone Hydroxychloroquine NSAIDs Azathioprine if severe

Answer 59

CVD, infection, anaemia of chronic disease, pericarditis, pleuritis, interstitial lung disease

Answer 60

Persistent antiphospholipid antibodies resulting in a variety of clinical features characterised by thromboses and pregnancy-related morbidity.

Answer 61

Systemic lupus erythematosus Autoimmune rheumatological disorders (Sjogren syndrome, rheumatoid arthritis, systemic sclerosis) Other autoimmune disease (e.g. hypo-/hyperthyroidism, pernicious anaemia, coeliac disease)

Answer 62

CLOTS Coagulopathy Livedo reticularis Obstetric issues - miscarriages, stillbirth, preeclampsia Thrombocytopenia ↑risk of arteria (stroke, MI)l + venous thrombosis (DVT, PE)

Answer 63

Hx of thrombosis or pregnancy complication plus persistent antibodies as above

Answer 64

Long term warfarin Low molecular weight heparin plus aspirin for pregnant women

Answer 65

autoimmune connective tissue disorder which causes damage to the small arteries, arterioles and capillaries due to excess collagen production which leads to thickening and tightening of the skin

Answer 66

hardening of the skin leading to shiny tight skin without normal skin folds

Answer 67

CREST Calcinosis (Ca deposits in SC tissue) → renal failure Raynaud’s →digit ischemia due to sudden vasospasm, often precipitated by cold, relieved with heat Esophageal dysmotility/strictures → GI symptoms Sclerodactyly (local skin thickening or tightening on fingers/toes) → movement restriction Telangiectasia (spider veins) → risk of pulmonary hypertension

Answer 68

Antibodies - ANA (+ve in most patients but not specific), Anti-centromere Nailfold capillaroscopy DIagnosis is based on classification criteria from ACR and EULAR (2013)

Answer 69

No cure Steroids and immunosuppressants Treat symptoms (e.g. Raynaud - handwarmers, GI Sx - PPI)

Answer 70

Inflammation + necrosis of skeletal muscle, where skin involved = dermatomyositis

Answer 71

can be caused by an underlying malignancy which makes them paraneoplastic syndromes Common associated cancers are lung, breast, ovarian and gastric

Answer 72

female HLA B8/DR3

Answer 73

Symmetrical wasting of shoulders + pelvic girdle (hard to stand from sitting, squat or put hands on head) Muscle pain Dermatomyositis - Gottron Papules (scales on knuckles), Heliotrope (purple eyelid), photosensitive erythematous rash, periorital oedema, subcutaneous calcinosis

Answer 74

Creatinine kinase bloods (CK is raised) Anti-Jo-1 + Anti-Mi-2 antibodies Muscle fibre biopsy necrosis

Answer 75

Bed rest + prednisolone Immunosuppressive drugs

Answer 76

Inflammatory condition which causes pain and stiffness in the shoulders, pelvic girdle and neck

Answer 77

Older age (50+) Female Caucasian heritage Strong association with GCA

Answer 78

Bilateral shoulder pain which can radiate to the elbow Bilateral pelvic girdle pain Worse on movement Interferes with sleep Stiffness for at least 45 mins in the morning

Answer 79

Inflammatory markers (ESR, plasma viscosity and CRP) usually raised FBC, U+Es, LFTS, calcium, etc. to exclude differentials Based on clinical presentation and response to steroids

Answer 80

Osteoarthritis, RA, SLE, myositis, cervical spondylosis

Answer 81

Steroids: initially prednisolone 15mg per day, stopped if no response, can reduce if good response after 4 weeks

Answer 82

infection in the bone and bone marrow typically affects the metaphysis of the long bones

Answer 83

10-100/100,000 p/y Bimodal age distribution (children and older patients)

Answer 84

Most commonly caused by staphylococcus aureus. Caused by salmonella in Sickle Cell patients Can be introduced directly into the bone e.g. via an open fracture Can also travel to the bone through the blood after entering the body via skin or gums etc.

