MSK Flashcards
1
Q
Define osteoarthritis
A
progressive synovial joint damage resulting in structural changes, pain and reduced function
* It is the ‘wear and tear’ of joints
* Not inflammatory, it is degenerative
2
Q
Give 4 examples of dietary purines
A
- Alcohol
- Shellfish & sardines
- Red meat
- Organ meat
- Fructose
3
Q
RF of osteoarthritis
A
- Age (>65)
- Female sex (increased after menopause)
- Obesity
- Joint injury or trauma
4
Q
Pathophysiology of osteoarthritis
A
cartilage is lost (due to chondrocyte secretions) and chondroblasts are unable to replace and repair the lost cartilage, this leads to abnormal bone repair
5
Q
Give 5 areas that are most affected by osteoarthritis
A
Knees
Hips
Sacro-iliac joint
Cervical spine
Wrist
6
Q
Signs of osteoarthritis
A
- Heberden’s nodes: swelling in distal interphalangeal joint
- Bouchard’s nodes: swelling in proximal interphalangeal joint
- Fixed flexion deformity of carpometacarpal (base of thumb)
- Mucoid cysts: painful cysts found on dorsum of finger
7
Q
Symptoms of osteoarthritis
A
- Joint pain which is worse with activity
- Mechanical locking
- Joint tenderness and stiffness
8
Q
When are investigation not required for osteoarthritis
A
Not needed if presentation is typical:
- Over 45 years of age
- Typical activity related pain
- No morning stiffness (or morning stiffness <30 minutes)
9
Q
Describe the 1st line investigation of osteoarthritis
A
X-ray can be used to check severity and confirm diagnosis (LOSS)
- Loss of joint space
- Osteophytes (bony overgrowth)
- Subarticular sclerosis (end of bone at point of articulation is thickened)
- Subchondral cysts (fluid filled holes around the articulation)
10
Q
DDx of osteoarthritis
A
- Rheumatoid arthritis
- Chronic tophaceous gout
- Psoriatic arthritis
11
Q
What other investigations might be done for osteoarthritis
A
- MRI - cartilage loss, BM lesions
- CT - osteophytes, bone/ cartilage loss
- Ultrasound: best for soft tissues - effusion, synovial hypertrophy
12
Q
Non-medical management of osteoarthritis
A
- Patient education
- Weight loss
- Low impact exercise
- Heat and cold packs at site of pain
- Physiotherapy
- Walking stick
13
Q
Pharmacological management of osteoarthritis
A
- 1st line - Topical analgesia (diclofenac)
- 2nd line - oral paracetamol + topical analgesia (NSAIDs)
- Oral NSAIDs + PPi (omeprazole)
- intra-articular steroid injections (methylprednisolone acetate)
14
Q
What is the most affected type of cartilage in osteoarthritis
A
Articular cartilage
15
Q
Surgical management of osteoarthritis
A
- Arthroscopy - loose bodies
- Arthroplasty - joint replacement
16
Q
What is rheumatoid arthritis
A
- Autoimmune condition causing chronic and systemic inflammation
- Symmetrical polyarthritis as it affects multiple joints
17
Q
Explain the pathophysiology of RA
A
- Arginine to citrulline mutation in T2 collagen = cyclic citrullinated peptide Ab (anti-CCP/ ACPA)
- Cytokines cause synovial cells to proliferate which creates pannus (mass)
- Pannus destroy subchondral bone and articular cartilage
- Rheumatoid factor causes systemic inflammation
18
Q
RF of RA
A
- Women 40-60
- Smoking
- Genetics: HLA DR1/ HLA DR4
- FHx
19
Q
Signs of RA
A
- Symmetrical polyarthritis lasting >6w - hot, swollen and tender. mc in MCP, PIP and MTP
- Boutonniere deformity - PIP flexion & DIP hyperextension
- Swan-neck deformity: PIP hyperextension and DIP flexion
- Z-thumb deformity: hyperextension of the thumb IP joint with flexion of the MCP joint
- Popliteal (Baker’s) cysts - synovial sac bulges posteriorly to the knee
- Ulnar deviation
20
Q
Sx of RA
A
- Morning stiffness - >30 mins and eases throughout day
- Low-grade fever
- myalgia (muscle aches)
- Joint pain and swelling
- Fatigue
21
Q
Investigations of RA
A
- Bloods: raised ESR/CRP - used to monitor progression
- Anti-CCP - +ve in 70% of patients
- Rheumatoid factor - +ve in 60-70%
- XRay:
- Loss of joint space, Eroded bone, soft tissue swelling, Osteopenia (soft bones)
22
Q
Which joint is typically never affected by RA
A
Distal interphalangeal joints
23
Q
Treatment of RA
A
- Disease modifying anti-rheumatic drug (DMARD) monotherapy - hydroxychloroquine, leflunomide, methotrexate, sulfasalazine
- NSAIDs
- Biologics:
- TNF-a inhibitor (IV infliximab, SC adalimumab)
- B cell inhibitor (rituximab)
- Steroids for flare ups
24
Q
Explain the MOA of methotrexate
A
Works by interfering with the metabolism of folate and suppressing certain components of the immune system
25
Why is methotrexate contraindicated in pregnant women
It is teratogenic (harmful to pregnancy) and needs to be avoided prior to conception in mothers and fathers
26
SE of Sulfasalazine
