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Encyclopedia > Antiphospholipid syndrome
Antiphospholipid syndrome
Classifications and external resources
ICD-10 D68.8 (ILDS D68.810)
OMIM 107320
DiseasesDB 775
eMedicine med/2923 

Antiphospholipid syndrome (or antiphospholipid antibody syndrome) is a disorder of coagulation which causes thrombosis in both arteries and veins, as well as recurrent miscarriage. It is due to the autoimmune production of antibodies against cell membrane constituents. It is also referred to as Hughes syndrome after the rheumatologist Dr Graham R.V. Hughes (St. Thomas' Hospital, London, UK) who now works treating Lupus and Hughes Syndrome at the London Lupus Centre. The International Statistical Classification of Diseases and Related Health Problems (commonly known by the abbreviation ICD) is a detailed description of known diseases and injuries. ... The following codes are used with International Statistical Classification of Diseases and Related Health Problems. ... // C00-D48 - Neoplasms (C00-C14) Malignant neoplasms, lip, oral cavity and pharynx (C00) Malignant neoplasm of lip (C01) Malignant neoplasm of base of tongue (C02) Malignant neoplasm of other and unspecified parts of tongue (C03) Malignant neoplasm of gum (C04) Malignant neoplasm of floor of mouth (C05) Malignant neoplasm of... The International League of Dermatological Societies (ILDS) is a non-governmental organization affiliated with the World Health Organization. ... The Mendelian Inheritance in Man project is a database that catalogues all the known diseases with a genetic component, and - when possible - links them to the relevant genes in the human genome. ... The Diseases Database is a free website that provides information about the relationships between medical conditions, symptoms, and medications. ... eMedicine is an online clinical medical knowledge base that was founded in 1996. ... Schematic of antibody binding to an antigen An antibody or immunoglobulin is a large Y-shaped protein used by the immune system to identify and neutralize foreign objects like bacteria and viruses. ... The coagulation of blood is a complex process during which blood forms solid clots. ... Thrombosis is the formation of a clot or thrombus inside a blood vessel, obstructing the flow of blood through the circulatory system. ... Section of an artery For other uses see Artery (disambiguation) Arteries are muscular blood vessels that carry blood away from the heart. ... In biology, a vein is a blood vessel which carries blood toward the heart. ... Miscarriage or spontaneous abortion is the natural or accidental termination of a pregnancy at a stage where the embryo or the fetus is incapable of surviving, generally defined at a gestation of prior to 20 weeks. ... Autoimmune diseases arise from an overactive immune response of the body against substances and tissues normally present in the body. ... Schematic of antibody binding to an antigen An antibody or immunoglobulin is a large Y-shaped protein used by the immune system to identify and neutralize foreign objects like bacteria and viruses. ... // In animal cells the plasma membrane alone establishes a separation between interior and environment, where as in fungi, bacteria, and plants an additional cell wall forms the outermost boundary. ... An eponym is the name of a person, whether real or fictitious, which has (or is thought to have) given rise to the name of a particular place, tribe, discovery or other item. ... Antiphospholipid syndrome, or antiphospholipid antibody syndrome, is a disorder of coagulation, and causes thrombosis in both arteries and veins, as well as recurrent miscarriage. ... Rheumatology, a subspecialty of internal medicine, is devoted to the diagnosis and treatment of rheumatic diseases. ... Saint Thomas’ Hospital. ... London (pronounced ) is the capital city of England and the United Kingdom. ... Lupus is Latin for wolf. It may refer in English to: several diseases: Lupus erythematosus, the autoimmune disease (also known as systemic lupus erythematosus, or SLE) Lupus nephritis, an inflammation caused by SLE Lupus pernio, a feature of sarcoidosis Lupus vulgaris, a feature of cutaneous tuberculosis other uses: Lupus, the...


A very rare form is the catastrophic antiphospholipid syndrome, in which there is rapid organ dysfunction and failure. It carries a high mortality. Catastrophic antiphospholipid syndrome, CAPS, also Asherson’s syndrome, is an acute and complex biological process that leads to occlusion of small vessels of various organs. ...

