Rheumatology Flashcards

1
Q

What are the X-Ray changes in Osteoporosis?

A
LOSS
Loss of joint space
Osteophytes
Subchondral/subarticular sclerosis
Subchondral cysts
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2
Q

Risk factors for osteoarthritis

A
Obesity
Old age
Female
Family history
Occupation
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3
Q

Presentation for osteoarthritis

A
Pain on movement
Crepitus
Worse at end of day/no morning stiffness
Worsened by exercise/relieved by rest
No systemic features
Stiffness after rest - gelling
Bony swelling & deformity - Heberden's and Bouchard's nodes
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4
Q

Where does Heberden’s node affect?

A

DIP

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5
Q

Where does Bouchard’s node affect?

A

PIP

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6
Q

Management for osteoarthritis

A

Weight loss
Exercises for muscle strength - physiotherapy
Aids and devices/walking stick - occupational therapy

Oral paracetamol and topical NSAIDs
Oral NSAID + PPI e.g. Omeprazole
Intra-articular steroid injections (methylprednisolone)

Joint replacement (hip and knee)

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7
Q

What joint is most commonly affected in septic arthritis?

A

Knee

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8
Q

What is the commonest bacteria causing septic arthritis

A

Staph aureus

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9
Q

What other bacteria cause septic arthritis

A

Step pyogenes
H. influenzae
E. coli
Nesisseria gonorrhoea (in sexually active)

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10
Q

Risk factors for septic arthritis

A
Prosthetic joint
Rheumatoid arthritis
Diabetes
IV drug abuse
Alcohol
Immunosuppression
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11
Q

Presentation for septic arthritis

A
Usually only affects ONE joint - the KNEE
Hot
Red
Swollen
Painful
Immobile/restricted
Fever lethargy
Sepsis
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12
Q

Investigations for septic arthritis

A

Joint aspiration for synovial fluid microscopy and culture
WCC
Polarised microscopy (exclude gout = urate crystals & pseudogout = calcium pyrophosphate)
ESR/CRP raised
X-ray

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13
Q

Management for septic arthritis

A

Empirical antibiotics
Flucloxacillin for staph + rifampicin
Vancomycin for MSRA/penicillin allergy

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14
Q

Define rheumatoid arthritis

A

Chronic inflammatory autoimmune disease characterised by synovial joint inflammation leading to joint destruction

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15
Q

What is the pattern of rheumatoid arthritis

A

Symmetrical and affects multiple joints

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16
Q

Genetic associations for rheumatoid arthritis

A

HLA DR4

HLA DR1

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17
Q

Who is more commonly affected in rheumatoid arthritis

A

50 year old woman

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18
Q

Presentation for rheumatoid arthritis

A
Symmetrical polyarthritis
Joint pain + swelling
Worse after rest/improves with exercise
Morning stiffness
Sudden onset
Fatigue
Weight loss
Fever
Muscle aches and weakness
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19
Q

What joints are affected in rheumatoid arthritis

A
MCP
MTP
PIP
Wrist and ankle
Cervical spine
Knee, hips, shoulders
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20
Q

Signs on examination for rheumatoid arthritis

A

Z-shaped deformed thumb
Swan neck deformity
Boutonnieres deformity - flexed at PIP and extended at DIP
Ulnar deviation of the fingers

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21
Q

What is palindromic rheumatism?

A

Self-limiting short episodes of inflammatory arthritis. Only lasts 1-2 days then resolves

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22
Q

Extra-articular manifestations of rheumatoid arthritis

A
Rheumatoid nodules
Lymphadenopathy
Secondary Sjogren's syndrome
Felty's syndrome = RA + splenomegaly + neutropenia
Obliterative bronchiolitis
Caplan's syndrome (pulmonary fibrosis with pulmonary nodules)
Anaemia
Cardiovascular disease
Epscleritis and scleritis
Carpal tunnel syndrome
Amyloidosis
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23
Q

Investigations for rheumatoid arthritis

A

Anti-CCP
Rheumatoid factor
FBC
X-ray

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24
Q

X-ray features seen in rheumatoid arthritis

A
LESS
Loss of joint space
Bony Erosions
Soft tissue swelling
Softening of bones (osteopenia)
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25
Q

Treatment for rheumatoid arthritis

A

1st line = DMARDs - Methotrexate
2nd line = two DMARDS - methotrexate + sulfasalazine/hydroxychloroquine/leflunomide
3rd line = Methotrexate + TNF inhibitor - adalimumab
4th line = Methotrexate + rituximab