* Temporary male infertility (reduced sperm count)
* Bone marrow suppression
27
SE of hydroxychloroquine
Nightmares and reduced visual acuity
28
SE of anti TNF meds
Reactivation of dormant TB or hepatitis B
29
SE of rituximab
Night sweats and thrombocytopenia
30
How does rheumatoid factor cause systemic inflammation
* It is an autoantibody that targets the Fc portion of the IgG antibody
* This causes activation of the immune system against the patients own IgG causing systemic inflammation
* Rheumatoid factor is most often IgM
31
Extra-articular manifestations of RA
* Sjogrens
* Glomerulonephritis
* heart - MI and pericarditis
* Episcleritis - inflammation of the episcleral tissues
* Keratoconjunctivitis sicca - dry eyes (mc)
* Rheumatoid nodules on skin
* Felty's syndrome
32
What is Felty's syndrome
Triad of
- Splenomegaly
- Neutropenia
- Rheumatoid arthritis
33
What is gout
* Inflammatory arthritis associated with chronically high blood uric acid levels
* Monosodium urate crystals are deposited in the joint
34
6 RFs of Gout
* Male
* Increasing age (>40)
* Aspirin
* High purine diet (red meat, seafood)
* Thiazide and loop Diuretics
* Alcohol (beer)
35
Explain the pathophysiology of gout
Purines --> uric acid ------> monosodium urate
* High uric acid + CKD = impaired excretion = high monosodium urate
* Xanthine oxidase catalyses purine to uric acid
36
Presentation of gout
* Typically monoarticular
* Gouty tophi - nodular masses of urate crystals form under the skin
* Red, tender, hot, and swollen joint
* Malaise
37
Which joints are commonly affected in gout
* 1st metatarsophalangeal joint (big toe) - mc
* ankle, wrist, knee and small joints of the hand
38
Where do gouty tophi usually affect
* fingers - (DIP)
* ears
* elbows
39
3 Investigation of gout
* Joint aspiration (GS) - strongly negatively birefringent needle shaped crystals under polarised light microscopy
* Dual energy CT/ US: if aspiration is CI - erosions, tophi, double contour line
* Joint XR - periarticular erosions (may have an overhanging edge/ punched-out appearance
40
What would bacterial growth in a joint aspiration indicate
Septic arthritis
41
How is an acute flare up of gout managed
* 1st line - NSAIDs
* 2nd - Colchicine (if NSAIDs CI)
* 3rd - Intra-articular corticosteroids
* General: ice, rest, hydration
42
What is a common side effect of colchicine
Dose dependent diarrhoea
43
Describe the prevention of gout
* Diet - low purines, avoid alcohol, lose weight
* Xanthine oxidase inhibitor:
- Allopurinol - 1st line
- Febuxostat - 2nd line
44
Describe when xanthine oxidase inhibitors should be initiated for gout
* given at least 2 weeks after an acute attack
* if patient is already on these meds, they should be continued through the flare attack
45
DDx of gout
* Septic arthritis
* Trauma
* Pseudogout
* RA
46
What is pseudogout
Inflammatory arthritis caused by deposition of calcium pyrophosphate crystals in the synovium
47
RFs of pseudogout
* Elderly females (60+)
* Hyperparathyroidism
* Haemochromatosis
* Hypomagnesaemia
* Hypophosphatemia
* Previous joint injury
48
Presentation of pseudogout
* Swelling, warmth, redness and tenderness in 1 or more joints
* Joint stiffness
* Joint pain in shoulders, wrists or metacarpophalangeal joints
49
Investigation of pseudogout
* Joint aspiration - positively birefringent rhomboid-shaped crystals under polarised microscopy
* Serum PTH, ALP, Mg and iron studies
* Xray:
• Chondrocalcinosis - seen as linear calcifications of the articular cartilage and meniscus in the knee
• changes similar to osteoarthritis (LOSS)
50
Treatment of pseudogout
* NSAIDs
* Colchicine
* Corticosteroids injection (1st line if <4 joint affected)
* Joint aspiration - relieves pain
* Joint replacement if chronic and recurrent
51
What are seronegative spondyloarthropathies
Asymmetrical seronegative (RF -ve) inflammatory arthritis that is associated with HLA-B27
* mc affects axial skeleton and big joints
52
State 5 examples of spondyloarthropathies
* Ankylosing spondylitis
* Psoriatic arthritis
* Reactive arthritis
* IBD associated arthritis (Enteric)
* Acute anterior uveitis (iritis)
53
Features of spondyloarthropathies
SPINEACHE:
* Sausage digit (dactylitis)
* Psoriasis
* Inflammatory back pain
* NSAIDs good response
* Enthesitis (heel - plantar fasciitis)
* Arthritis
* Chron's/Colitis/ elevated CRP
* HLA B27
* Eye (uveitis)
54
What is ankylosing spondylitis (AS)
Inflammatory arthritis that causes stiffening and immobility of joint due to fusion of bones
55
What joints are most commonly affected by AS
* spine
* ribcage
* sacroiliac
56
RFs of ankylosing spondylitis
* HLA B27
* FHx
* Late teens/20s
* Male?
