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What are some of the signs, complications and conditions associated with APS?
APS usually shows up for the first time as vascular thrombosis (a blood clot in an artery or vein) or embolism (the blockage of a blood vessel caused by a clot that has moved in the blood stream from
the site where it formed to a different place in the body) or as recurrent pregnancy loss. Thrombocytopenia (a low platelet count), certain skin problems, neurological signs, heart valve disease and certain autoimmune diseases have also been noted in association with APS. Pulmonary hypertension (high blood pressure in the arteries that supply the lungs) and sensorineural hearing loss (hearing loss caused by damage to the inner ear or to the nerve pathways from the inner ear) have been noted in some individuals with APS as well. Conditions associated with APS include:
Thrombocytopenia
An association with immune thrombocytopenia (low platelets) has also been established. This occurs to varying degrees in as many as 50 percent of individuals with APS. Because platelets help the blood to clot, thrombocytopenia can sometimes cause a bleeding disorder in an otherwise healthy person. However, in APS, thrombocytopenia is usually moderate and is rarely significant enough to cause bleeding complications or to affect anticoagulant (anti-clotting) therapy.
Skin Disorders
Certain skin conditions have also been observed in APS. These include livedo reticularis (mottled discoloration of the skin), ulcers (sores) on the skin, usually on the legs, and sometimes skin necrosis (a condition in which the skin tissue dies).
percentage of patients are positive in one test but not the other. Therefore, to diagnose APS, it is standard practice for both tests to be performed. The tests are then repeated six to eight weeks later to confirm the presence of aPL antibodies. For more about the tests used to diagnose APS, go to the APS Foundation of America, Inc. [apsfa.org]
Is APS inherited?
Although APS has been reported to occur in multiple members of the same family, no clear inheritance pattern has been identified and no gene has been found to be the sole cause of this condition. One report in 1999 studied families with more than one affected member, examined possible modes of inheritance, and examined links with certain genes. In seven families, 30 out of 101 family members met diagnostic criteria for the syndrome. The data were fitted best by either a dominant (one copy of the altered gene inherited from one parent causes the condition) or codominant (features related to the condition from both parents are observed) model.
In women with moderate to high levels of aPL antibodies and a history of pregnancy loss who wish to get pregnant again, treatment is again individualized. After consulting with and obstetrician and rheumatologist and/or hematologist, women generally begin treatment with heparin and low-dose aspirin. For those individuals who have been found to have aPL antibodies but have not had any signs or symptoms of APS, low-dose aspirin is generally recommended by their doctors. If you or someone you know has been diagnosed with APS, we recommend talking with a health care provider to determine a personalized course of management.
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APS Foundation of America, Inc. [apsfa.org] A central location in the United States for Antiphospholipid Antibody Syndrome, it's related diseases and general thrombophilia information. APSLUK: An Antiphospholipid Antibody Support Group [yahoo.com] Offers support, help, understanding and information about Hughes Syndrome and Antiphospholipid Syndrome. Lupus Foundation of America, Inc.: Antiphospholipid Antibodies [lupus.org] Information on antiphospholipid antibodies and APS. The National Alliance for Thrombosis and Thrombophilia [nattinfo.org] A nationwide, community-based, volunteer health organization committed to preventing and treating the array of major health problems caused by blood clots. Rare Thrombotic Diseases Consortium [rarediseasesnetwork.epi.usf.edu] An integrated group of academic medical centers, patient support organizations, and clinical research resources dedicated to conducting clinical research in rare thrombotic disorders. American Autoimmune Related Diseases Association, Inc. [aarda.org] An organization dedicated to the eradication of autoimmune diseases and the alleviation of suffering and the socioeconomic impact of autoimmunity.
NINDS Antiphospholipid Syndrome Information Page [ninds.nih.gov] Information from the National Institute of Neurological Disorders and Stroke (NINDS). New Registry Will Benefit Patients with Antiphospholipid Syndrome (APS) [niams.nih.gov] Press release from the National Institute of Arthritis and Musculoskeletal and Skin Diseases. National Registry on Antiphospholipid Syndrome [niams.nih.gov] National Institute of Arthritis and Musculoskeletal and Skin Diseases Antiphospholipid Syndrome Registry Antiphospholipid syndrome [rarediseases.info] Information from the Genetics and Rare Diseases Information Center. Finding Reliable Health Information Online A listing of information and links for finding comprehensive genetics health information online.
The information on this page was adapted from the following resources:
Antiphospholipid Antibody Syndrome [uiuc.edu] Antiphospholipid Syndrome [emedicine.com] APS UpToDate [patients.uptodate.com] Online Mendelian Inheritance in Man (OMIM) [ncbi.nih.gov] Hoffman: Hematology: Basic Principles and Practice, 4th ed., Copyright 2005: 2320. Roubey RAS. "Antiphospholipid Syndrome". In: The Autoimmune Diseases (4th ed.), Mackay IR, Rose NR, eds. Academic Press/Elsevier Science. 2006. Williams Hematology, 6th ed., Ernest Beutler, Marshall A. Lichtman, Barry S. Coller, Thomas J. Kipps, and Uri Seligsohn, McGraw-Hill Medical Publishing Division Copyright 2001, pp. 1715-1733.