Answer 85

ore common in boys and children under 10 yrs Open bone fracture Orthopaedic surgery Immunocompromised Sickle cell anaemia HIV Tuberculosis IVDU Diabetes Peripheral vascular disease

Answer 86

Chronic = deep-seated, slow growing infection with slow development of symptoms Acute = more rapid onset, particularly acutely unwell child

Answer 87

Refusing to use limb or weight bear Dull bony pain Swelling Tenderness Low grade fever In acute can present with high fever

Answer 88

XR Bloods (raised CRP + ESR, WBCs) Blood culture Bone marrow aspiration or bone biopsy with histology and culture may be necessary MRI (GS)

Answer 89

Soft tissue infection Charcto joint Avascular necrosis of bone Gout Fracture Bursitis Malignancy

Answer 90

Extensive antibiotic therapy (6 wks IV considered minimum) may require surgery for drainage and debridement of the infected bone

Answer 91

Infection within a joint which can affect native or prosthetic joints. Emergency as infection can quickly destroy the joint and cause systemic illness Mortality of around 10%

Answer 92

Staph aureus (RA/diabetes) Streptococci Neisseria gonorrhoea (young/sexually active, MSM) Gram -ve bacilli (extremes of age, systemically unwell, IVDU) - E. coli, pseudomonas Anaerobes Mycobacterium + fungi (immunocompromised)

Answer 93

Prosthetic joints Immunocompromised RA DM Extremes of age IVDU Underlying joint disease Exposure to ticks

Answer 94

Painful, red, swollen, hot joint Stop using joint (children) Fever 90% monoarthritis Most common in knees, hips and shoulders

Answer 95

Bloods (FBC, ESR, CRP), Blood culture Fluid aspirate → culture Plain x-ray, USS

Answer 96

Osteoarthritis Psoriatic arthritis Rheumatoid arthritis Gout

Answer 97

Aspiration Antibiotics (6wk min) - Flucloxacillin + rifampicin often first line - Vancomycin + rifampicin for penicillin allergy, MRSA or prosthetic joint Joint washout rest/splint/physio Analgesia Stop immunosuppression if poss

Answer 98

chronic inflammatory disease which most commonly affect SI joints and the axial skeleton and are associated with the HLA B27 gene

Answer 99

Sausage digit (dactylitis) Psoriasis Inflammatory back pain NSAID -- > good response Enthesitis (heel) Arthritis Crohn's/colitis/↑CRP HLA B27 Eye (uveitis)

Answer 100

Inflammatory arthritis mainly affecting the spine which is part of the seronegative spondyloarthropathy group of conditions linked to the HLA B27 gene. Symptoms develop gradually

Answer 101

FHx Male HLA B27 ERAP1 and IL23R genes

Answer 102

sacroiliac joints and the joints of the vertebral column

Answer 103

Lower back pain and stiffness Sacroiliac pain in buttock region Pain + stiffness worse with rest (e.g. at night and in morning >30mins ) and improves with movement Vertebral fractures (key complication) Can fluctuate with flares of worsening symptoms

Answer 104

Bamboo spine Squaring of vertebral bodies Subchondral sclerosis and erosions Syndesmophytes Ossification Fusion of the facet, sacroiliac and costovertebral joints

Answer 105

Weight loss + fatigue Chest pain Enthesitis (inflammation of where tendons/ligaments insert into bone) Dactylitis (inflammation in finger or toe) Anaemia Anterior uveitis Aortitis Heart block Restrictive lung disease Pulmonary fibrosis Inflammatory bowel disease

Answer 106

Schober’s test (find L5 vertebrae and mark points 10cm above and 5cm below point, ask patient to bend over as far as they can and measure distance between points) - <20cm distance supports diagnosis of AS Inflammatory markers HLA B27 genetic test X-ray of spine and sacrum MRI of spine

Answer 107

Osteoarthritis Diffuse idiopathic skeletal hyperostosis Psoriatic arthritis Reactive arthritis

Answer 108

NSAIDs for pain Steroids in flare ups Anti-TNF meds like etanercept or monoclonal antibodies like infliximab, adalimumab or certolizumab pegol

Answer 109

Inflammatory arthritis associated with psoriasis which is variable in severity

Answer 110

Psoriasis FHx HX of joint or tendon trauma HIV infection

Answer 111

Most severe form - arthritis mutilans which occurs in the phalanxes Osteolysis leads to progressive shortening of the digit Skin then folds as the digit shortens giving “telescopic finger” appearance

Answer 112

Has several patterns of affected joints: Symmetrical polyarthritis (affects wrists, ankles and DIP joints but MCP less commonly affected) Asymmetrical pauciarthritis (affecting mainly digits and feet, pauci- = few) Spondylitic pattern (back stiffness, sacroiliitis, atlanto-axial joint involvement) - more common in men The spine, achilles tendon and atlanto-axial joint can also be involved

Answer 113

Plaques of psoriasis on the skin Nail pitting Onycholysis (separation of the nail from the nail bed) Dactylitis (inflammation of the full finger) Enthesitis (inflammation of the entheses)