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26
Q

Side effects of methotrexate

A

Pneumonitis
Oral ulcers
Hepatotoxicity
Teratogenic - harmful to pregnancy - PRESCRIBE WITH FOLIC ACID 5MG

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27
Q

Side effects of hydroxychloroquine

A

Irreversible retinopathy

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28
Q

Side effects of sulfasalazine

A

Reduced sperm count
Skin rash
Bone marrow suppression

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29
Q

Side effects of leflunomide

A

Teratogenic
Oral ulcers
Hepatotoxicity
Peripheral neuropathy

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30
Q

Examples of Anti-TNF drugs

A

Infliximab
Adalimumab
Golimumab
Etanercept

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31
Q

Side effects of Anti-TNF drugs

A

Reactivation of TB
Infection/sepsis
Hepatitis B

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32
Q

What is rituximab

A

A monoclonal antibody

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33
Q

Side effects of rituximab

A

Infections/sepsis
Night sweats
Thrombocytopenia (low platelets)

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34
Q

What treatment do you give in an acute exacerbation of rheumatoid arthritis?

A

Methylprednisolone

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35
Q

Risk factors for gout

A
Male
Obesity
High purine diet (meat and seafood)
Alcohol
Diuretics
Cardiovascular or kidney disease
Family history
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36
Q

Which joints are affected in gout

A
BIG TOE >50%
Wrists
Thumb
Knee
Ankle
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37
Q

Investigations for gout

A

Joint aspiration and polarised light microscopy of synovial fluid = negative birefringent needles, URATE crystals
Serum urate raised
X-ray: Soft tissue swelling, ‘punched out’ erosions, tophi

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38
Q

Treatment for gout

A

1st line = NSAIDs e.g. Ibuprofen/naproxen
2nd line = Colchicine
3rd line = Steroids - in patients with renal failure
Rest, elevation, ice

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39
Q

Contraindications for NSAIDS

A

Peptic ulcer

Heart/renal failure

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40
Q

Side effects of colchicine

A

GI upset

Diarrhoea

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41
Q

Prophylaxis for gout

A

Lose weight
Reduce alcohol consumption
Avoid purine rich meats

Allopurinol - xanthine oxidate inhibitor

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42
Q

Side effects of allopurinol

A

Rash
Fever
Reduced WCC
Avoid allopurinol until acute attack has settled

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43
Q

How does gout present?

A

Hot, swollen, painful joint

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44
Q

How does pseudogout present?

A

Hot, swollen, painful
More common in elderly
Large joints - knee, shoulders, wrist and hips

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45
Q

Causes of pseudogout

A

Hyperparathyroidism
Surgery
Trauma
Illness

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46
Q

Investigations for pseudogout

A

Polarised light microscopy of synovial fluid - positive rhomboid crystals, CALCIUM PYROPHOSPHATE
X-ray: Chondrocalcinosis - calcium deposition
Exclude septic arthritis

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47
Q

Management for pseudogout

A

NSAIDs + colchicine
Joint aspiration
Intra-articular steroids
Icepacks + rest

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48
Q

Define SLE

A

Inflammatory autoimmune connective tissue disease with antinuclear antibodies
“Systemic” because it affects multiple organs

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49
Q

What age group and people are typically affected by SLE?

A

Women of CHILD-BEARING age

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50
Q

Symptoms for SLE

A
Fatigue
Weight loss
Fever
Myalgia
Lymphadenopathy
Alopecia
Raynauds
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51
Q

Criteria for SLE

A
4 out of 11:
Discoid rash
Malar butterfly rash
Photosensitivity
Oral ulcers
Non-erosive arthritis
Serositis - pleuritis/pericarditis
Renal disorder
CNS disorder - seizures or psychosis
Haematological disorder - leukopenia, thrombocytopenia, lymphopenia
Immunological disorder - Anti-dsDNA, Anti-Sm, Antiphospholipid antibodies
ANA +ve in >95%
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52
Q

Investigations for SLE

A

ESR raised + CRP normal
FBC - anaemia, leukopenia, thrombocytopenia
Autoantibodies - ANA, Anti-dsDNA, Anti-smith
C3 & C4 decreased
Proteinuria in lupus nephritis

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53
Q

Treatment for SLE

A
NSAIDs
Steroids (prednisolone)
Hydroxychloroquine
Suncream and sun avoidance
Methotrexate
Azathioprine
Mycophenolate
Rituximab + belimumab
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54
Q

Define ankylosing spondylitis

A

Inflammatory condition affecting the spine that causes progressive stiffness and pain

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55
Q

What is the genetic association with ankylosing spondylitis

A

HLA B27

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56
Q

How does ankylosing spondylitis present?

