Antiphospholipid syndrome

Question 1

What is Antiphospholipid syndrome?

Answer 1

Presence of antiphospholipid antibodies (APL) in the plasma
Venous + arterial thromboses
Recurrent foetal loss
Thrombocytopenia.

Question 2

Describe the aetiology of Antiphospholipid syndrome

Answer 2

UNKNOWN
Usually primary disease but 20-30% associated with SLE.
APL are directed against plasma proteins bound to anionic phospholipids
APL may develop in susceptible individuals e.g. SLE pts, following exposure to infectious agents.
Once APL is present, a ‘2nd hit’ is required for the development of the syndrome.

Question 3

Describe the epidemiology of Antiphospholipid syndrome

Answer 3

Young females

Accounts for 27% of females with >2 miscarriages

Question 4

List 3 symptoms of Antiphospholipid syndrome

Answer 4

Headaches, migraines
Chorea
Epilepsy

Question 5

What may be present in the history of someone with Antiphospholipid syndrome?

Answer 5

Recurrent miscarriages
Hx of arterial thromboses; stroke
Hx of venous thromboses; DVT, PE
Hx of SLE/ other AI rheumatological disorders

Question 6

What is a characteristic signs of Antiphospholipid syndrome?

Answer 6

Livedo reticularis: mottled purplish discolouration (blanching or non-blanching)

Question 7

Signs of which other conditions may be seen in Antiphospholipid syndrome?

Answer 7

SLE: malar flush, discoid lesions, photosensitivity, arthralgia
Valvular heart disease: cardiac murmur
Thrombocytopenia: petechia, mucosal bleeding

Question 8

What is seen on a blood test in Antiphospholipid syndrome?

Answer 8

Low platelets
ESR normal
U+Es: high urea + creatinine in APL nephropathy
Clotting screen: high APTT

Question 9

What investigations demonstrates presence of Antiphospholipid syndrome?

Answer 9

ELISA testing

lupus anticoagulant assays

Question 10

What antibodies may be present in Antiphospholipid syndrome?

Answer 10

Lupus anticoagulant
Anti-cardiolupin
Antiphospholipid
Anti b2-microglobulin
ANA (elevated in SLE).

Question 11

What investigations may be considered in Antiphospholipid syndrome?

Answer 11

Venous doppler US/ venography: identify any clots

CT angio of chest: identify PE

Question 12

What is Livedo Reticularis caused by?

Answer 12

Reduced blood flow to the skin
Can be normal; esp in babies + children
Can be a concerning sign e.g. if due severe sepsis or DIC both of which have a high morbidity + mortality.
Can be caused in various vasculitis AI conditions (dermatomyositis, RA)
May be drug related