Auto antibodies

Question 1

What autoantibody is associated with cutaneous systemic sclerosis?

Answer 1

Anti-centromere

Question 2

What antibodies are associated with SLE?

Answer 2

Anti-dsDNA

Question 3

What antibody is associated with diffse systemic sclerosis?

Answer 3

Anti-Scl-70

Question 4

What is Anti-CCP antibody typically associated with?

Answer 4

Rheumatoid Arthritis

Question 5

What antibody is associated with primary biliary cirrhosis (PBC)

Answer 5

AMA

Question 6

If someone presented with taught skin on her hands and fingers, with raynaud’s phenomenon on their fingers, difficulty swallowing both solids and liquids (ie scleroderma limited to distal extremities, but with face involved) what autoantibody might one expect to find?

Answer 6

This is limited cutaneous systemic sclerosis and is associated with anti-centromere antibody.

Question 7

If someone presented with diffuse scleroderma involving the trunk and proximal limbs what autoantibody might you expect to find?

Answer 7

Anti-Scl-70 this is diffuse systemic sclerosis

Question 8

If someone presented with diffuse non-specific symptoms such as fatigue, fever, oral ulcers, joint pain and a rash what autoantibodies might you expect to find?

Answer 8

Anti-dsDNA - this is SLE

Question 9

If someone was initially asymptomatic, but then presented with fatigue, prurits and jaundice what autoantibody might you expect to find?

Answer 9

AMA this is associated with primary biliary cirrhosis

Question 10

What changes on chest xray might be seen in someone with ankylosing spondylitis?

Answer 10

Apical fibrosis

Question 11

What gene is associated with ankylosing spondylitis?

Answer 11

HLA-B27 (but not very sensitive or specific)

Question 12

How is ankylosing spondylitis investigated?

Answer 12

x-ray of the sacroiliac joints:
Sacroiliitis - subchondral erosions, sclerosis
Squaring of the lumbar vertebrae
Bamboo spine (late and uncommon)
Syndesmophytes: ossification of outer fibres of annulus fibrosus
Chest x-ray: apical fibrosis
Spirometry may show a restrictive defect

Question 13

How is ankylosing spondilitis managed?

Answer 13

advise regular exercise - e.g. swimming
NSAIS first line
physiotherapy
If peripheral joint involvement sulphasalzine can be used. Anti TNF therapy in high disease activity (etanercept and adalimumab)

Question 14

Loss of hearing (due to cranial nerve entrapment) and bone pain with raised ALP whilst Calcium and phosphate are normal

Answer 14

Think Paget’s disease which typically effects the skull, spine/pelves and long bones of the lower extermities

Question 15

What are the complications of paget’s disease?

Answer 15

Deafness due to cranial nerve entrapment, bone sarcome (1% if affected for > 10 years), fractures, skull thickening, high output cardiac failure

Question 16

what are the indications for treating pagets disease?

Answer 16

bone pain, skull or long bone deformity, fracture (especially periarticular)

Question 17

What is Wilson’s disease?

Answer 17

Genetic disorder (autosomal recessive) causing copper poisoning such that it accumulates in the liver (liver failure with vomiting, weakness, fluid build up in the abdomen, swelling of legs, yellowish skin and itchiness), Brain (tremors, personality changes, anxiety) and eyes (Kayser-fleischer rings)

Question 18

Penicillamine is a chelating agent used to treat Wilson’s disease, what side effects can it have in those with wilson’s disease?

Answer 18

General - rashes, taste disturbances and proteinuria. Membranous glomerulonephropathy

Question 19

What are some of the typical features of marfan’s syndrome?

Answer 19

Marfan’s syndrome is autosomal dominant (chromosome that codes for the protein fibrillin-1).Features
tall stature with arm span to height ratio > 1.05
high-arched palate
arachnodactyly
pectus excavatum
pes planus
scoliosis of > 20 degrees
heart: dilation of the aortic sinuses (seen in 90%) which may lead to aortic aneurysm, aortic dissection, aortic regurgitation, mitral valve prolapse (75%),
lungs: repeated pneumothoraces
eyes: upwards lens dislocation (superotemporal ectopia lentis), blue sclera, myopia
dural ectasia (ballooning of the dural sac at the lumbosacral level)

Question 20

What are the potential differential diagnoses for polyarthritis?

Answer 20

Differential diagnosis
rheumatoid arthritis
SLE
seronegative spondyloarthropathies
Henoch-Schonlein purpura
sarcoidosis
tuberculosis
pseudogout
viral infection: EBV, HIV, hepatitis, mumps, rubella

Question 21

How does Behcets disease present

Answer 21

Vasculitis. Mouth ulcers, genital ulcers, eye pain and joint pain

Question 22

If a previously moderate risk bisphosphonate taker has been on them orally for over 5 years what is a prudent step to consider?