A

Young adult male <30 years old
Gradual onset of lower back pain >3 months
Worse at night and in the morning
Pain and stiffness is worse with rest and improves with movement/exercise
Pain radiates from the sacroiliac joints to hips/buttocks
Loss of spinal movement hence decreased thoracic expansion
Kyphosis
Neck hyperextension (question mark posture)
Spino-cranial ankylosis

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57
Q

Associations with ankylosing spondylitis

A
Enthesitis
Dactylitis
Anterior uveitis
Aortitis
Anaemia
Heart block
Restrictive lung disease
Pulmonary fibrosis
Inflammatory bowel disease
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58
Q

Investigations for ankylosing spondylitis

A

Clinical - Schober’s test
MRI spine - bone marrow oedema
CRP & ESR raised
X-ray of spine: ‘Bamboo spine’, subchondral erosions and sclerosis, fusion of the facet, sacroiliac and costovertebral joints, syndesmophytes, ossification

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59
Q

Treatment for ankylosing spondylitis

A
Exercise + physiotherapy
NSAIDs - ibuprofen + naproxen
Local steroids injections
Anti-TNF medications - etanercept, inflixiumab
Surgery - hip replacement
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60
Q

Associations with enteric arthropathy

A

Inflammatory bowel disease
GI bypass
Coeliac disease
Whipple’s disease

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61
Q

Define psoriatic arthritis

A

Inflammatory arthritis associated with psoriasis

Occurs in 10-20% of people with psoriasis

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62
Q

How does psoriatic arthritis present?

A

Symmetrical polyarthritis - hands, wrists, ankles, DIP
Asymmetrical pauciarthritis - digits (toes and feet), fingers
Spondylitic pattern - back stiffness, sacroiliitis, atlanto-axial joint involvement
Other areas: spine, achilles tendon, plantar fascia

63
Q

Signs of psoriatic arthritis

A

Plaques of psoriasis on the skin
Pitting of the nails
Onycholysis - separation of the nail from the nail bed
Dactylitis - inflammation of the digits
Enthesitis - inflammation of the points of insertion of tendon into bone

64
Q

Other associations with psoriatic arthritis

A
Eye disease (conjunctivitis and anterior uveitis)
Aortitis
Amyloidosis
65
Q

Investigations for psoriatic arthritis

A
X-ray: "Pencil in cup" appearance
Central erosions
Osteolysis
Dactylitis
Ankylosis
Periostitis
66
Q

Define arthritis mutilans

A

Occurs in the phalanxes, there is osteolytic destruction of the bones around the joints in the digits. Leads to shortening of the digits “telescopic finger”

67
Q

Treatment for psoriatic arthritis

A

NSAIDs
DMARDs - methotrexate, sulfasalazine
Anti-TNF medications - etanercept, infliximab
Ustekinumab - last line monoclonal antibody

68
Q

Define reactive arthritis

A

Where synovitis occurs in the joints as a reaction to a recent infective trigger - affecting the lower limb
Typically causes an acute monoarthritis affecting a single joint most often the knee - warm, swollen and painful joint

69
Q

Differential diagnoses for reactive arthritis

A

Septic arthritis - in reactive arthritis there is no infection in the joint

70
Q

Most common causative organisms which trigger reactive arthritis

A

Gastroenteritis (campylobacter, salmonella, shigella, Yersinia)
Chlamydia

71
Q

What is Reiter’s syndrome?

A

Urethritis
Arthritis
Conjunctivitis

CANT SEE, CANT WEE, CANT CLIMB A TREE

72
Q

Investigations for reactive arthritis

A

ESR & CRP raised
Aspirate joint and send sample for gram staining, culture and sensitivity - EXCLUDE septic arthritis
Crystal examination of fluid - rule out gout & pseudogout

73
Q

Treatment for reactive arthritis

A

NSAIDs
Steroid injections
DMARDs - methotrexate, sulfasalazine

74
Q

Define Behcet’s disease

A

A systemic inflammatory disorder of unknown cause
Characteristically presents with recurrent oral and genital ulcers
Link with HLA-B5 gene