57
Explain the pathophysiology of AS
Syndesmophytes (new vertical abnormal bony growths) replace spinal bone damaged by inflammation and make the spine less mobile
58
Describe the presentation of ankylosing spondylitis
* stiffness of joints
* Lower back pain that is worse in the morning/ at night and relieved with exercise
* Enthesitis
* Dactylitis
* Schober's test - decreased lumbar flexion (<20cm)
* Kyphosis - curvature of spine
Typically present > 3m
59
3 Investigations of ankylosing spondylitis
* MRI - can show sacroiliitis and bone marrow oedema
* Pelvic and spine XRay
• Bamboo spine (fusion of the vertebral joints) - last sign
• Squaring of vertebral bodies
• Sacroiliitis (sclerosis, erosions, loss of joint space, fusion) - presents early
• Syndesmophytes
* Elevated CRP and ESR
60
Treatment for ankylosing spondylitis
* NSAIDs - naproxen
* Physio
* Intra-articular corticosteroid injection
* Anti TNF - e.g. Etanercept or Infliximab (mAb)
61
What predicts arthritis in patients with psoriasis
Nail involvement
62
What are the 5 patterns of disease in psoriatic arthritis
* DIPJ only
* Symmetrical small joint (RA like)
* Large joint oligoarthritis
* Axial
* Arthritis mutilans
63
Sx of psoriatic arthritis
* Inflamed DIP joints
* Dactylitis
* Enthesitis
* Psoriasis - behind ears, scalp, under nails, onycholysis
64
What is arthritis mutilans
* Severe form of psoriatic arthritis
* Osteolysis of bone = shortening = fingers telescope into themselves
* Pencil in cup deformity
65
Describe the Xray changes in psoriatic arthritis
* Periostitis
* Ankylosis - bones fuse together
* Osteolysis
* Dactylitis
* Pencil-in-cup appearance
66
Describe the screening tool for psoriatic arthritis
Psoriasis epidemiological screening tool (PEST)
Asking about:
- Joint pain
- Swelling
- Arthritis
- Nail pitting
67
Treatment of psoriatic arthritis
* DMARDs - methotrexate, sulfasalazine
* NSAIDs - naproxen
* TNF-a inhibitor or mAb
68
Define reactive arthritis
Sterile inflammation of synovial membranes, tendons and fascia triggered by an infection at a distant site
69
Give 2 causes (infective triggers) of reactive arthritis
* Gut associated infections - e.g. salmonella, campylobacter, shigella and yersinia
* STI - e.g. chlamydia trachomatis (mc) ,
70
What is the classic triad of reactive arthritis
* Conjunctivitis
* Sterile urethritis
* Arthritis - 2 days - 2w post infection
(Can't see, cant pee, cant climb a tree)
71
What other signs are seen in reactive arthritis (exc triad)
* Enthesitis
* Keratoderma blenorrhagica - painless, red raised plaques and pustules confined to palms and soles
* Circinate balanitis - dermatitis of head of penis
* Hot swollen joint
72
DDx of reactive arthritis
* Gout
* Septic arthritis
73
Investigation of reactive arthritis
* Aspirate joint - exclude infection/ crystals
* Raised ESR and CRP
* Urethral swab, stool culture
* Sexual health review
74
Treatment of reactive arthritis
* NSAIDs
* Corticosteroids - treat skin involvement
* Recurrent - DMARDs (sulfasalazine)
75
What is enteric arthritis
Arthritis secondary to IBD (chron's & UC)
76
Clinical manifestation of enteric arthritis
* Asymmetrical lower limb arthritis
* Episodic peripheral synovitis (up to 20%)
* erythema nodosum (Chron's)
* pyoderma gangrenosum (UC)
* unilateral sacroiliitis
77
Define osteoporosis
a systemic skeletal disease characterised by low bone density
and microarchitectural deterioration of bone tissue, with a
consequent increase in bone fragility and susceptibility to
fracture
78
Describe the gender differences in osteoporosis
* Prevalence higher in women and increases post menopause (>50)
* Lower oestrogen levels
* High bone turnover (resorption > formation)
79
Give 3 causes of osteoporosis
* Inflammatory disease
* Endocrine disease - cushing's, primary hyperPT, hyperthyroid
* Meds - glucocorticoids
80
RFs of osteoporosis
SHATTERED:
* Steroids - glucocorticoid
* Hyperthyroid, hyperparathyroidism
* Alcohol and smoking
