Antiphospholipid syndrome

Question 1

Define:

Answer 1

Characterised by antiphospholipid antibodies in the plasma and CLOT (coagulation defect = venous and arterial thromboses, Livedo reticularis , obstetrics (recurrent miscarriages) and thrombocytopenia)

Question 2

Aetiology/risk factors:

Answer 2

APL are directed to the plasma proteins bound to anionic phospholipids.

Usually primary by 20-30% are associated with SLE (can occur in those that are vulnerable or after an infection)

Needs a second environment hit not enough to have just genetics

Question 3

Epidemiology:

Answer 3

More common in young women

27% of women with over 2 miscarriages have APS

Question 4

Symptoms:

Answer 4

Recurrent miscarriages 
Headaches/ migraines 
Hx of arterial thromboses (stroke)
Hx of venous thromboses (DVT or PE)
Chorea 
Epilepsy

Question 5

Signs:

Answer 5

Livedo reticularis (mottled vascular pattern)
Signs of SLE - malar flush, discoid lesions and photosensitivity
Signs of valvular disease

Question 6

Investigations:

Answer 6

FBC - low platelets
ESR - normal
Increased APTT (clotting screen)
U+Es - APL nephropathy

ELISA or lupus anticoagulant assays to look for the antibodies.

Antibodies present: lupus anticoagulant, anti-cardiolupin, antiphospholipid, anti b2-microglobulin