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, and 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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Unexplained clots — a leg vein, a lung, a stroke in someone young — and recurrent miscarriage are the classic presentations. Other clues: low platelets, a lacy purple skin mottling (livedo), 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 (clot, blood thinner) affect the result?

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)