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Diseases

Genetic and Rare Diseases Information Center (GARD)

Antiphospholipid syndrome


Other Names for this Disease
  • Antiphospholipid antibody syndrome
  • APS
  • Familial antiphospholipid syndrome
  • Hughes syndrome
  • Lupus anticoagulant, familial
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Overview

Antiphospholipid syndrome is an autoimmune disorder. It is characterized by It is characterized by the presence in the blood of at least one type of an high levels of multiple different antibodies that are associated with clots in the arteries and veins. Symptoms vary and can include blood clots, miscarriage, rash, chronic headaches, dementia, and seizures.[1] Antiphospholipid antibody syndrome (APS) occurs if the body's immune system makes antibodies (proteins) that attack phospholipids. Phospholipids are a type of fat found in all living cells and cell membranes, including blood cells and the lining of blood vessels. What causes the immune system to make antibodies against phospholipids isn't known. Most cases of antiphospholipid syndrome are sporadic, which means they occur in people with no history of the disorder in their family. Rarely, the condition has been reported to run in families; however, it does not have a clear pattern of inheritance. Multiple genetic and environmental factors likely play a part in determining the risk of developing antiphospholipid syndrome. The most commonly accepted explanation for the development of aPL is that they occur in susceptible individuals following incidental exposure to infectious agents. Antiphospholipid antibody syndrome (APS) has no cure. However, medicines can help prevent complications. The goals of treatment are to prevent blood clots from forming and keep existing clots from getting larger.[2][3][4]
Last updated: 8/14/2015

References

  1. NINDS Antiphospholipid Syndrome Information Page. National Institute of Neurological Disorders and Stroke. June 30, 2015; http://www.ninds.nih.gov/disorders/antiphosphlipid/antiphospholipid.htm. Accessed 8/14/2015.
  2. How Is Antiphospholipid Antibody Syndrome Diagnosed?. National Heart, Lung and Blood Institute. May 17, 2012; : http://www.nhlbi.nih.gov/health/health-topics/topics/aps/diagnosis. Accessed 8/14/2015.
  3. Who Is at Risk for Antiphospholipid Antibody Syndrome?. National Heart, Lung and Blood Institute. May 17, 2012; http://www.nhlbi.nih.gov/health/health-topics/topics/aps/atrisk. Accessed 8/14/2015.
  4. Schur PH. Pathogenesis of the antiphospholipid syndrome. UpToDate. September 18, 2014; http://www.uptodate.com/contents/pathogenesis-of-the-antiphospholipid-syndrome. Accessed 8/14/2015.
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Basic Information

  • Genetics Home Reference contains information on Antiphospholipid syndrome. This website is maintained by the National Library of Medicine.
  • The Lupus Foundation of America has an information page on lupus and antiphospholipid antibodies. Click on Lupus Foundation of America to view the information page.
  • The March of Dimes has an information page on thrombophilia and pregnancy. Click on March of Dimes to view the information page.
  • The MayoClinic.com has a information page on antiphospholipid syndrome. Click on MayoClinic.com to view the information page.
  • The National Human Genome Research Institute's (NHGRI) mission encompasses a broad range of studies aimed at understanding the structure and function of the human genome and its role in health and disease. Click on the link to view the information page on this topic.
  • The National Institute of Neurological Disorders and Stroke (NINDS) collects and disseminates research information related to neurological disorders. Click on the link to view information on this topic.
  • The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.

In Depth Information

  • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
  • MeSH® (Medical Subject Headings) is a terminology tool used by the National Library of Medicine. Click on the link to view information on this topic.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs.  Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Antiphospholipid syndrome. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • Antiphospholipid antibody syndrome
  • APS
  • Familial antiphospholipid syndrome
  • Hughes syndrome
  • Lupus anticoagulant, familial
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.