Rheumatology

Question 1

Bone pain, tenderness and proximal myopathy (→ waddling gait) → ?

Answer 1

osteomalacia

Question 2

Anti-cyclic citrullinated peptide antibodies are associated with

Answer 2

rheumatoid arthritis

Question 3

Diagnosis of ankylosing spondylitis can be best supported by

Answer 3

sacro-ilitis on a pelvic X-ray

Question 4

*** presents similarly to lateral epicondylitis however pain is typically distal to the epicondyle and worse on elbow extension/forearm pronation

Answer 4

Radial tunnel syndrome

Question 5

Rickets can present as widening of the wrist joints due to an

Answer 5

excess of non-mineralized osteoid at the growth plate

Question 6

Sensory loss of posterolateral aspect of leg and lateral aspect of foot, weakness in plantar flexion of foot, reduced ankle reflex, positive sciatic nerve stretch test

Answer 6

S1 lesion features

Question 7

L5 nerve root compression

Answer 7

Sensory loss dorsum of foot
Weakness in foot and big toe dorsiflexion
Reflexes intact
Positive sciatic nerve stretch test

Question 8

Sensory loss anterior aspect of knee and medial malleolus
Weak knee extension and hip adduction
Reduced knee reflex
Positive femoral stretch test

Answer 8

L4 nerve root compression

Question 9

The most common cause of death in systemic sclerosis is respiratory involvement:

Answer 9

interstitial lung disease and pulmonary arterial hypertension

Question 10

Anti-cyclic citrullinated peptide antibodies are associated with

Answer 10

rheumatoid arthritis

Question 13

Pseudoxanthoma elasticum is associated with

Answer 13

mitral valve prolapse and increased risk of ischaemic heart disease

Question 14

***is the most likely diagnosis in a patient with gradual onset leg and back pain, weakness and numbness which is brought on by walking (with a normal clinical examination)

Answer 14

Spinal stenosis

Question 15

Marfan’s syndrome is associated with dilation of the

Answer 15

aortic sinuses which may predispose to aortic dissection

Question 16

Patients with*** have normal calcium, phosphate, ALP and PTH levels

Answer 16

osteopetrosis

bone pains and neuropathies are common.
calcium, phosphate and ALP are normal
stem cell transplant and interferon-gamma have been used for treatment

Question 17

Anti-CCP antibodies are a marker of poor prognosis in rheumatoid arthritis

Question 18

Gram staining is negative in around 30-50% of cases of septic arthritis

Question 19

Ankylosing spondylitis - x-ray findings:

Answer 19

subchondral erosions, sclerosis
and squaring of lumbar vertebrae

Question 20

. ‘Rugger-Jersey’ spine refers to the appearance of increased density at the upper and lower ends of the vertebral bodies, giving them a striped appearance similar to a rugby jersey. This is typically seen in****.

Answer 20

hyperparathyroidism

Question 21

Azathioprine is metabolised to the active compound mercaptopurine, a purine analogue that

Answer 21

inhibits purine synthesis

Adverse effects include
bone marrow depression
consider a full blood count if infection/bleeding occurs
nausea/vomiting
pancreatitis
increased risk of non-melanoma skin cancer

Question 22

Staphylococcus aureus is the most common cause of osteomyelitis

Answer 22

Staph. aureus is the most common cause except in patients with sickle-cell anaemia where Salmonella species predominate

Question 23

Previous chemotherapy is a significant risk factor for avascular necrosis

Question 24

Bisphosphonates are associated with an increased risk of atypical stress fractures

Answer 24

Some authorities recommend stopping bisphosphonates at 5 years if the following apply:
patient is < 75-years-old
femoral neck T-score of > -2.5
low risk according to FRAX/NOGG

Question 25

Reactive arthritis: develops after an infection where the organism cannot be recovered from the joint

Answer 25

Keratoderma blennorrhagica can also occur, the typical appearance is that of small hard nodules on the soles of the feet, and this is diagnostic of reactive arthritis.

Question 26

Sjögren’s syndrome, Rx for xerostomia

Answer 26

Pilocarpine is a parasympathomimetic agent, which means it stimulates the parasympathetic nervous system. The parasympathetic nervous system is responsible for stimulating salivary gland secretion, among other functions. In patients with primary Sjogren's syndrome, the exocrine glands like the salivary glands are affected, leading to symptoms such as dry mouth (xerostomia). Pilocarpine can help alleviate xerostomia by increasing saliva production via its action on muscarinic receptors in the salivary glands.