Answer 114

Periostitis (results in thickened and irregular outline of bone) Ankylosis (bones join together) Osteolysis Dactylitis (inflammation of whole digit) Pencil-in-cup appearance (bone seems pointed and wears away at surface making it cup-like)

Answer 115

PEST screening (questionnaire re joint pain, swelling, arthritis hx), ESR + CRP, RF, ACCP, lipid profile, uric acid Xray

Answer 116

NSAIDs DMARDS (methotrexate, leflunomide, sulfasalazine) Anti-TNF meds (etanercept, infliximab or adalimumab) Ustekinumab is last line

Answer 117

Synovitis in the joints as a reaction to a recent infective trigger Previously known as Reiter Syndrome

Answer 118

Gastroenteritis (C. jejuni, salmonella, shigella) STIs (chlamydia) HLA B27 gene Male BCG immunotherapy

Answer 119

Acute, warm, swollen, painful joint Reiter’s triad - uveitis, urethritis/balanitis, arthritis + enthesitis Fever Peripheral and axial arthritis Dactylitis Conjunctivitis and iritis Skin lesions including circinate balanitis and keratoderma blennorrhagicum Bilateral conjunctivitis Anterior uveitis Circinate balanitis (dermatitis of head of penis)

Answer 120

NSAIDs Steroid injections into affected joint/s Systemic steroids in multi-joint presentations

Answer 121

form of chronic, inflammatory arthritis associated with the occurrence of an inflammatory bowel disease

Answer 122

peripheral joints and in some cases the spine is also involved

Answer 123

abdo pain, blood in stool, diarrhoea, weight loss

Answer 124

deformity, pain, redness, stiffness, swelling, tenderness, warmth

Answer 125

DMARDs, NSAIDs, TNF-a inhibitors

Answer 126

inflammation of the blood vessels

Answer 127

→ Activated immune cells infiltrate into the vessel wall leading to direct damage and stimulates vascular smooth muscle cell remodelling → Vessel wall infiltration, proliferation and damage causes weakening and occlusion of blood vessel → Leads to ischaemia, infarction, aneurysm formation

Answer 128

GCA Takayasu’s arteritis (asian/japanese women, mainly affects aortic arch otherwise same as GCA)

Answer 129

Polyarteritis nodosa - most associated with hep B and a rash called livedo reticularis (mottled, purplish, lace-like) Buerger’s disease (male smokers 20-40, peripheral skin necrosis - “thromboangitis obliterans” Kawasaki disease (Children, causes cornoary artery aneurysms)

Answer 130

Eosinophilic granulomatosis w/ polyangitis (EGPA) = “Churg strauss disease”, pANCA - mostly associated with lung and skin problems Granulomatosis w/ polyangiitis (GPA) = “Wegener’s disease”, cANCA +ve, a cause of glomerulonephritis (+pulmonary symptoms, saddle shaped nose) Henloch-Schonlein purpura - IgA vasculitis, a DDx for IgA nephropathy → both present as IgA deposition in GBM on kidney biopsy but HSP has purpuric rash on shins + affects other organs (joints, abdo, renal)

Answer 131

Systemic vasculitis of the medium and large arteries, temporarily presents with symptoms affecting the temporal arteries. Also known as temporal arteritis

Answer 132

Cranial GCA Large vessel GCA

Answer 133

Primary: Idiopathic autoimmune process Secondary: Drugs, infection, other autoimmune disease

Answer 134

Age 50+ yrs Female Genetic factors Smoking Atherosclerosis Environmental factors

Answer 135

Inflammation of the vessel lining leading to intimal expansion and hyperplasia which narrows and can occlude the vessel lumen, ultimately causing tissue ischaemia.

Answer 136

New localised headache (abrupt, temporal) Visual symptoms (blurring, amaurosis fugax (veil over vision), diplopia (double vision), photopsia (flashing lights), visual loss) Irreversible painless complete sight loss can occur rapidly Scalp tenderness Jaw and tongue claudication

Answer 137

Fatigue Weight loss Loss of appetite Peripheral oedema Polymyalgia Limb claudication

Answer 138

Clinical presentation, bloods (anaemia of chronic disease, thrombocytosis, raised CRP/ESR) Temporal artery USS/biopsy PET-CT and axillary USS (for extracranial disease)

Answer 139

Don’t - don’t stop taking steroids abruptly (risk of adrenal crisis) S - sick day rules T - treatment card O - osteoporosis prevention with bisphosphonates and supplemental calcium and vitamin D P - proton pump inhibitor for gastric protection