* Thin - low BMI (<18.5 kg/m²)
* Testosterone decrease
* Early menopause
* Renal/liver failure
* Erosive/ inflammatory bone disease (e.g. RA)
* Dietary - T1DM, malabsorption
81
Mc fracture sites in osteoporosis
Asymptomatic apart from fractures
* Proximal femur
* Colles' fracture - Fracture of distal radius with posterior displacement of distal fragment
* Compression vertebral crush
82
Describe the diagnosis of osteoporosis
* GS: DEXA (dual energy X-ray absorptiometry) - measure bone density and yield T and Z score
* FRAX score - predicts risk of fragility fracture over next 10y
* normal Ca, phosphate, ALP and PTH
83
Describe the T score
T scores represent the number of standard deviations below the mean for a healthy gender-matched young adult their bone density is
* > -1 = normal
* -1 to -2.5 = osteopenia
* < -2.5 = osteoporosis
* < -2.5 +fracture = severe osteoporosis
84
What is osteopenia
Less severe reduction in bone density
85
How is osteoporosis treated
* 1st line: Bisphosphonates - reduce osteoclast activity and bone turnover
* Denosumab - mAb to RANK ligand
* Hormone replacement therapy
* Teriparatide (recombinant PTH) - increase osteoblast activity and bone formation
* Selective oestrogen receptor modulator - Raloxifene
* Ca and Vit D supplements
86
Give 3 examples of bisphosphonates used in osteoporosis treatment
* 1st line - oral Alendronate or Risedronate
* Oral CI = IV zoledronic acid (once yearly)
87
How should alendronate be taken
* first thing in the morning
* On an empty stomach
* Remain upright 30 minutes after taking
88
Give 4 properties that contribute to bone strength
* Bone mineral density
* Size - short and fat > long and thin
* Bone turnover
* Mineralisation
89
Define osteomyelitis
* Inflammation of bone/bone marrow usually caused by bacterial infection
90
Epidemiology of osteomyelitis
* Acute haematogenous osteomyelitis - mc in children
* Contiguous osteomyelitis (infection secondary to direct trauma) - mc in adults
91
5 RFs of osteomyelitis
* DM
* IV drug use
* Penetrating injury
* Immunosuppression and HIV
* Upper resp infection
92
What bacteria commonly cause osteomyelitis
* Staph. aureus - mc
* Salmonella in sickle cell anaemia
* Pseudomonas aeruginosa (IVDU)
* Aerobic gram -ve bacilli
93
Describe the histopathology of osteomyelitis
Acute changes:
* Inflammatory cells, oedema, vascular congestion
Chronic changes:
* Neutrophil exudates,
* Necrotic bone - sequestrum
* New bone formation around sequestrum - involucrum
94
Presentation of osteomyelitis
* Dull pain at onset of OM that may be aggravated by movement
* Fever, rigor, malaise
* Tenderness, warmth, erythema and swelling
* Deep/ large ulcers
95
Describe the diagnosis of osteomyelitis
* FBC - high WCC = acute, normal = chronic
* ESR and CRP usually raised
* Blood cultures - +ve for causative organism
* X-rays of affected areas
* MRI - BM oedema
* BM biopsy - may show other pathology e.g. tumour or granulomatous disease
96
Describe the potential signs of osteomyelitis on an X-ray
* Osteopenia
* Periosteal reaction - changes to surface of bone
* Bone destruction and cortical erosion
* Sequestrum
97
Treatment of osteomyelitis
6w IV Ab therapy 6w
• flucloxacillin
• Vancomycin (adults) or clindamycin (kids) - Penicillin allergy or MRSA
* Surgical debridement - failure to respond to Ab
98
How is TB osteomyelitis ruled out
BM biopsy
* +ve for caseating granuloma
99
What is septic arthritis
Infection within a joint which occurs either by direct inoculation or haematogenous spread
100
6 organisms that cause septic arthritis
* Staph Aureus - mc
* Staph epidermis - prosthetics
* Group A Strep - pyogenes
* Neisseria gonorrhoea
* E.coli & Pseudomonas Aeruginosa - IVDU, elderly
101
RFs of septic arthritis
* Prosthetic joint
* Immunocompromised
* IVDU
* Trauma
* Diabetes
* RA
102
Presentation of septic arthritis
* 90% are monoarticular (don't rule out polyarticular)
* Hot, red, swollen, painful joint
* Fever
