The Book of Rare Diseasesfrom the Vermont Synergy Initiative

Antiphospholipid syndrome (APS)

Antiphospholipid syndrome: the immune system makes antibodies that make the blood clot too easily. Clots in veins or arteries, and repeated pregnancy loss, are the hallmarks. It is often found only after a clot or a miscarriage that could have been the warning.

This chapter is still a draft — we are still writing it, and your thoughts and comments are very welcome while we do.

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The classic presentations are unexplained clots and recurrent miscarriage. The clot may be in a leg vein, or a lung, or a stroke in someone young. Other clues: low platelets, a lacy purple skin mottling called livedo, and migraine. It can stand alone or travel with lupus.

Three antibody tests carry it: lupus anticoagulant, anticardiolipin, and anti-β₂-glycoprotein I. Strong evidence

The catch: they must be positive twice, at least 12 weeks apart. A single result is not enough. And testing during an acute clot, or on a blood thinner, can mislead. Once confirmed, treatment is long-term anticoagulation.

Questions to bring

Copy these, or read them out. They fit in a short visit.

  1. Given an unexplained clot or pregnancy loss, have the antiphospholipid antibodies been checked — and repeated after 12 weeks?
  2. Does the timing affect the result, such as a clot or a blood thinner?

The short version

Getting ahead of it
After an unexplained clot or pregnancy loss, get tested — and, if positive, stay anticoagulated as advised.
Your testing regime
Lupus anticoagulant + anticardiolipin + anti-β₂-GPI, repeated 12 weeks apart; avoid testing mid-clot if possible.
What they don’t tell you
One positive test is not enough, and testing on a blood thinner or during a clot can mislead.
What it can spawn
Stroke, DVT and pulmonary embolism, recurrent miscarriage; rarely a rapid multi-organ form.
What it’s confused with
“Unprovoked” clots and “unexplained” miscarriage that were never worked up.

General clinical literature; not a diagnosis; nothing here comes from any individual’s medical record.

Also asked as: years of odd symptoms that nobody has joined up · “repeated miscarriages and clots” · “white spots on my MRI but not MS” · “negative ANA but still told it is autoimmune” · “told again that it is idiopathic” · “odd symptoms in four different specialties and no one joins them up” · “clots that keep coming back” · “antiphospholipid syndrome” · “APS” · “I have APS” (antiphospholipid syndrome)