Auto antibodies Flashcards
What autoantibody is associated with cutaneous systemic sclerosis?
Anti-centromere
What antibodies are associated with SLE?
Anti-dsDNA
What antibody is associated with diffse systemic sclerosis?
Anti-Scl-70
What is Anti-CCP antibody typically associated with?
Rheumatoid Arthritis
What antibody is associated with primary biliary cirrhosis (PBC)
AMA
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?
This is limited cutaneous systemic sclerosis and is associated with anti-centromere antibody.
If someone presented with diffuse scleroderma involving the trunk and proximal limbs what autoantibody might you expect to find?
Anti-Scl-70 this is diffuse systemic sclerosis
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?
Anti-dsDNA - this is SLE
If someone was initially asymptomatic, but then presented with fatigue, prurits and jaundice what autoantibody might you expect to find?
AMA this is associated with primary biliary cirrhosis
What changes on chest xray might be seen in someone with ankylosing spondylitis?
Apical fibrosis
What gene is associated with ankylosing spondylitis?
HLA-B27 (but not very sensitive or specific)
How is ankylosing spondylitis investigated?
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
How is ankylosing spondilitis managed?
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)
Loss of hearing (due to cranial nerve entrapment) and bone pain with raised ALP whilst Calcium and phosphate are normal
Think Paget’s disease which typically effects the skull, spine/pelves and long bones of the lower extermities
What are the complications of paget’s disease?
Deafness due to cranial nerve entrapment, bone sarcome (1% if affected for > 10 years), fractures, skull thickening, high output cardiac failure
what are the indications for treating pagets disease?
bone pain, skull or long bone deformity, fracture (especially periarticular)
What is Wilson’s disease?
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)
Penicillamine is a chelating agent used to treat Wilson’s disease, what side effects can it have in those with wilson’s disease?
General - rashes, taste disturbances and proteinuria. Membranous glomerulonephropathy
What are some of the typical features of marfan’s syndrome?
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)
What are the potential differential diagnoses for polyarthritis?
Differential diagnosis rheumatoid arthritis SLE seronegative spondyloarthropathies Henoch-Schonlein purpura sarcoidosis tuberculosis pseudogout viral infection: EBV, HIV, hepatitis, mumps, rubella
How does Behcets disease present
Vasculitis. Mouth ulcers, genital ulcers, eye pain and joint pain
If a previously moderate risk bisphosphonate taker has been on them orally for over 5 years what is a prudent step to consider?
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
How does Polyarteritis nodosa present?
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
What do xray findings of plantar spur and pencil and cup deformity indicate?
Psoriatic arthritis
How does osteoarthritis present on x-ray?
Loss of joint space, osteophytes, subchondral sclerosis, subchondral cysts (LOSS)
How does rheumatoid arthritis present
Loss of joint space, Erosions, soft bones and soft tissue swelling (LESS)
What does sacroiliitis on xray suggest?
Ankylosing spondylitis
How is Rheumatoid arthritis managed?
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.
When are TNF-inhibitors used in RA?
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
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
ankylosing spondylitis (AS)
how is Ankylosing spondylitis managed?
First line is NSAIDs then TNF-alpha blockers such as infliximab and etanercept
presentation of women with multiple miscarriages, recurrent DVT/PEs. Purpuric rash, splinter haemorrhages and livedo reticularis is a typical presentation of what?
Anti-phospholipid syndrome.
What antibodies are associated with Anti-phospholipid syndrome?
Lupus anticoagulant (LA) and anti-cardiolipin antibodies (aCL)
What is the antibody test for polymyositis?
anti-jo-1 and anti-mi-2 antibodies
What is the antibody test for Sjogren’s syndrome?
Anti-Ro and anti-La antibodies
What happens to APTT in antiphospholipid syndrome?
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.
What are the features of Antiphospholipd syndrome?
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)
How is Antiphospholipid syndrome managed?
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