* Mc in knee > hip > shoulder
103
Describe the diagnosis of septic arthritis
* GS: Joint aspiration with MC+S and polarised light microscopy - exclude DDx and ID causative organism
* Elevated ESR/CRP
* Blood culture
104
DDx of septic arthritis
* Gout and pseudogout
* Reactive arthritis
105
Treatment of septic arthritis
IV Ab:
- flucloxacillin
- Vancomycin (MRSA)
- Ceftriaxone (gonococcal)
* Stop immunosuppression (methotrexate, Anti-TNF)
* Analgesia
* Joint aspiration (drainage)
106
Define vasculitis
Inflammation of blood vessels
107
Give examples of small vessel vasculitis
* IgA vasculitis (Henoch-Schonlein purpura)
* Eosinophilic Granulomatosis with Polyangiitis (Churgg-Strauss)
* Granulomatosis with polyangiitis
108
Give examples of medium vessel vasculitis
* Polyarteritis nodosa
* Kawasaki Disease - almost exclusively in children
109
Give examples of large vessel vasculitis
* Giant cell arteritis
* Takayasu’s arteritis
110
General presentation of vasculitis
* Purpura - purple blanching spots
* Joint and muscle pain
* Fever
* Uveitis
* Renal impairment
111
Who is at higher risk of giant cell arteritis (GCA)
Caucasian females that are 50+
112
Presentation of GCA
* Unilateral temple headache
* intermittent limb and jaw claudication
* Painless loss of vision, diplopia
* Scalp tenderness
* Myalgia
113
Which artery is mainly affected by GCA
primarily affects branches of the external carotid artery
* Temporal
* Ophthalmic
* Facial
114
Describe the diagnosis of GCA
* Raised ESR and CRP
* GS: Temporal artery biopsy - granulomatous inflammation
* Vascular US - wall thickening, stenosis, non-compressible halo sign
* Anaemia of chronic disease (normocytic)
115
Management of GCA
* High dose oral prednisolone - reduce risk of sight loss
* Aspirin 75mg
* IV methylprednisolone if visual changes
116
What medication may be prescribed for glucocorticoid-induced adverse events
* PPi - gastric disturbances
* Bisphosphonates, Ca, Vit D - prevent bone loss
117
Complications of GCA
* Sudden painless irreversible vision loss in one eye
* Stroke
* Aortic aneurysm
118
What is polymyalgia rheumatica
* Inflammatory condition causing stiffness in shoulders, pelvic girdle and neck
* Strong association with GCA
119
4 RFs of polyarteritis nodosa
* Hep B (mc)
* Hep C
* 40-60 y/o
* Male
120
Which vessels do polyarteritis nodosa typically affect
vessels in the skin, GIT, kidneys and heart
121
Sx of polyarteritis nodosa
* mononeuritis multiplex
* Paraesthesia
* Abdo pain, myalgia and arthralgia
* High diastolic bp
122
Investigation of polyarteritis nodosa
* Raised ESR and CRP
* FBC -normocytic anaemia
* HBV serology - HBsAg +ve
* Biopsy - transmural necrotising inflammation
* Conventional digital angiography - microaneurysms
123
Treatment of polyarteritis nodosa
* HBV -ve: Oral prednisolone
* HBV +ve: corticosteroids, plasma exchange and antiviral agent
* ACEi - HTN
124
What 2 organs does granulomatosis with polyangiitis (Wegener's) typically affect
* Lungs - Respiratory tract
* Kidneys
125
Presentation of granulomatosis with polyangiitis
* Saddle shaped nose
* Nose bleeds (epistaxis)
* Crusty nasal secretions
* Heat loss and sinusitis
* Cough, wheeze
126
Investigation of granulomatosis with polyangiitis
* circulating Anti-neutrophil cytoplasmic Ab - +ve cANCA
* FBC - anaemia
* CT chest - lung nodules
* Urinalysis - may show haematuria, proteinuria
127
Treatment of granulomatosis with polyangiitis
* High dose corticosteroid - IV methylprednisolone then oral prednisolone
* Rituximab (immunosuppressant)
* Remission: Prednisolone + azathioprine
128
Define fibromyalgia
Chronic pain syndrome characterised by presence of widespread body pain
129
RFs of fibromyalgia
* Female
* 20-60y
* FHx
* Low SES
130
Presentation of fibromyalgia
* Fatigue
* Sleep disturbances
* Chronic widespread pain
* Tenderness
* Morning stiffness
* Headaches
131
How do pain responses differ in fibromyalgia
* Pain in response to non-painful stimuli
