Welcome to the Rare Classroom, a new series from Patient Worthy. Rare Classroom is designed for the curious reader who wants to get informed on some of the rarest, most mysterious diseases and conditions. There are thousands of rare diseases out there, but only a very small number of them have viable treatments and regularly make the news. This series is an opportunity to learn the basics about some of the diseases that almost no one hears much about or that we otherwise haven’t been able to report on very often.

Eyes front and ears open. Class is now in session.

The disease that we will be learning about today is:

Antiphospholipid Syndrome

Also called antiphospholipid antibody syndrome, Hughes syndrome, and anticardiolipin antibody syndrome.

What is Antiphospholipid Syndrome?

• antiphospholipid syndrome (APS) is a condition of hypercoagulation which is triggered by antiphospholipid antibodies
  • This can trigger blood clots and pregnancy complications, among other issues
• Diagnosis requires one blood clotting event or pregnancy complication and two positive blood test findings, spaced a minimum of three months apart
  • These tests must detect anticardiolipin antibodies, lupus anticoagulant, or anti-apolipoprotein antibodies
• APS can occur on its own (primary) or alongside other autoimmune disorders (secondary)
• The disease was first scientifically described in 1983, in a paper from E. Nigel Harris and Aziz Gharavi
  • APS was originally named Hughes syndrome in recognition of the rheumatologist Graham R.V. Hughes, who organized the research team

How Do You Get it?

• Risk factors for APS include:
  • Being female
  • Being of Black, Latino, Native American, or Asian origin
  • Certain genetic markers, including HLA-DR4, HLA-DR7, and HLA-DRw53
  • The presence of other autoimmune disorders, most commonly lupus
• Overall, the cause of APS isn’t clear, but genetics is generally believed to play a critical role

What Are the Symptoms?

• The primary symptoms of antiphospholipid syndrome (APS) include:
  • Arterial or venous blood clots
    • These can appear throughout the body in any organ system
    • The most common venous clot is deep vein thrombosis affecting the legs
    • The most common arterial event is stroke
  • Pregnancy complications, which can include:
    • Preterm birth
    • Recurrent miscarriage
    • Placental infarction
    • Intrauterine growth restriction
    • Miscarriages, particularly in mothers with lupus, an autoimmune disease that often occurs with APS
  • Heart valve disease
  • Livedo reticularis
  • Low platelet count
  • APS can also result in developmental or intellectual disabilities in newborns

How Is It Treated?

• Treatment is necessary only if symptoms are present
• Anticoagulants are a critical component of treatment
  • Warfarin is most widely used, though direct-acting oral anticoagulants may be an alternative in some cases; however, these are not indicated in ‘triple positive’ patients that have all three antibodies
  • Low dose aspirin and low molecular weight heparin are used for pregnant women
• Plasmapheresis may be used in cases that don’t respond to the above therapies
• Outcomes depend on whether the case responds to anticoagulant therapy; recurrent blood clots occur in around 29% of patients despite treatment

Where Can I Learn More???

• Check out our cornerstone on this disease here.
• Learn more about this condition from the APS Foundation of America.