Answer 140

Corticosteroid treatment immediately (prednisolone) Methotrexate and or tocilizumab (use when high risk of corticosteroid toxicity)

Answer 141

Complications: stokes, blindness (stroke affecting retinal vessels, optic nerve)

Answer 142

Rare condition where the small to medium-size blood vessels become inflamed mainly affecting the ears, sinuses, kidneys and lungs)

Answer 143

genetic predisposition Infective\ Environmental White ethnicity

Answer 144

upper and lower respiratory tract involvement (cough, wheeze, haemoptysis) Renal involvement (rapidly progressing glomerulonephritis) Constitutional symptoms Ocular manifestations Nose bleeds

Answer 145

Urinalysis + microscopy CT chest ANCA FBC, serum creatinine, ESR, LFTs, serum calcium

Answer 146

Eosinophilic granulomatosis with polyangiitis Microscopic polyangiitis Classic polyarteritis nodosa

Answer 147

High dose corticosteroid Immunosuppressant Supportive care

Answer 148

Rare medium vessel vasculitis which affects the skin, GI tract, kidneys and heart.

Answer 149

40-60 yrs Hep B infection Hairy cell leukaemia Hep C infection male

Answer 150

In Hep B-related PAN it is thought that the replicating virus causes direct injury to the vessel by replicating virus or by the deposition of immune complexes. Deposition of immune complexes leads to activation of the complement cascade, which results in an inflammatory response and subsequent damage to the vessel wall.

Answer 151

Mononeuritis multiplex (ischaemia of vasa nervosum) GI bleeds (mesenteric artery) CKD/AKI (renal artery) Skin SC nodules + haemorrhage

Answer 152

Livedo reticularis (mottled, purplish, lace-like rash)

Answer 153

CRP, ESR, FBC, complement, serum creatinine, MS urine analysis CT angiogram ⇒ “beads on string” (microaneurysms) Biopsy (e.g. kidney) → necrotising vasculitis

Answer 154

Granulomatosis with polyangiitis Microscopic polyangiitis Churg-Strauss syndrome GCA

Answer 155

Corticosteroids Control hypertension → ACEis Hep B treatment after corticosteroids

Answer 156

Autosomal dominant condition affecting the gene responsible for creating fibrillin

Answer 157

3 in 10,000

Answer 158

Mutations in the fibrillin-1 gene result in the production of an abnormal fibrillin protein, leading to abnormalities in the mechanical stability and elastic properties of connective tissue

Answer 159

Tall stature Long neck Long limbs Long fingers (arachynodactyly) High arch palate Hypermobility Pectus carinatum or pectus excavatum Downward sloping palpable fissures

Answer 160

aortic regurgitation murmur, AAA, aortic dissection, mitral/aortic valve prolapse (with regurgitation)

Answer 161

Clinical presentation Genetic testing (FBN-1 mutation)

Answer 162

Unrelated aortic dissection Bicuspid aortic valve Ehlers-Danlos syndrome Erdheim’s deformity

Answer 163

Aim is to reduce ris kof cardiac complications B-blockers, A-II receptor antagonists Physiotherapy

Answer 164

Umbrella term encompassing a group of genetic conditions with cause collagen defects, resulting in hypermobility of the patient's joints and abnormalities in connective tissue such as the skin, bones, blood vessels and organs.

Answer 165

Hypermobile (most common, least severe) Classical Vascular (most dangerous) Kyphoscoliotic

Answer 166

most common type seen in practice and the least sever type with key features if joint hypermobility and soft, stretchy skin

Answer 167

Caused by 1 or more genetic aberrations affecting genes and encoding for, or modifying, connective tissue proteins, such as collagen and matrix proteins.

Answer 168

Genetic aberration in genes encoding connective tissue proteins gives rise to a biochemical abnormality which in turn results in a biomechanical disorder with 3 effects: Ligament laxity and resulting hypermobility + flexibility Inherent fragility of connective tissues → increased injury risk Impaired healing, often delayed and may be incomplete

Answer 169

Joint hypermobility Joint pain Joint dislocations, for example the shoulders or hips Cardiovascular complications (mitral regurgitation, AAA, Aortic dissection) Soft stretchy skin Easy bruising Poor wound healing Bleeding Headaches GORD Abdo pain Menorrhagia + dysmenorrhoea Urinary incontinence

Answer 170

Collagen mutations Clinical diagnosis, Beighton score

Answer 171

No cure, management focused on maintaining healthy joints, monitoring for complications and minimising symptoms Physiotherapy/Occupational therapy Painkillers Psychology

