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Diseases

Genetic and Rare Diseases Information Center (GARD)

Antiphospholipid syndrome


Other Names for this Disease
  • Familial antiphospholipid syndrome
  • Antiphospholipid antibody syndrome
  • Lupus anticoagulant, familial
  • APS
  • Hughes syndrome
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Overview

Antiphospholipid syndrome (APS) is an autoimmune disorder. Signs and symptoms vary, but may include blood clots, miscarriage, rash, chronic headaches, dementia, and seizures.[1] APS occurs when your body's immune system makes antibodies that attack phospholipids. Phospholipids are a type of fat found in all living cells, including blood cells and the lining of blood vessels. Most cases of APS occur in people with no family history of the disorder, however there are rare cases of APS clustering in a family. A widely accepted explanation for APS is that it is caused by a combination of gene mutations (making one more susceptible to APS) and an environmental exposure (such as to a virus). Currently there is not a cure for APS. The goal of treatment is to prevent blood clots from forming and to keep existing clots from getting larger.[2][3][4]
Last updated: 5/25/2016

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; https://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.
  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • 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
  • Familial antiphospholipid syndrome
  • Antiphospholipid antibody syndrome
  • Lupus anticoagulant, familial
  • APS
  • Hughes syndrome
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.