Question 27

There is a marked increased risk of lymphoid malignancy (40-60 fold).

Answer 27

Sjögren’s syndrome

Question 28

Juxta-articular osteoporosis/osteopenia is an early x-ray feature of

Answer 28

rheumatoid arthritis Early x-ray findings loss of joint space juxta-articular osteoporosis soft-tissue swelling periarticular erosions subluxation

Question 29

cANCA = granulomatosis with polyangiitis (Wegener's granulomatosis); pANCA = eosinophilic granulomatosis with polyangiitis + others

Question 30

Behcet's syndrome is associated with HLA B51

Question 31

, a medium vessel vasculitis, is clinched by the presence of mononeuritis multiplex i.e. peripheral neuropathy affecting two or more non-contiguous nerve trunks, as well as hepatitis B infection.

Answer 31

polyarteritis nodosa (PAN)

Question 32

Repeated cramping, rhabdomyolysis and myoglobinuria after short bouts of exercise can point towards

Answer 32

McArdle's disease

Question 33

Osteopetrosis and osteoporosis all lab values are normal

Question 34

According to the UK guidelines, patients who are taking a dose equivalent to prednisolone 7.5mg daily for three months or more should be offered*******

Answer 34

osteoporosis prophylaxis.

Question 35

strongly associated withanti-Ro (SSA) antibodies

Answer 35

Systemic lupus erythematosus: pregnancy Overview risk of maternal autoantibodies crossing the placenta leads to a condition termed neonatal lupus erythematosus neonatal complications include congenital heart block strongly associated withanti-Ro (SSA) antibodies

Question 36

Crest is a/w

Answer 36

Malabsorption can develop in these patients secondary to bacterial overgrowth of the sclerosed small intestine

Question 37

Foods to avoid include those high in purines e.g. Liver, kidneys, seafood, oily fish (mackerel, sardines) and yeast products

Answer 37

To prevent gout

Question 38

Type 2 collagen mutations are known to cause

Answer 38

chondrodysplasias - a group of conditions with cartilage maldevelopment, as type 2 collagen is cartilage's main component.

Question 39

Mutations in type 3 collagen are known to cause

Answer 39

vascular-type Ehlers-Danlos syndrome, which has a cluster of signs and symptoms including fragile skin, distinct facial features, hypermobility of joints, and tearing of tendons.

Question 40

Type 4 collagen is predominantly found in the basal lamina and abnormality is associated with

Answer 40

Alport's syndrome - thinning and splitting of the glomerular basement membrane, presenting with isolated haematuria, sensorineural hearing loss, and ocular disturbances.

Question 41

Type 5 collagen is associated with

Answer 41

classical Ehlers-Danlos syndrome, rather than the vascular-type. It is also associated with autoimmune reactions against lung transplants.

Question 42

Anti-La antibodies are associated with

Answer 42

primary Sjogren syndrome, which results mainly in issues with the lacrimal and salivary glands.

Question 43

Anti-scl-70 antibodies (also known as anti-topoisomerase I antibodies)

Answer 43

are primarily associated with diffuse cutaneous systemic sclerosis

Question 44

Anti-Jo-1 antibodies are associated with

Answer 44

antisynthetase syndrome, a subset of inflammatory myopathies. While they can be present in dermatomyositis, they are more commonly associated with interstitial lung disease rather than malignancy-associated dermatomyositis

Question 45

Anti-Mi-2 antibodies are indeed associated with

Answer 45

dermatomyositis, but they are typically found in classic dermatomyositis without associated malignancy. In fact, the presence of anti-Mi-2 antibodies generally indicates a better prognosis and lower risk of associated malignancy.

Question 46

A Z-score is helpful in diagnosing secondary osteoporosis and should always be used for children, young adults, pre-menopausal women and men under the age of 50

Question 47

Anti-ribonuclear protein (anti-RNP) = mixed connective tissue disease

Question 48

DEXA scans: the T score is based on bone mass of young reference population

Question 49

The key to this diagnosis is the proximal myopathy in combination with mechanic hands, which are associated with******. It is important to ask about lung symptoms because there is an association with interstitial lung disease - particularly non-specific interstitial pneumonia or NSIP.

