Unraveling Rare: Antiphospholipid Syndrome
July 19, 2016
Antiphospholipid Antibody Syndrome is a rare autoimmune disease mostly commonly observed in young women. Other accepted names for this disorder include antiphospholipid syndrome (or APS), lupus anticoagulant (LA) syndrome, APLS, APS, PAPS, primary antiphospholipid syndrome and Hughes syndrome. Those affected make abnormal proteins called antiphospolipid antibodies in the blood. This causes the blood to flow aberrantly and can lead to blood clots. APS can also cause problems for developing fetuses or cause miscarriage.
The exact prevalence of APS is not known but is estimated to be 2-4 percent of the population. Additionally, it is estimated that 50 percent of APS patients will have the primary form, although 10 percent will later go on to be diagnosed with an autoimmune disorder at a later date. In a recent study, it was found that 17 percent of patients with stroke and 3 percent with myocardial infarction were found to have the lupus anti-coagulant compared to 0-7 percent of controls.
What are the symptoms of APS?
- Blood clots in the legs (DVTs)
- Pulmonary embolisms (clots that have traveled to the lungs)
- Recurrent miscarriages or stillbirths
- Peripheral arterial thrombosis
- Chronic headaches
- Livedo reticularis
- Cardiovascular diseases
- Movement Disorder
- Cognitive problems
- Sudden hearing loss
This disorder is not always so easy to diagnose. A person who is found to have antiphospholipid antibodies but no signs or symptoms does not necessarily have APS. In a similar fashion, a patient with suggestive signs or symptoms but a negative antibody test is not always free of the disease either. When there are suggestive signs or symptoms, the doctor will likely order blood tests. Three APS antibodies are often tested: anticardiolipin, beta-2 glucoprotein, and lupus anticoagulant. A single test cannot test all the possible autoantibodies and that is why three need to be tested. At least one of them must be positive on two occasions tested at least 3 months apart in order to confirm the diagnosis. The likelihood of symptoms increases with a higher level of the test and a greater number of positive tests. A person may be a carrier for certain clotting proteins.
There is no specific treatment for APS. Rather, it is targeted at current clinical status and history of thrombotic events.
How is APS treated?
- First, eliminate risk factors such as the use of oral contraceptive pills and smoking.
- Treat hypertension and hyperlipidemia
- Properly manage any underlying autoimmune disorder
- If a patient needs hospitalization or surgery, medication should be given for the prevention of clots. Low dose aspirin is widely used in this setting. In patients allergic to aspirin, clopidogrel has been used
- Statins should be considered to use in patients with hyperlipidemia
- If a clot is present, full anti-coagulation should be done using IV or subcutaneous heparin followed by therapy with warfarin.
- Women with APS during prior pregnancies should preventative anti-coagulation during pregnancy and for 6 weeks post-partum. Usually subcutaneous heparin is used.
- In patients with catastrophic APS, plasma exchange may be needed
There are some people more likely to develop APS than others. For example, certain infections are pre-disposing factors. These include HIV, syphillus, hepatitis C and Lyme disease. Certain medications can also be risk factors for developing APS and these include hydralazine, quinidine, Dilantin and amoxicillin. Additionally, genetic factors seem to play a role.
Some patients will carry the antibody but never develop any symptoms. However, the risk of clots can increase during pregnancy, periods of immobility, undergoing surgery, smoking, taking birth control pills, and having elevated lipid levels.
There are some investigational studies being conducted.
Information on current clinical trials is posted on the Internet at www.clinicaltrials.gov. All studies receiving U.S. Government funding, and some supported by private industry, are posted on this government web site.
For information about clinical trials being conducted at the NIH Clinical Center in Bethesda, MD, contact the NIH Patient Recruitment Office:
Tollfree: (800) 411-1222
TTY: (866) 411-1010
Email: [email protected]
For information about clinical trials sponsored by private sources, contact:
How do you think we can reduce the risk of complications from antiphospolipid sundrome?
About the Author
Dr. Linda Girgis MD, FAAFP is a family physician in South River, New Jersey. She has been in private practice since 2001. She holds board certification from the American Board of Family Medicine and is affiliated with St. Peter’s University Hospital and Raritan Bay Hospital. She teaches medical students and residents from Drexel University and other institutions. Dr. Girgis earned her medical degree from St. George’s University School of Medicine. She completed her internship and residency at Sacred Heart Hospital, through Temple University where she was recognized as intern of the year. She is a blogger for Physician’s Weekly and MedicalPractice Insider as well as a guest columnist for Medcity New, PM360 and HIT Outcomes. She has had articles published in several other media outlets. She has authored the books, “Inside Our Broken Healthcare System”, “The War on Doctors” and “The Healthcare Apocalypse.” She has been interviewed in US News and on NBC Nightly News.
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