75
Q

Features of Behcet’s disease

A
Mouth ulcers - at least 3 a year
Genital ulcers
Skin - erythema nodosum, papules &amp; pustules
Eyes - Anterior or posterior uveitis, retinal haemorrhage
MSK - morning stiffness, arthralgia
GI - inflammation and ulcers
CNS - Meningitis, migraines
Veins - Budd-Chari syndrome, DVT
76
Q

Investigations for Behcet’s disease

A

Clinical diagnosis

Pathergy test - needle prick leads to papule formation

77
Q

Treatment for Behcet’s disease

A
Topical steroids for mouth ulcers
Systemic steroids - oral prednisolone
Colchicine
Immunosuppressants - azathioprine
Infliximab
78
Q

Define Polymyalgia Rheumatica

A

Inflammatory condition that causes pain and stiffness in the shoulders, pelvic girdle and neck
Strong association to giant cell arteritis

79
Q

Features of Polymyalgia Rheumatica

A
Age >50 years, more common in female caucasians
Subacute onset <2 weeks
Bilateral shoulder pain radiating to elbows
Bilateral pelvic girdle pain
Worse with movement
Morning stiffness >45 minutes
Carpal tunnel syndrome
Weight loss, fever, fatigue
80
Q

Investigations for Polymyalgia Rheumatica

A

Clinical diagnosis + response to steroids
ESR & CRP elevated
Creatine kinase levels are normal

81
Q

Treatment for Polymyalgia Rheumatica

A

Prednisolone 15mg
Consider other diagnosis if no response after 1 week
Risk of adrenal crisis if steroids stopped abruptly

82
Q

Define Giant Cell Arteritis

A

Systemic vasculitis of the medium and large arteries

Strong link with polymyalgia rheumatica

83
Q

Symptoms of Giant Cell Arteritis

A

Headache - severe unilateral
Scalp tenderness
Jaw claudication
Amaurosis fugax - sudden blindness in one eye

84
Q

Investigations for Giant Cell Arteritis

A
Clinical presentation
Raised ESR >50
Raised CRP
Temporal artery biopsy
Raised alkaline phosphatase
85
Q

Treatment for Giant Cell Arteritis

A

Prednisolone 60mg/day
Aspirin
PPI - Omeprazole for gastric prevention whilst on steroids
Bisphosphonates for osteoporosis prevent

86
Q

Define polymyositis

A

Condition of chronic inflammation of muscles

87
Q

Define dermatomyositis

A

Connective tissue disorder where there is chronic inflammation of the skin and muscles

88
Q

What is the key investigation for diagnosing polymyositis and dermatomyositis

A

Creatine kinase blood test = >1,000

89
Q

What are the causes of a raised creatine kinase level

A
Polymyositis and dermatomyositis
Rhabdomyolysis
Acute kidney injury
MI
Stains/colchicine
Strenuous exercise
HIV
90
Q

Presentation for polymyositis and dermatomyositis

A

Muscle pain, fatigue and weakness

Occurs bilaterally and affects proximal muscles - affecting shoulders and pelvic girdle

91
Q

What skin involvement is there in dermatomyositis

A
Gottren's lesions - patches on knuckles
Macular rash
Purple rash on face and eyelids
Preorbital oedema
Subcutaneous calcinosis
92
Q

Investigations for polymyositis and dermatomyositis

A
Clinical presentation
Elevated creatine kinase >1,000
Electromyography
Muscle biopsy
Autoantibodies - Anti-Jo-1 = Polymyositis, Anti-Mi-2 = Dermatomyositis, ANA = Dermatomyositis
93
Q

What autoantibody is present in polymyositis?

A

Anti-Jo-1

94
Q

What autoantibody is present in dermatomyositis?

A

Anti-Mi-2

ANA

95
Q

Treatment for polymyositis and dermatomyositis

A

Prednisolone

Immunosuppressants - azathioprine

96
Q

Define osteoporosis

A

Reduction in the density of the bones

97
Q

Define osteopenia

A

Less severe reduction in bone density than osteoporosis

98
Q

Risk factors for osteoporosis

A
SHATTERED
Steroid use
Hyperthyroidism, hyperparathyroidism, hypercalciuria
Alcohol and smoking
Thin (BMI<22)
Testosterone low
Early menopause - low oestrogen
Renal or liver failure
Erosive/inflammatory bone disease (myeloma/RA)
Dietary low calcium/malabsorption
99
Q

What is the tool to measure the risk of a fracture in the next 10 years?