* Exaggerated perception of pain to mildly painful stimuli
132
Describe the diagnosis of fibromyalgia
Clinical diagnosis:
* Chronic widespread body pain for over 3 months
* Tenderness - 11/18 tender point sites (front/back, left/right, above/ below diaphragm)
* Widespread pain in combo with fatigue, sleep difficulties etc
* Other investigations likely to be normal (exclusion)
133
Treatment for fibromyalgia
* Physio and regular exercise
* Tricyclic antidepressants - amitriptyline
* Pregabalin - help with sleep issues
* Naproxen
* CBT
134
Define systemic lupus erythematosus (SLE)
* Chronic systemic autoimmune condition caused by a T3 hypersensitivity reaction
135
RFs of SLE
* Female (12x mc)
* Middle aged (20-40)
* Afro-Caribbean
* HLA-B8/ -DR2/ -DR3
* Drugs - procainamide, sulfasalazine
136
Explain the pathophysiology of SLE
* Reduced clearance of apoptotic bodies and cellular debris (nuclear antigen)
* Immune system doesn't recognise debris as self and attacks cell material
* Forms nuclear antigen-antibody complexes
137
Presentation of SLE (8)
* Malar (butterfly) rash that is photosensitive
* Mouth ulcers
* Non-scarring Alopecia
* Fatigue, weight loss and fever
* Arthralgia/ arthritis
* Lymphadenopathy
* Raynaud's phenomenon - colour changes of digits induced by cold/stress
* Discoid rash - red oval patches that lead to scaring
138
Investigation of SLE
* Raised ESR and CRP
* FBC - anaemia, leukopenia
* U+E - raised urea and creatinine (renal)
* Urine dipstick - haematuria, proteinuria (nephritic)
* Serology:
• Antinuclear Ab (ANA, IgG) +ve - 99% sensitive
• Anti-dsDNA Abs - disease monitoring, specific
• Anti-Smith Ab - specific
139
Treatment of SLE
* Lifestyle - sun protection, smoking cessation
* 1st - Hydroxychloroquine
* Oral prednisolone
* NSAIDs - naproxen
* Azathioprine or methotrexate if unresponsive to above
140
Define antiphospholipid syndrome (APS)
* associated with antiphospholipid antibodies
* characterised by thromboses and reccurent miscarriages
141
Explain the pathophysiology of APS
Antiphospholipid Abs make the blood more prone to clotting (thrombosis)
142
Presentation of APS
CLOTs
* Coagulopathy
* Liver reticularis - purple discolouration of skin (lace-like)
* Obstetric issues - miscarriage
* Thrombocytopenia (low platelets)
143
Describe the diagnosis of APS
* Anticardiolipin Ab of IgG/M
* Lupus anticoagulant
• Detects changes in the ability of the blood to clot
* Anti-B2-glycoprotein 1 Ab of IgG/M
* Presence of ANA and dsDNA Ab
Persistently elevated on 2 occasions 12w apart
144
Treatment of APS
* LMWH & Warfarin - minimise thrombosis
* Pregnancy - Oral aspirin and SC LMWH (dalteparin/ enoxaparin)
145
What is sjogren's syndrome
Systemic autoimmune dysfunction of the exocrine glands
146
RFs of Sjogren's
* Female
* 20-30 and >50
* HLA-B8/-DR3/-DQ2
* SLE
* RA
147
Presentation of Sjogren's
* Dry eyes - itch, burning
* Dry mouth - dysphagia
* Dry vagina
* Vasculitis
* Dental caries - destruction around neck of teeth
* Fatigue
148
Investigation of Sjogren's
* Serology - Anti-Ro (mc) and Anti-La Ab
* Schirmer's test:
• Filter paper placed under lower eyelid
• Induces tears
• +ve if <5mm of paper is wet after 5 mins
* 50% have RF
149
Treatment of Sjogren's
* Artificial tears
* Salivary substitutes
* Vaginal lubricants
* Paracetamol/ NSAIDs for MSK Sx
150
Why is regular ocular monitoring required for hydroxychloroquine
Can cause retinal toxicity
151
Cx of Sjogren's syndrome
* Conjunctivitis
* Yeast infections
* Dental cavities
* Non-Hodgkin's lymphoma
* Renal impairment
152
Describe Raynaud's phenomenon
* reduced blood flow to digits triggered by cold/stress
* Fingers go white then blue then red when blood flow returns
153
What is scleroderma (systemic sclerosis)
Autoimmune inflammatory and fibrotic connective tissue disease
154
What are the 2 types of scleroderma
* Limited cutaneous systemic sclerosis (mc)
* Diffuse cutaneous systemic sclerosis
155
Features of limited cutaneous systemic sclerosis
