What is Antiphospholipid Antibody Syndrome?

Antiphospholipid Antibody Syndrome or APS is an autoimmune disorder in which the body recognizes certain normal components of blood and/or cell membranes as foreign substances and produces antibodies against them. Patients with these antibodies may experience blood clots, including heart attacks and strokes, and miscarriages. APS may occur in people with systemic lupus erythematosus, other autoimmune diseases, or in otherwise healthy individuals.

APS is also known as APLS, APLA, Hughes Syndrome or "Sticky Blood."

APS is an Autoimmune Disease

One way in which our immune system fights infections is by making antibodies.  Antibodies are proteins in the blood and body fluids that bind to foreign invaders like bacteria and viruses and help the immune system destroy and remove them.  Sometimes the immune system doesn’t function properly and makes antibodies against normal organs and tissues in the body.  These self-reactive antibodies are called autoantibodies.  The autoantibodies in APS were originally thought to recognize that recognize certain phospholipids, fatty molecules that make up part of normal cell membranes, hence the name “antiphospholipid” antibodies.  It is now known that most of the autoantibodies in APS patients actually recognize certain blood proteins that bind to phospholipids, not the phospholipids themselves.  Two blood proteins that are major targets of antiphospholipid antibodies are b2-glycoprotein I and prothrombin.

APS: The Statistics

  • 1-5% of the general population is believed to have APS.
  • 15-20% of all cases of blood clots in large veins (deep vein thrombosis), including blood clots that go to the lungs (pulmonary embolism) are due to APS.
  • 10-25% of women with recurrent miscarriages have APS.
  • One third of strokes occurring in younger people (under the age of 50) are due to APS.
  • APS is a major women’s health issue: 75-90% of those affected by APS are women.
  • 40-50% of patients with lupus also have APS.

How is APS Diagnosed?

Physicians use a combination of clinical symptoms (see above) and laboratory tests to diagnose APS. The common blood tests for antiphospholipid antibodies are as follows:

  • Anticardiolipin antibodies (IgG, IgM, and IgA)
  • Lupus anticoagulant – a panel of blood clotting tests that may include the dilute Russel Viper venom time (dRVVT), lupus aPTT, mixing studies, and hex phase phospholipid test, platelet neutralization procedure
  • Antibodies to b2-glycoprotein I (IgG, IgM, IgA)

Panels of tests for antibodies to phospholipids other than cardiolipin are available but have not undergone the rigorous international standardization efforts applied to anticardiolipin assays.  A number of experts in the field question the usefulness of these panels, which may be quite expensive.

APS Treatment

There is no cure for APS, but there is treatment.  The treatment of choice for patients with APS who have had a blood clot is anticoagulant therapy.  This is usually successful in preventing further clots.  For women with APS and recurrent miscarriages who have not had a prior blood clot, the use of anticoagulant therapy during the pregnancy significantly increases the likelihood of a successful outcome.  Some individuals may have elevated antiphospholipid antibodies but have no clinical manifestations of the syndrome.  These individuals are usually treated with aspirin.  Aspirin reduces the risk of blood clots by making the platelets less sticky.  Studies are ongoing to determine how helpful aspirin is and whether low doses of anticoagulants might be more effective. 

In general patients who have had a blood clot (i.e., stroke, heart attack, DVT) and have persistently positive tests for antiphospholipid antibodies should be treated with anticoagulants indefinitely.  Discontinuing treatment after a fixed period of time, such as six months, may be quite dangerous in such patients.  In some patients with a history of blood clots, antiphospholipid antibodies may disappear after a certain period of time.  It is not known whether it is safe to stop anticoagulation in this situation.  Consultation with a doctor experienced in treating APS is recommended for such patients.

Women & APS

APS and Pregnancy Complications

Women with APS may have difficulties with pregnancy. During pregnancy, women are at higher risk of developing blood clots and preeclampsia.  In APS, pregnancies are thought to be lost because blood clots form in the placenta and starve the baby of nutrition.  Some women may have trouble getting pregnant, while others may experience repeated miscarriages. Blood clots that develop in the placenta can cause fetal growth problems, fetal distress, preterm birth, or pregnancy loss.

Expert care and close monitoring of the pregnancy is essential by a doctor knowledgeable about APS.  During pregnancy, physicians may recommend low doses of aspirin and daily injections of the blood thinning drug, heparin.  This gives the fetus about an 80% chance of survival, a drastic improvement from the 1980's when fetal survival was around 20%. The therapy is started at the beginning of pregnancy and halted just before delivery to reduce the risk of bleeding during childbirth. Soon after birth, the treatment resumes for about six weeks because of an increased risk for clotting in the postpartum period. In a more serious case preeclampsia may set in towards the end of pregnancy and a planned premature birth may be necessary.  Heparin can cause bone loss, so women may need to take additional calcium during pregnancy. In addition, women need to be monitored for development of a low platelet count.

Over the long term, many doctors recommend women continue to take a low dose of aspirin to reduce the risk of developing dangerous blood clots.  Many women with APS are unaware they have the condition, but it can be diagnosed with a blood test. Doctors may consider the diagnosis when a woman has repeated, unexplained pregnancy loss.

