Antiphospholipid Syndrome (APS)

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Disease Ontology 11 DOID:2988 MeSH 43 D016736 NCIt 49 C61283 SNOMED-CT 68 201450008

Orphanet 58 ORPHA80 EFO 16 EFO_0002689 ICD11 33 1173370808 1173370808/unspecified 85700944 UMLS 71 C0085278 C0796280 C2930802

MedlinePlus Genetics: ⁴² Antiphospholipid syndrome is a disorder characterized by an increased tendency to form abnormal blood clots (thromboses) that can block blood vessels. This clotting tendency is known as thrombophilia. In antiphospholipid syndrome, the thromboses can develop in nearly any blood vessel in the body. If a blood clot forms in the vessels in the brain, blood flow is impaired and can lead to stroke. Antiphospholipid syndrome is an autoimmune disorder. Autoimmune disorders occur when the immune system attacks the body's own tissues and organs.Women with antiphospholipid syndrome are at increased risk of complications during pregnancy. These complications include pregnancy-induced high blood pressure (preeclampsia), an underdeveloped placenta (placental insufficiency), early delivery, or pregnancy loss (miscarriage). In addition, women with antiphospholipid syndrome are at greater risk of having a thrombosis during pregnancy than at other times during their lives. At birth, infants of mothers with antiphospholipid syndrome may be small and underweight.A thrombosis or pregnancy complication is typically the first sign of antiphospholipid syndrome. This condition usually appears in early to mid-adulthood but can begin at any age.Other signs and symptoms of antiphospholipid syndrome that affect blood cells and vessels include a reduced amount of cells involved in blood clotting called platelets (thrombocytopenia), a shortage of red blood cells (anemia) due to their premature breakdown (hemolysis), and a purplish skin discoloration (livedo reticularis) caused by abnormalities in the tiny blood vessels of the skin. In addition, affected individuals may have open sores (ulcers) on the skin, migraine headaches, or heart disease. Many people with antiphospholipid syndrome also have other autoimmune disorders such as systemic lupus erythematosus.Rarely, people with antiphospholipid syndrome develop thromboses in multiple blood vessels throughout their body. These thromboses block blood flow in affected organs, which impairs their function and ultimately causes organ failure. These individuals are said to have catastrophic antiphospholipid syndrome (CAPS). CAPS typically affects the kidneys, lungs, brain, heart, and liver, and is fatal in over half of affected individuals. Less than 1 percent of individuals with antiphospholipid syndrome develop CAPS.

MalaCards based summary: Antiphospholipid Syndrome, also known as antiphospholipid antibody syndrome, is related to libman-sacks endocarditis and pregnancy loss, recurrent 1, and has symptoms including unspecified visual loss An important gene associated with Antiphospholipid Syndrome is APOH (Apolipoprotein H), and among its related pathways/superpathways are Response to elevated platelet cytosolic Ca2+ and Collagen chain trimerization. The drugs Warfarin and Acetaminophen have been mentioned in the context of this disorder. Affiliated tissues include placenta, heart and brain, and related phenotypes are homeostasis/metabolism and cardiovascular system

NINDS: ⁵² Antiphospholipid syndrome (APS) is an autoimmune disorder caused when antibodies -- immune system cells that fight off bacteria and viruses -- mistakenly attack healthy body tissues and organs.  In APS, specific antibodies activate the inner lining of blood vessels, which leads to the formation of blood clots in arteries or veins.  APS is sometimes called “sticky blood syndrome,” because of the increased tendency to form blood clots in the veins and arteries.  The symptoms of APS are due to the abnormal blood clotting.  Clots can develop in the veins of the legs and lungs, or in the placenta of pregnant women.  One of the most serious complications of APS occurs when a clot forms in the brain and causes a stroke.  Other neurological symptoms include chronic headaches, dementia (similar to the dementia of Alzheimer’s disease), and seizures.  Infrequently, individuals will develop chorea (a movement disorder in which the body and limbs writhe uncontrollably), cognitive dysfunction (such as poor memory), transverse myelitis, depression or psychosis, optic neuropathy, or sudden hearing loss.  In pregnant women, clots in the placenta can cause miscarriages.  APS is diagnosed by the presence of a positive antiphospholipid antibody and either a history of blood clots in an artery or vein or a history of multiple miscarriages or other pregnancy problems.  Some individuals will have a characteristic lacy, net-like red rash called livedo reticularis over their wrists and knees.

PubMed Health : ⁶³ Antiphospholipid antibody syndrome: Antiphospholipid (AN-te-fos-fo-LIP-id) antibody syndrome (APS) is an autoimmune disorder. Autoimmune disorders occur if the body's immune system makes antibodies that attack and damage tissues or cells. Antibodies are a type of protein. They usually help defend the body against infections. In APS, however, the body makes antibodies that mistakenly attack phospholipids—a type of fat. Phospholipids are found in all living cells and cell membranes, including blood cells and the lining of blood vessels. When antibodies attack phospholipids, cells are damaged. This damage causes blood clots to form in the body's arteries and veins. (These are the vessels that carry blood to your heart and body.) Usually, blood clotting is a normal bodily process. Blood clots help seal small cuts or breaks on blood vessel walls. This prevents you from losing too much blood. In APS, however, too much blood clotting can block blood flow and damage the body's organs.

GARD: ¹⁹ Antiphospholipid syndrome (APS) is an autoimmune disorder. Signs and symptoms vary, but may include blood clots, miscarriage, rash, chronic headaches, dementia, and seizures. 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 genetic changes (making one more susceptible to APS) and an environmental exposure (such as to a virus).

Disease Ontology: ¹¹ An autoimmune disease that is characterized by recurrent venous or arterial thrombosis and/or fetal losses associated with characteristic elevated levels of antibodies directed against membrane anionic phospholipids (anticardiolipin).

Wikipedia: ⁷⁵ Antiphospholipid syndrome, or antiphospholipid antibody syndrome (APS or APLS), is an autoimmune,... more...

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	no effect	GR00402-S-1	10.23	ADAMTS13 ANXA2 ANXA5 APOH CD40LG CFH
2	no effect	GR00402-S-2	10.23	ADAMTS13 ANXA2 ANXA5 APOH CD40LG CFH

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. You may have APS and another autoimmune disorder , such as lupus . If so, it's important to control that condition as well. When the other condition is controlled, APS may cause fewer problems. Research is ongoing for new ways to treat APS.

Search NIH Clinical Center for Antiphospholipid Syndrome

Search GEO for disease gene expression data for Antiphospholipid Syndrome.