CREST
* Calcinosis - SC
* Raynaud’s phenomenon
* oEsophageal dysmotility - dysphagia, acid reflux
* Sclerodactyly - thickening/ tightening of skin on fingers/ toes (movement restriction)
* Telangiectasia - dilated/ broken bv located near the surface of the skin (fingers, palm, face)
156
Features of diffuse cutaneous systemic sclerosis
CREST +
* CV - HTN
* Lung - dry cough, pulmonary HTN, fibrosis
* Renal - glomerulonephritis
157
Diagnosis of scleroderma
* Antinuclear Ab (non-specific)
* Anti-centromere Ab (mc in limited)
* Anti-Scl-70 Ab (mc in diffuse)
* Nailfold Capillaroscopy - examine nailfold to see health of peripheral capillaries (avascular areas and micro-haemorrhages)
158
Treatment of scleroderma
* Renal crisis - ACEi
* Prednisolone
* GI Sx - PPI
* Raynaud's - avoid cold, CCB e.g. Nifedipine or amlodipine
* Skin Sx - topical emollient
* Hand exercises
159
Define myositis
Autoimmune disorders where there is inflammation in skeletal muscles
160
Difference between polymyositis and dermatomyositis
* Polymyositis - chronic inflammation of muscles
* Dermatomyositis - CT disorder where there's chronic inflammation of skin and muscles
161
Describe the presentation of polymyositis/ dermatomyositis
* Symmetrical wasting of muscles of the shoulder and pelvic girdle
* Muscle pain, fatigue and weakness
* Dermatomyositis = skin changes
* Polymyositis = no skin changes
162
Describe the skin changes in dermatomyositis
* Gottron's papules - scales on knuckles, elbow and knees
* purple rash on eyelids and face (heliotrope)
* Photosensitive erythematous rash on back and shoulders
* Periorbital oedema
163
Diagnosis of polymyositis/ dermatomyositis
* Muscle fibre biopsy (diagnostic) - inflammation and endothelial hyperplasia
* Serum creatine kinase - very high
* AutoAb:
• Anti-Jo1 Ab (mostly poly)
• Anti-Mi-2 Ab (derm only)
• ANAs (derm only)
164
Treatment of polymyositis/ dermatomyositis
* IV/ oral corticosteroids (eg prednisolone)
When steroids inadequate:
* Immunosuppressants - methotrexate, azathioprine
* IV Ig
* Biologics - rituximab
165
Give 3 types of primary bone tumour
* Osteosarcoma - mc
* Ewing sarcoma - mesenchymal stem cell, small round blue cell tumour
* Chondrosarcoma - cartilage
166
Describe osteosarcoma (associations and epidemiology)
* Mc primary bone malignancy
* Mc in 15-20y/o
* Rapidly metastasise to lungs
* Associated with Paget's
167
What are the mc sources of secondary bone tumours
BLT KP
* Breast
* Lungs
* Thyroid
* Kidney
* Prostate
168
Presentation of bone tumours
* Local bone pain, swelling and fractures
* Severe pain worse at night
* Systemic - weight loss, fatigue, fever, malaise
* Soft tissue lump
169
Diagnosis of bone tumours
* Xray: lytic bone lesions: osteosclerosis = prostatic metastases
* Raised ALP
* Hypercalcaemia
* Skeletal isotope scan - show bony metastases as hot areas before changes
* Bone biopsy
170
XR sign of ewing sarcoma
Onion skin
171
XR sign of an osteosarcoma
sunburst and codman triangle
172
Treatment of bone tumours
* Chemo/radiotherapy
* Analgesics and bisphosphonates
* Surgery - resection
172
XR sign of a chondrosarcoma
Patchy, moth-eaten
173
What is Marfan syndrome
* Autosomal dominant CT disorder
* Affects gene (FBN1) responsible for fibrillin which normally envelopes elastin
174
Describe the presentation of Marfan syndrome (8)
* Tall stature - long arms and long legs
* Arachnodactyly - long fingers and toes
* Joint Hypermobility (flexibility)
* Pectus excavatum (funnel chest) - sternum shrunk in
* Pectus carinatum (pigeon chest) - sternum pushed out
* Wide arm span
* High arch palate - leads to dental crowding
* Myopia +/- astigmatism
175
Describe 2 tests for arachnodactyly
* Wrist sign - little finger and thumb of one hand overlap when wrapped around wrist of the other hand
* Thumb sign - When patient bends thumb toward palm and covers it with the fingers, the tip of the thumb protrudes beyond the palm of the clenched hand.