Answer 172

Beighton score - used to assess hypermobility, 1 point is scored for each side of the body, with a maximum score of 9: Palms flat on floor with straight legs Elbows hyperextend Knees hyperextend Thumb can bend to touch the forearm Little finger hyperextends past 90 degrees

Answer 173

elderly (e.g. myeloma), neuropathic pain (spinal cord compression)

Answer 174

degeneration of intervertebral discs which is initially asymptomatic and progressively worsens

Answer 175

L4/L5 or L5/S1

Answer 176

Osteosarcoma Ewing’s sarcoma Fibrosarcoma Chondrosarcoma

Answer 177

BLT KP Breast (osteolytic) Lung (osteolytic) Prostate (osteosclerotic) Thyroid RCC + Myeloma can cause bone pain

Answer 178

Spindle cell neoplasms that produce osteoid.

Answer 179

Intramedullary (high grade) Parosteal (low grade0 Periosteal (high grade) Telangiectatic

Answer 180

Usually presents in adolescents and younger adults aged 10-20 yrs Most common non-haematological primary malignant neoplasm of bone

Answer 181

10-20yrs Paget’s disease Radiotherapy Rothmund-Thomson syndrome (rare genetic disease) Familial retinoblastoma syndrome Li-Fraumeni syndrome (familial cancer syndrome resulting from germline mutations in the p53 tumour suppressor gene) Fibrous dysplasia Chemotherapy male

Answer 182

femur, tibia and humerus

Answer 183

Persistent bone pain which is worse at night Bone swelling Palpable mass Restricted joint movements

Answer 184

Poorly defined lesion in bone with destruction of normal bone and a “fluffy” appearance “Sun-burst “ appearance due to periosteal reaction

Answer 185

Blood tests show raised ALP Direct access x-ray (urgent <48hrs) CT, MRI, bone, PET scans + bone biopsy for staging and better lesion definition

Answer 186

Ewing’s sarcoma Chondrosarcoma Malignant fibrous histiocytoma

Answer 187

Fatal if untreated, poor prognosis Initial treatment with multi-agent chemotherapy pre-op 8-12 weeks - aims to kill tumour cells, reduce further spread, treat micro-metastases Limb salvage surgery + adjuvant chemotherapy

Answer 188

very rare type of bone and soft tissue cancer most often affecting children and young adults.

Answer 189

Exact cause not fully understood Not inherited Most often fusion of genetic material between chromosomes 11 and 22 seen

Answer 190

10-20 yrs Male Most common in caucasians

Answer 191

neural crest cells

Answer 192

Classically a diaphyseal lesion (femur (mc), pelvis, distal tibia, proximal humerus) Destructive lytic lesion (periosteum may be lifted off in multiple layers giving an onion skin appearance) Pain around tumour site Swelling and/or redness around tumour site Fever Weight loss Anorexia Fatigue Paralysis and/or incontinence (if tumour is in spinal region) Symptoms related to nerve compression from the tumour e.g. numbness, tingling, paralysis

Answer 193

Bloods, XR Bone biopsy (monotonous blue cell tumour, indistinct cell borders, no matrix production by the tumour cells) Bone, MRI, CT, PET scans , tumour biopsy, bone marrow aspirate/biopsy

Answer 194

Surgical removal chemotherapy / radiotherapy Amputation

Answer 195

Cancer originating in the chondrocytes.

Answer 196

Risk increases with age up to 70yrs Enchondromas Multiple hereditary exostoses (overgrowths of cartilage and bone which can develop into chondrosarcoma) Ollier disease (clusters of enchondromas affecting hands and feet) Maffucci syndrome (cause many enchondromas affecting hands and feet + benign tumours made up of blood vessels) Li-Fraumeni syndrome

Answer 197

Persistent bone pain Lump on bone Weakness and limited movement in limb or joint Local swelling Joint stiffness

Answer 198

Bloods, X-rays CT, bone, PET, MRI scans, bone biopsy

Answer 199

Surgery to remove tumour Radiotherapy / chemotherapy Amputation

Answer 200

Trauma (osteoporosis) Unexplained weight loss (cancer) Neurological symptoms (cauda equina syndrome) Age >50 or <20 (secondary bone cancer, ankylosing spondylitis, herniated disc) Fever (infection) IV drugs use (infection) Steroid use (infection) History of cancer (metastasis to spine)

Answer 201

avoid smoking gentle skin stretching regular emollients avoiding cold --> Raynaud's physiotherapy occupational therapy