Connective tissue disease Flashcards
What is anti-phospholipid syndrome?
An autoimmune, hypercoagulative state caused by anti-phospholipid antibodies
How might anti-phospholipid syndrome present in young people?
Recurrent foetal loss
Recurrent thrombosis
Other than recurrent thrombosis and foetal loss, what are some of the symptoms of anti-phospholipid syndrome?
Migraine
Livedo reticularis
Transverse myelitis
Thrombocytopenia
Libman-sacks endocarditis
What is the treatment for anti-phospholipid syndrome?
Life long anticoagulation
Aspirin and heparin during pregnancy
What is catastrophic anti-phospholipid syndrome?
An acute biologial event causing occlusion of the small vessels of various organs resulting in thrombotic microangiopathy, multiple organ thrombosis, and in some cases tissue necrosis
What are the antibodies involved in anti-phospholipid syndrome?
Anti-phospholipid antibody
Anti-beta2-glycoprotein
Lupus anticoagulant
What is Sjogren’s syndrome?
An autoimmune condition involving lymphocyte infiltration of exocrine glands causing xerostomia (dry mouth) and keratoconjunctivitis sicca (dry eyes)
Which test can be done to assess dry eyes in Sjogren’s syndrome?
Schirmers test - a strip of paper is put in the lower lid of the eye and left to assess whether the eyes are producing enough tears
>10mm of moisture in 5 mins is a negative test and is condsidered normal
What are some other manifestations of Sjogren’s syndrome?
Fatigue
Arthralgia
Raynauds
Salivary swelling
Lymphadenopathy
Skin and vaginal dryness
Interstitial lung disease
Neuropathy
Lymphoma (x40 risk)
Renal tubular acidosis
Neonatal complete heart block (anti-Ro)
At what age are patients most commonly affected with Sjogren’s?
Ages 40-60 & female
What treatment is there for Sjogren’s syndrome?
Eye drops, punctal plugs
Saliva replacement
Pilocarpine
Hydroxychloroquine
Steroids and immunosuppression
Attention to cardiovascular risk factors
What is systemic sclerosis/scleroderma?
An autoimmune condition characterised by thickening of the skin by accumulation of collagen and injury to the small arteries
What complication is involved in up to 30% of cases of scleroderma?
Pulmonary hypertension
What are the symptoms in CREST describing limited scleroderma?
Calcinosis (deposition of calcium in tissue)
Raynaud’s
Esophageal dysmotilty
Sclerodactyly (localised thickening or tightness in skin of fingers or toes)
Telangiectasia (e.g. spider naevi)
What antibodies are involved in limited scleroderma?
Anti-centromere antibodies
What antibodies are involved in diffuse scleroderma?
Anti-Scl-70 antibodies
What are the criteria for diagnosis of scleroderma?
Skin changes within 1 year of Raynaud’s
Truncal and acral skin involvement
Early significant organ involvement (kidneys, lungs, gut, muscle, joints, heart)
Anti-Scl-70 antibodies
What are some of the GI manifestations of systemic sclerosis?
Oesophageal hypomobility
Small bowel hypomobility, bacterial overgrowth
Pancreatic insufficiency
Rectal hypomobility
What are some of the respiratory manifestations of systemic sclerosis?
Interstitial lung disease
Pulmonary hypertension
Chest wall restriction
What are some of the renal manifestations of systemic sclerosis?
Hypertensive renal crisis
Ischaemic renal crisis
What are some of the cardiovascular manifestations of systemic sclerosis?
Raynaud’s with digital ulceration
Atherosclerotic disease
Hypertensive cardiomyopathy
What is the peak age of presentation with scleroderma?
25-55
What are the treatments for scleroderma?
Calcium channel blockers
Prostacyclin (Iloprost)
ACE inhibitors
Prednisolone
Immunosuppression
Bosentan, Sildenafil
What are the major criteria for diagnosis mixed connective tissue disease?
Severe myositis
Pulmonary involvement
Raynaud’s phenomenon
Swollen hands observed
Sclerodactyly
Anti-U1-RNP >1:10,000.