A

FRAX

Uses age, BMI, co-morbidities, smoking, alcohol, family history to calculate

100
Q

How is bone mineral density measured?

A

DEXA scan

101
Q

What is a T-score and what scores indicate what diagnosis?

A

The T-score gives you the number of standard deviations below the mean for a healthy young adult.

> -1 = normal
-1 - -2.5 = osteopenia

102
Q

Lifestyle treatment for osteoporosis

A
Weight-bearing exercise
Stop smoking
Reduce alcohol consumption
Calcium &amp; Vitamin D rich diet
Avoid falls
103
Q

Pharmacological treatment for osteoporosis

A

Bisphosphonates - 1st line
Alendronate, risedronate, zolendronic acid

Calcium with Vitamin D supplements
Denosumab - monoclonal antibody
Strontium ranelate
Raloxifene

104
Q

How do bisphosphonates work?

A

Reduce osteoclastic activity, preventing reabsorption

105
Q

Side effects of bisphosphonates

A

Reflux
Oesophageal ulcers - sit upright
Jaw osteonecrosis
Photosensitivity

106
Q

Define osteomalacia

A

Normal amount of bone but it is soft (low mineral content).
Results from insufficient vitamin D
The result if it occurs after the fusion of the epiphyses

107
Q

What is Rickets?

A

Rickets is the result of osteomalacia is this occurs during the period of bone growth in children

108
Q

Causes of osteomalacia

A
Vitamin D deficiency - due to malabsorption, poor diet or lack of sunlight
Renal osteodystrophy
Vitamin D resistance
Drug induced - anticonvulsants
Liver disease
109
Q

Symptoms of Rickets

A

Growth retardation
Hypotonia
Knock-kneed
Bow-legged

110
Q

Symptoms of osteomalacia

A

Bone pain
Fractures
Muscle weakness
Fatigue

111
Q

Investigations for osteomalacia

A
Serum-25-hydroxyvitamin D <25nmol/L
Serum calcium low
Serum phosphate low
Alkaline phosphate may be high
PTH high (secondary hyperparathyroidism)
X-ray=osteopenia
112
Q

Treatment for osteomalacia

A

Vitamin D

113
Q

Define Paget’s disease

A

Disorder of bone turnover. Increased bone turnover due to increased numbers of osteoblasts and osteoclasts. Results in remodelling, bone enlargement, deformity and weakness

114
Q

Symptoms of Paget’s disease

A

Bone pain
Bone deformity
Fractures
Hearing loss if bones of the ear are affected

115
Q

Complications of Paget’s disease

A

Osteoarthritis
Increased calcium
Nerve compression due to bone overgrowth in spine
Osteosarcoma

116
Q

Investigations in Paget’s disease

A

X-ray - Bone enlargement and deformity
‘Cotton wool’ appearance of skull
‘V-shaped’ defects in the long bones
Osteoporosis circumscripta - osteolytic lesions

Raised alkaline phosphatase
Normal calcium
Normal phosphate

117
Q

Treatment for Paget’s disease

A

Bisphosphonates - Alendronate

NSAIDs for bone pain

118
Q

Define systemic sclerosis

A

An autoimmune inflammatory and fibrotic connective tissue disorder
Scleroderma is hardening of the skin
Two types - limited and diffuse cutaneous systemic sclerosis

119
Q

What antibodies are present in diffuse cutaneous systemic sclerosis?

A
Anti-Scl-70 antibodies
Antinuclear antibodies (ANA)
120
Q

Features of diffuse cutaneous systemic sclerosis

A

Includes features of CREST
Cardiovascular problems - hypertension, coronary artery disease
Lung problems - pulmonary hypertension, pulmonary fibrosis
Kidney problems - glomerulonephritis

121
Q

Features of limited cutaneous systemic sclerosis

A

Calcinosis - calcium deposits under the skin - fingertips
Raynaud’s phenomenon - Fingertips go white -> blue due to cold
Oesophageal dysmotility - swallowing difficulties
Sclerodactyly - swollen, tight digits
Telangiectasia - dilated small blood vessels in the skin

122
Q

What is Raynaud’s phenomenon

A

Fingertips go white -> blue due to cold

123
Q

What causes Raynaud’s phenomenon

A
SLE
RA
Dermato/polymyositis
Vibrating tools
Beta-blockers
Hypothyroidism
Thrombocytosis
124
Q