If you are trying to get pregnant or are pregnant it is very important to let your doctor know immediately. Continued use of warfarin may cause birth defects. The doctor will change your medication to a different blood thinner that is safe. Using proper treatment, women with APS have about the same risks as other women during pregnancy.

APS pregnancies are not normal. Normal pregnancy is 40 weeks. In APS, it is more common to deliver the baby between 30-35 weeks, and between 3-5 pounds. Heparin protects the placenta partially, but not fully so that the baby gets enough nutrition to survive longer in the mother. Once born, the babies do fine.

Many women who have problems with APS during pregnancy are completely fine when not pregnant. Others do go on to develop problems with clotting.  Currently there is no way of telling which women will be unlucky, until a clot actually occurs.

Infertility has also been linked to antiphospholipid antibodies. Testing for these antibodies is becoming routine in infertility clinics.

Birth Control Pills & Hormone Replacement Therapy

Women also need to avoid estrogen therapy (such as birth control or hormone replacement therapy) because estrogen predisposes patients to clotting.

Other forms of contraception should be discussed with your doctor.

Problems with Periods

Some women taking warfarin experience problems with increased bleeding. It can lead to anemia.  Tell your doctor about this problem. The doctor can recommend several options and prevent anemia. One example is: for women who have already given birth and are not actively trying to conceive, the Mirena® IUD has been successful in reducing period blood loss. As it only releases hormones to the uterus lining and is not absorbed into the blood stream, therefore, it is safe for women with APS to use.

Coping with APS

APS treatment is life long. Treatment of blood clots caused by APS outweighs the small side effects by treatment.

Most of the time people with APS will appear on the outside just as they did before they were diagnosed. Because of this, it may be difficult for family and friends to understand that you have a life threatening illness and that you just can’t do some of the things that you could before. They can’t see what is going on with your body and this can become quite frustrating on both ends.

In some cases you may want a therapist to help you adjust. Any person with a life threatening disease is at risk of being depressed. In some cases this progresses to clinical depression. It is very important to discuss your mental health with your doctor as well as your physical health.

The APS Foundation of America, Inc has a place on the Internet where you can communicate with others who have this disease. You can find our support forum at http://www.apsforum.com. You are the only one who knows exactly how you feel. Others with the same disease are very understanding and support groups of some kind can make your life much fuller. Your immediate family and children should be told about your disease, how it affects you, what it means to them as well as what you may have to expect of them in support.

The good news is: many people with proper treatment live normal full lives. Others may find their lives changed forever due to APS, but a positive attitude will mean that life can still be worthwhile and fulfilling as the correct treatment prevents further problem.

Other Sources for APS Information

  • The APS Foundation of America, Inc.
    http://www.apsfa.org
    Founded in June 2005, the APS Foundation of America, Inc. is dedicated to fostering and facilitating joint efforts in the areas of education, support, research, patient services and public awareness of Antiphospholipid Antibody Syndrome in an effective and ethical manner.
  • The APS Friends and Support Forum
    http://www.apsforum.com
    This is an open forum for people who have Antiphospholipid Antibody Syndrome, friends, family and caregivers. Please feel free to participate in any of the discussions listed, browse around or post your own new discussion. We always welcome new members and returning members with open arms!
  • Antiphospholipid Syndrome Collaborative Registry (APSCORE)
    http://www.apscore.org
    The Antiphospholipid Syndrome Collaborative Registry (APSCORE), sponsored by the National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS) and the National Center on Minority Health and Health Disparities (NCMHD). The purpose of this national registry is to collect and update clinical, demographic, and laboratory data on patients with Antiphospholipid Syndrome (APS), as well as patients with antiphospholipid antibodies who do not have other symptoms commonly associated with APS. The registry also serves as a repository of blood samples from those enrolled in the registry.
  • Rare Diseases Clinical Research Network
    http://www.rarediseasesnetwork.org
    The Rare Diseases Clinical Research Network was created to facilitate collaboration among experts in many different types of rare diseases. Our goal is to contribute to the research and treatment of rare diseases by working together to identify biomarkers for disease risk, disease severity and activity, and clinical outcome, while also encouraging development of new approaches to diagnosis, prevention, and treatment.
  • Hospital for Specialized Surgery and Barbara Volker Center for Women and Rheumatic Disease
    http://www.hss.edu/Conditions/Antiphospholipid-Syndrome
  • Thrombosis Interest Group of Canada (T.I.G.C)
    http://www.tigc.org/default.htm
    Thrombosis Interest Group of Canada (T.I.G.C) is dedicated to furthering education and research in the prevention and treatment of thrombosis.  The Thrombosis Interest Group of Canada consists of a group of 40 specialists in fields related to thrombosis who collaborate to write evidence-based or consensus-based clinical guides on the investigation, management, and diagnosis of thrombotic disorders.

How can you help?

There are many ways you can help the APS Foundation of America, Inc.  You can volunteer your time & talents such as in the area of fundraising, advocacy, finance or support group experiences, donate money or purchase APS gear through our webpage at www.apsfa.org, through our CafePress store at http://www.cafepress.com/apsfoundation or through our Zazzle store at http://www.zazzle.com/apsfoundation.  The APS Foundation of America, Inc is a non-profit organization.