176
Investigation of Marfan
* +ve wrist and thumb test
* ECHO - check heart, valves and aorta conditions
* Ophthalmic assessment - myopia (can't see far)
* MRI thorax - aortic root dilation, aortic dissection, AR, MV prolapse/regurg
177
Treatment of Marfan syndrome
* BBs - metoprolol
* Angiotensin 2 receptor antagonists (losartan)
* If above CI or not tolerated then give verapamil
* Physiotherapy and analgesia
* Corrective lens
178
Complications of Marfan syndrome
* Mitral/ aortic valve prolapse
* Aortic aneurysm
* Lens dislocation
* Joint dislocation
* Pneumothroax
* Scoliosis
179
What is Ehlers-Danlos syndrome
* Group of inherited CT disorders mainly caused by mutations of collagen (mc T3) proteins
* 13 subtypes
* Mainly auto dom
180
What is the mc subtype of EDS
Hypermobile EDS
181
What is the most dangerous subtype of EDS and why
Vascular EDS
* Decrease in type 3 collagen weakens blood vessels
* Increases risk of aortic aneurysm and rupture
182
Presentation of EDS
* Joint hypermobility
* Soft, silky skin
* thin and Stretchy skin (hyperextensibility)
* Easy bruising
* Recurrent dislocation
* Joint/ spine pain
* Motor delay in infancy
183
Investigation of EDS
* Beighton score to assess hypermobility
• Palms flat on floor when bent over with straight legs
• Elbows hyperextend
• Knees hyperextend
• Thumb can bend to touch the forearm
• Little finger hyperextends past 90 degrees
* Genetic testing - N/A for hypermobile EDS
* MSK and skin manifestations
184
Treatment of EDS
* Avoid contact sport and physically demanding jobs
* Physiotherapy and occupational therapy
* Genetic counselling
* Analgesia
185
What is mechanical lower back pain
* Source of pain may be in spinal joints, discs, vertebrae or soft tissue
* Back pain with no underlying disease
* Common in young people (20-55)
186
What is lumbar spondylosis
* Degeneration of intervertebral disc (rotation and bending)
* Loses compliance and thins over time
* MC site = L4/L5 or L5/S1
187
What are some red flags for serious pathology of back pain
TUNA FISH:
* Trauma - osteoporosis
* Unexplained weight loss - cancer
* Neurological Sx - cauda equina syndrome
* Age > 50 or < 20 - secondary bone cancer, ankylosing spondylitis
* Fever - infection
* IVDU - infection
* Steroid use - infection
* History of cancer - metastasised to spine
188
Treatment for mechanical lower back pain
Usually self-limiting
* Analgesia
* Physiotherapy
189
What is osteomalacia
* Defective bone mineralisation causing soft bones
* Rickets - when this occurs before growth plates close in children
190
Explain the pathophysiology of osteomalacia
* Vit D deficiency results in reduced Ca and phosphate
* Low Ca results in defective bone mineralisation
191
Causes of osteomalacia
* Vit D deficiency - poor sunlight, malabsorption, LF, darker skin
* Secondary HyperPTH - increase Ca resorption from bones (due to Vit D deficiency)
* CKD/ RF - Reduced active Vit D production
* LF - reduced reaction in Vit D pathway (cholecalciferol --> 25-hydroxyVit D)
192
Signs and symptoms of osteomalacia and rickets
* Skeletal deformities
* Fractures
* Proximal muscle weakness and aches
* Fatigue
* Bone pain
* Rickets: bow-legged, knocked-knees, hypotonis
193
Investigation of osteomalacia
* Iliac crest biopsy using double tetracycline labelling - incomplete mineralisation (diagnostic but rarely performed due to invasiveness)
* raised PTH
* low Ca and phosphate
* Low serum 25-hydroxyvitamin D (<25nmol/L)
* High ALP
* Xray - Looser's zone (fragility fractures partially through bone)
194
Treatment of osteomalacia
* Vit D2 (Ergocalciferol) or D3 (colecalciferol)
* Ca + calcitriol
195
What is Paget's disease of bone (PDB)
* Focal disorder of bone remodelling (turnover) due to excessive activity of osteoblasts and osteoclasts
* Excessive turnover isn't coordinated = patchy areas of sclerosis and lysis
196
Presentation of PDB
Asymptomatic early on
* Bone pain
* Bone deformity - frontal bossing
* Fractures
* Hearing loss due to compression of vestibulocochlear nerve
* mc in femur, pelvis and skull
197
Investigation of PDB
* Raised ALP
* Normal LFTs, Ca and phosphate
* Xray
• Osteoporosis circumscripta - well defined osteolytic lesions (less dense)
• cotton wool skull - poorly defined patchy areas
• bone enlargement and deformity
• V shaped lytic lesions in long bones
198
Treatment of PDB
* Bisphosphonates - anti-resorptive, e.g. oral risedronate Na or alendronic acid
* NSAIDs for pain relief
* SC/IM Calcitonin