Treatment for Raynaud’s phenomenon

A

Keep warm
Stop smoking
Nifedipine, sildenafil

125
Q

Antibodies present in limited cutaneous systemic sclerosis

A
Anti-centromere antibodies
Antinuclear antibodies (ANA)
126
Q

Investigations for systemic sclerosis

A

Clinical features
Antibodies
Nailfold capillaroscopy

127
Q

Treatment for systemic sclerosis

A

Immunosuppressants: IV cyclophosphamide in diffuse disease
Avoid smoking
Regular emollients

128
Q

Define osteomyelitis

A

Infection of the bone

129
Q

Common organisms causing osteomyelitis

A

Staphylococcus aureus
Pseudomonas
E.coli
Streptococci

130
Q

Risk factors for osteomyelitis

A
Diabetes
Vascular disease
Impaired immunity
Sickle cell disease
Open fractures
131
Q

Clinical features of osteomyelitis

A

Cancellous bone affected in adults - vertebrae = IV drug users, feet = diabetic

Vascular bone affected in children - distal femur, upper tibia

Infection leads to cortex erosion, with holes
Gradual onset pain
Tenderness, warmth, erythema

132
Q

Investigations in osteomyelitis

A
ESR increased
CRP increased
Blood culture positive in 60%
Bone biopsy and culture - gold standard
X-ray after 14 days = haziness, loss of density
133
Q

Treatment for osteomyelitis

A

6 weeks of antibiotics: Vancomycin & Cefotaxime

Ciprofloxacin for pseudomonas

134
Q

Complications of osteomyelitis

A

Septic arthritis
Fractures
Deformity
Chronic osteomyelitis

135
Q

Define compartment syndrome

A

Occurs when swelling of tissues in an anatomic compartment occludes the vascular supply leading to necrosis and hypoxia

136
Q

Features of compartment syndrome

A

Pain, especially on movement
Paraesthesia
Pallor
Paralysis of the muscle group

137
Q

Investigations for compartment syndrome

A

Intracompartmental pressure: >20mmHg = abnormal

>30mmHg = critical

138
Q

Treatment for compartment syndrome

A

Prompt fasciotomy

IV fluids in renal failure due to myoglobinuria following fasciotomy

139
Q

Define cauda equina syndrome

A

Compression of the cauda equina

Caused by large herniation or prolapses of lumbar discs, but may be from cord tumours or spondylosis

140
Q

Features of cauda equina syndrome

A
Poor anal tone
Severe back pain - sudden onset
Saddle area (perianal) sensation loss
Incontinence/retention of faeces or urine
Paralysis +/- sensory loss
141
Q

Investigations for cauda equina syndrome

A

MRI within 4 hours

142
Q

Define carpal tunnel syndrome

A

Due to compression of the median nerve

143
Q

Symptoms of carpal tunnel syndrome

A

Tingling or pain in the thumb, index and middle fingers
Pain is relieved by dangling the hand over the edge of the bed and shaking it ‘wake and shake’
Sensory loss and weakness of abductor pollicis brevis
Wasting of the thenar eminence

144
Q

Investigations for carpal tunnel syndrome

A

Phalen’s test

Tilen’s test

145
Q

What is Phalen’s test?

A

Wrist hyperflexed for 1 minute -> reverse prayer sign

146
Q

What is Tinel’s test?

A

Tapping over the nerve induces tingling

147
Q

Treatment for carpal tunnel syndrome

A

Splinting
Corticosteroid injections
Carpal tunnel decompression

148
Q

Associations with carpal tunnel syndrome

A
Hypothyroidism
Diabetes
Obesity
RA
Acromegaly
Amyloidosis
Pregnancy
Gout 
Psuedogout
149
Q

What inheritance pattern is Marfan’s syndrome?

A

Autosomal dominant

150
Q

What causes Marfan’s syndrome

A

Defect in the FBN1 gene on chromosome 15 that codes for the protein fibrillin-1

151
Q

Features of Marfan’s syndrome

A
Tall stature
Long neck
Long limbs
Long fingers (arachnodactyly)
High arch palate
Hypermobility
Pectus excavatum
152
Q

Associated conditions with Marfan’s syndrome

A

Lens dislocation in the eye
Joint dislocations and pain due to hypermobility
Scoliosis of the spine
Pneumothorax
GORD
Mitral valve prolapse (with regurgitation)
Aortic valve prolapse (with regurgitation)
Aortic anuerysms

153
Q

Treatment for Marfan’s syndrome

A

Biggest risk = aortic dissection - treatment with beta blockers
Echocardiogram