Answer 22

After a five year period for oral bisphosphonates (three years for IV zoledronate), treatment should be re-assessed for ongoing treatment, with an updated FRAX score and DEXA scan.

This guidance separates patients into high and low risk groups. To fall into the high risk group, one of the following must be true:
Age >75
Glucocorticoid therapy
Previous hip/vertebral fractures
Further fractures on treatment
High risk on FRAX scoring
T score

Question 23

How does Polyarteritis nodosa present?

Answer 23

Polyarteritis nodosa (PAN) is a vasculitis affecting medium-sized arteries with necrotizing inflammation leading to aneurysm formation. PAN is more common in middle-aged men and is associated with hepatitis B infection

Features
fever, malaise, arthralgia
weight loss
hypertension
mononeuritis multiplex, sensorimotor polyneuropathy
testicular pain
livedo reticularis
haematuria, renal failure
perinuclear-antineutrophil cytoplasmic antibodies (ANCA) are found in around 20% of patients with ‘classic’ PAN
hepatitis B serology positive in 30% of patients

Question 24

What do xray findings of plantar spur and pencil and cup deformity indicate?

Answer 24

Psoriatic arthritis

Question 25

How does osteoarthritis present on x-ray?

Answer 25

Loss of joint space, osteophytes, subchondral sclerosis, subchondral cysts (LOSS)

Question 26

How does rheumatoid arthritis present

Answer 26

Loss of joint space, Erosions, soft bones and soft tissue swelling (LESS)

Question 27

What does sacroiliitis on xray suggest?

Answer 27

Ankylosing spondylitis

Question 28

How is Rheumatoid arthritis managed?

Answer 28

Disease modifying drugs should be introduced as quickly as possible. DMARD monotherapy with or without bridging prednisolone is recommended> Methotrexate is most commonly used (requires careful monitoring of FBC &LFTs and risk of pneumonitis), Sulfasalazine, leflunomide and hydroychloroquine area all less commonly used DMARDs.

Question 29

When are TNF-inhibitors used in RA?

Answer 29

the current indication for a TNF-inhibitor is an inadequate response to at least two DMARDs including methotrexate

etanercept: recombinant human protein, acts as a decoy receptor for TNF-α, subcutaneous administration, can cause demyelination, risks include reactivation of tuberculosis
infliximab: monoclonal antibody, binds to TNF-α and prevents it from binding with TNF receptors, intravenous administration, risks include reactivation of tuberculosis
adalimumab: monoclonal antibody, subcutaneous administration

Question 30

Low back pain and stiffness, with insidious onset, worse in the morning and improves with exercise, pain at night which improves on getting up. Male in 20s-30s and has sensitivity to light (e.g. acute iritis) is typical of

Answer 30

ankylosing spondylitis (AS)

Question 31

how is Ankylosing spondylitis managed?

Answer 31

First line is NSAIDs then TNF-alpha blockers such as infliximab and etanercept

Question 32

presentation of women with multiple miscarriages, recurrent DVT/PEs. Purpuric rash, splinter haemorrhages and livedo reticularis is a typical presentation of what?

Answer 32

Anti-phospholipid syndrome.

Question 33

What antibodies are associated with Anti-phospholipid syndrome?

Answer 33

Lupus anticoagulant (LA) and anti-cardiolipin antibodies (aCL)

Question 34

What is the antibody test for polymyositis?

Answer 34

anti-jo-1 and anti-mi-2 antibodies

Question 35

What is the antibody test for Sjogren’s syndrome?

Answer 35

Anti-Ro and anti-La antibodies

Question 36

What happens to APTT in antiphospholipid syndrome?

Answer 36

Even though this condition is associated with both venous and arterial thromboses and thrombocytopenia it results in a rise in APTT as the Lupus anticoagulant (LA) antibodies react with phospholipids involved in coagulation.

Question 37

What are the features of Antiphospholipd syndrome?

Answer 37

Features
venous/arterial thrombosis
recurrent fetal loss
livedo reticularis
thrombocytopenia
prolonged APTT
other features: pre-eclampsia, pulmonary hypertension

Associations other than SLE
other autoimmune disorders
lymphoproliferative disorders
phenothiazines (rare)

Question 38

How is Antiphospholipid syndrome managed?

Answer 38

initial venous thromboembolic events: evidence currently supports use of warfarin with a target INR of 2-3 for 6 months
recurrent venous thromboembolic events: lifelong warfarin; if occurred whilst taking warfarin then increase target INR to 3-4
arterial thrombosis should be treated with lifelong warfarin with target INR 2-3