Answer 49

anti-synthetase syndrome

Question 50

Rheumatoid arthritis: initial management is

Answer 50

conventional DMARD monotherapy (usually methotrexate), often with short-term bridging corticosteroid

Question 51

Haemochromatosis is a risk factor for pseudogout

Answer 51

This is a typical presentation of pseudogout. An elevated transferrin saturation may indicate haemochromatosis, a recognised cause of pseudogout A high ferritin level is also seen in haemochromatosis but can be raised in a variety of infective and inflammatory processes, including pseudogout, as part of an acute phase response

Question 52

Synovial fluid sampling is the key investigation in patients with suspected septic arthritis

Question 53

A defect of the glycoprotein structure which usually wraps around elastin

Answer 53

Marfans syndrome In Marfan syndrome, there is a defection of the glycoprotein fibrillin which normally envelopes elastin and as a result individuals with the condition has a range of signs symptoms such as joint hypermobility, chest deformities and long toes and finger amongst others.

Question 54

Low serum calcium, low serum phosphate, raised ALP and raised PTH - osteomalacia

Question 55

There is a marked increased risk of lymphoid malignancy (40-60 fold).

Answer 55

Sjögren’s syndrome

Question 56

Patients who are allergic to aspirin may also react to sulfasalazine

Question 57

RANKL is an enzyme that is targeted by monoclonal antibodies in the treatment of osteoporosis. It ordinarily activates osteoclasts, promoting bone resorption

Question 58

******* an autosomal recessive, hereditary inflammatory disorder characterised by reoccurring episodes of abdominal pain, fever, arthralgia, and chest pain

Answer 58

Familial Mediterranean fever (FMF

Question 59

Rickets can present as widening of the wrist joints due to an excess of non-mineralized osteoid at the growth plate

Question 60

Patients with carpal tunnel syndrome often get relief from shaking their hands

Question 61

Ankylosing spondylitis features - the 'A's

Answer 61

Apical fibrosis Anterior uveitis Aortic regurgitation Achilles tendonitis AV node block Amyloidosis

Question 62

Inferonasal ectopia lentis is characteristic of homocystinuria

Answer 62

Superotemporal ectopia lentis a/w Marfans syndrome

Question 63

Pain on the radial side of the wrist/tenderness over the radial styloid process ?

Answer 63

De Quervain's tenosynovitis

Question 64

Mill's test is primarily used to diagnose lateral epicondylitis, or tennis elbow, which presents as pain over the lateral epicondyle of the elbow rather than at the wrist

Answer 64

Spurling’s test is designed to evaluate cervical radiculopathy resulting from nerve root compression within the cervical spine. During this examination, head tilting towards the affected side combined with applied downward pressure may reproduce radicular arm sensations if positive for nerve root irritation.

Question 66

Acne vulgaris in pregnancy - use oral erythromycin if treatment needed

Question 67

Z score

Answer 67

The Z-score is a measure of bone mineral density compared to the average of those of the same age, ethnicity, and gender. The Z-score is not used to diagnose osteoporosis, but is still useful in males under the age of 50 or premenopausal women, as a score of less than -2 suggests bone mineral density below the expected range.

Question 68

Urinary porphobilinogen

Answer 68

is increased in acute intermittent porphyria (AIP), a rare metabolic disorder that is characterised by severe abdominal pain, muscle weakness, irritability, vomiting and constipation - not seen in this case.

Question 69

Urinary coproporphyrin is

Answer 69

its excretion is increased in patients with Dubin-Johnson syndrome to a greater degree than in patients with other hepatobiliary disorders.

Question 70

Urinary uroporphyrin

Answer 70

levels are high in porphyria cutanea tarda, which occurs due to uroporphyrin decarboxylase deficiency. Porphyria cutanea tarda is a rare disorder characterised by painful, blistering skin lesions that develop on sun-exposed skin,

Question 71

Urinary delta-aminolevulinic acid (ALA) excretion

Answer 71

will also be raised in urine samples from individuals with AIP, but the measurement is less widely available and is not essential

Question 72

Medications that may worsen osteoporosis (other than glucocorticoids):

Answer 72

SSRIs antiepileptics proton pump inhibitors glitazones long term heparin therapy aromatase inhibitors e.g. anastrozole

Question 72

Sarcoidosis stage according to Chest X-ray

Answer 72

Sarcoidosis CXR 1 = BHL 2 = BHL + infiltrates 3 = infiltrates 4 = fibrosis

Question 73

Transfer factor raised: asthma, haemorrhage, left-to-right shunts, polycythaemia low: everything else

Question 74

Indications for corticosteroid treatment for sarcoidosis are:

Answer 74

parenchymal lung disease, uveitis, hypercalcaemia and neurological or cardiac involvement

Question 75

Nicotinic receptor partial agonist

Answer 75

the mechanism of varenicline, another medication used in smoking cessation. Varenicline works by partially activating the nicotinic acetylcholine receptor, reducing cravings for nicotine and withdrawal symptoms.

Question 76

Smoking and pregnancy

Answer 76

All women who smoke, or have stopped smoking within the last 2 weeks, or those with a CO reading of 7 ppm or above should be referred to NHS Stop Smoking Services.

Question 77

Earliest change in RA X ray

Answer 77

loss of joint space juxta-articular osteoporosis Later Early x-ray findings soft-tissue swelling periarticular erosions subluxation

Question 78

Ehlers-Danlos syndrome is most commonly associated with a defect in

Answer 78

type III collagen

Question 79

Azathioprine

Answer 79

increased risk of non-melanoma skin cancer Azathioprine is metabolised to the active compound mercaptopurine, a purine analogue that inhibits purine synthesis. A thiopurine methyltransferase (TPMT) test may be needed to look for individuals prone to azathioprine toxicity. Azathioprine is generally considered safe to use in pregnancy.

Question 80

Good prognosis in sarcoidosis

Answer 80

good prognosis include HLA B8 and Lofgren's syndrome (bilateral hilar lymphadenopathy, erythema nodosum, polyarthritis and fever)

Question 81

Factors associated with poor prognosis in sarcoidosis

Answer 81

insidious onset, symptoms > 6 months absence of erythema nodosum extrapulmonary manifestations: e.g. lupus pernio, splenomegaly CXR: stage III-IV features black African or African-Caribbean ethnicity

Question 82

Dyspnoea, obstructive pattern on spirometry in patient with rheumatoid → ?

Answer 82

bronchiolitis obliterans

Question 83

NSAIDs should be avoided in elderly patients taking warfarin due to the risk of a life-threatening gastrointestinal haemorrhage.

Question 84

IL-1 inhibitors are increasingly used in medicine. Examples include: anakinra IL-1 receptor antagonist used in the management of rheumatoid arthritis

Answer 84

canakinumab monoclonal antibody targeted at IL-1 beta used systemic juvenile idiopathic arthritis and adult-onset Still's disease

Question 85

it is a disorder of fatty acid oxidation. Symptoms occur after prolonged fasting or sustained exercise when fat metabolism becomes the primary energy source. episodes are triggered by long-term energy demands

Answer 85

Carnitine palmitoyltransferase II deficiency

Question 86

this glycolytic enzyme deficiency impairs energy production in both skeletal muscle and erythrocytes. While patients may experience muscle cramps during exercise, they also present with chronic haemolytic anaemia

Answer 86

Aldolase A deficiency

Question 87

glycogen accumulation in lysosomes, causing Pompe disease. This condition typically presents with progressive muscle weakness, respiratory insufficiency, and cardiomyopathy

Answer 87

Acid maltase deficiency

Question 88

It results in muscle pain, fatigue, and exercise intolerance during sustained, submaximal activity. Haemolysis is also a feature due to red blood cell involvement

Answer 88

Phosphofructokinase deficiency causes Tarui disease, another glycolytic pathway disorder.

Question 89

Repeated cramping, rhabdomyolysis and myoglobinuria after short bouts of exercise can point towards

Answer 89

McArdle's disease

Question 90

tEnnis elbow = pain worse on wrist Extension

Answer 90

golF elbow = pain worse on wrist Flexion

Question 91

Anti-ribonuclear protein (anti-RNP) =

Answer 91

mixed connective tissue disease

Question 92

Radial tunnel syndrome presents similarly to lateral epicondylitis however pain is typically distal to the epicondyle and worse on elbow extension/forearm pronation

Question 93

Undifferentiated connective tissue disease refers to syndromes in which features of one or more 'classical' connective tissue disease may be present, but do not meet diagnostic criteria. Anti-U1 RNP is absent.