Contents

Signs and symptoms

The presence of antiphospholipid antibodies (APLAs) is suggested by thrombosis (arterial or venous) and recurrent miscarriage (especially in the second trimester, but often earlier). Other common findings, although not part of the classification, are thrombocytopenia (low platelet count) and livedo reticularis (a skin condition). Many patients report headaches and migraines. Section of an artery For other uses see Artery (disambiguation) Arteries are muscular blood vessels that carry blood away from the heart. ... In biology, a vein is a blood vessel which carries blood toward the heart. ... The human gestation period of approximately 40 weeks between the time of the last menstrual cycle and delivery is traditionally divided into three periods of three months, or trimesters. ... Thrombocytopenia (or -paenia, or thrombopenia in short) is the presence of relatively few platelets in blood. ... A 250 ml bag of newly collected platelets. ... Livedoid vasculitis (also known as livedo vasculitis, livedo reticularis, and livedoid vasculopathy) is a vascular disorder mostly affecting women. ... In zootomy and dermatology, skin is an organ of the integumentary system made up of multiple layers of epithelial tissues that guard underlying muscles and organs. ... A headache (medically known as cephalalgia, sometimes spelled as cephalgia) is a condition of pain in the head; sometimes neck or upper back pain may also be interpreted as a headache. ...


APLAs are present in the blood in the context of a number of diseases, most notably systemic lupus erythematosus (SLE). One can only speak of antiphospolipid syndrome when there are no other symptoms of one of these diseases (e.g. arthritis suggestive of SLE). Very few patients with the syndrome go on to develop SLE. A disease or medical condition is an abnormality of the body or mind that causes discomfort, dysfunction, distress, or death to the person afflicted or those in contact with the person. ... Arthritis (from Greek arthro-, joint + -itis, inflammation; plural: arthritides) is a group of conditions where there is damage caused to the joints of the body. ...


Hughes syndrome can also mimic MS with an estimated 10% of Multiple Sclerosis patients misdiagnosed. As Hughes Sydrome does not always produce T2 weighted abnormalities it is likely that some patients who have been diagnosed as suffering from hysteria/conversion disorder may in fact have Hughes Syndrome. The Hughes Syndrome foundation has been alerted to this possiblility and is currently examining rates of misdiagnosis.


Laboratory

The diagnosis is often entertained in cases of thrombophilia (recurrent thrombosis) or recurrent miscarriage. Tests that are often performed at the same time are a full blood count, liver enzyme studies and renal function studies. Thrombophilia is the propensity to develop thrombosis (blood clots) due to an abnormality in the system of coagulation. ... A full blood count (FBC) or complete blood count (CBC) is a test requested by a doctor or other medical professional that gives information about the cells in a patients blood. ... Liver function tests (LFTs or LFs), are groups of clinical biochemistry laboratory blood assays designed to give a doctor or other health professional information about the state of a patients liver. ... In medicine (nephrology) renal function is an indication of the state of the kidney and its role in physiology. ...


Thrombophilia screening can consist of:

Antiphospholipid syndrome is tested for in the laboratory by using a minimum of two coagulation tests that are phospholipid sensitive. The patient on initial screening will typically have been found to have a prolonged APTT that does not correct in an 80:20 mixture with normal human plasma (50:50 mixes with normal plasma are insensitive to all but the highest antibody levels). The APTT (plus 80:20 mix), dilute Russell's viper venom time (DRVVT), the kaolin clotting time (KCT) or dilute thromboplastin time {TDT/DTT) are the prinicipal tests used for the detection of lupus anticoagulant. A further antibody can be detected using an enzyme-linked immunosorbant assay (ELISA) immunological test, which screens for the presence of anticardiolipin antibodies. The partial thromboplastin time (PTT) or activated partial thromboplastin time (aPTT) is a performance indicator measuring the efficacy of both the intrinsic and the common coagulation pathways. ... The prothrombin time (PT) and its derived measures of prothrombin ratio (PR) and international normalized ratio (INR) are measures of the extrinsic pathway of coagulation. ... The Throbin Clotting Time (TCT), also known as the Thrombin Time (TT), is a coagulation assay which is usually performed in order to detect for the thereputic level of the anticoagulant Heparin. ... Factor V Leiden (sometimes Factor VLeiden) is a hypercoagulability disorder in which Factor V, one of the coagulation factors, cannot be deactivated. ... Thrombin (activated Factor II) is a coagulation protein that has many effects in the coagulation cascade. ... Factor VIII (FVIII) is an essential clotting factor. ... MTHFR, or Methylene-tetra-hydrofolate reductase is an enzyme that exists in human cells that assists with metabolism and the reduction of blood homocysteine levels. ... Protein C is a major physiological anticoagulant. ... Protein S is a vitamin K-dependent plasma glycoprotein synthesized in the liver and it functions as a cofactor to Protein C in the inactivation of Factors Va and VIIIa. ... Factor VIII (FVIII) is an essential clotting factor. ... Image:Antithrombin. ... Plasmin is an important degrading enzyme (EC 3. ... In blood coagulation, tissue plasminogen activator (tPA) is an enzyme (EC 3. ... Plasminogen activator inhibitor-1 is the principal inhibitor of tissue plasminogen activator (tPA) and urokinase (uPA), the activators of plasminogen and hence fibrinolysis (the physiological breakdown of blood clots). ... Michael Faraday, 19th century physicist and chemist, in his lab. ... Blood plasma is the liquid component of blood, in which the blood cells are suspended. ... Dilute Russells viper venom time (dRVVT) is a laboratory test for lupus anticoagulant (LA). ... Lupus anticoagulant is an autoimmune disorder caused by antibodies that bind to phospholipids and proteins associated with the cell membrane. ... Elisa portrayed on the cover of her album Pearl Days. ... Immunology is a broad branch of biomedical science that covers the study of all aspects of the immune system in all organisms. ...


Low platelet count and positivity for antibodies against β2-glycoprotein or phosphotidylserine may also be observed in a positive diagnosis. Thrombocytopenia (or -paenia, or thrombopenia in short) is the presence of relatively few platelets in blood. ...


Diagnosis

The diagnosis is made in case of a clinical event (thrombosis or recurrent miscarriage after 10 weeks gestation) and repeated positive tests of lupus anticoagulant and/or anticardiolipin antibodies performed 6-8 weeks apart. Repeat testing is necessary due to the naturally occurring presence of transient high levels of antiphospholipid antibodies following infection and inflammation. Other antibodies, although implicated, are not yet considered relevant for diagnosis.


Pathogenesis

Antiphospholipid syndrome is an autoimmune disease, in which antibodies react against anionic phospholipids on cell membranes. Being an autoimmune disease, it is more common in women than in men. The exact cause is not known, but activation of the system of coagulation is evident. Autoimmune diseases arise from an overactive immune response of the body against substances and tissues normally present in the body. ... Two schematic representations of a phospholipid. ... // In animal cells the plasma membrane alone establishes a separation between interior and environment, where as in fungi, bacteria, and plants an additional cell wall forms the outermost boundary. ... Autoimmune diseases arise from an overactive immune response of the body against substances and tissues normally present in the body. ...


Treatment

Often, this disease is treated by giving aspirin to inhibit platelet activation, and/or warfarin as an anticoagulant. The goal of the prophylactic treatment is to maintain the patient's INR between 2.0-3.0. It is not usually done in patients who have not had any thrombotic symptoms. During pregnancy, heparin is used instead of warfarin because of warfarin's teratogenicity. Aspirin or acetylsalicylic acid (acetosal) is a drug in the family of salicylates, often used as an analgesic (against minor pains and aches), antipyretic (against fever), and anti-inflammatory. ... Warfarin (also known under the brand names of Coumadin®, Jantoven®, Marevan®, and Waran®) is an anticoagulant medication that is administered orally or, very rarely, by injection. ... An anticoagulant is a substance that prevents coagulation; that is, it stops blood from clotting. ... Prophylaxis refers to any medical or public health procedure whose purpose is to prevent, rather than treat or cure, disease. ... The prothrombin time (PT) and its derived measures of prothrombin ratio (PR) and international normalized ratio (INR) are measures of the extrinsic pathway of coagulation. ... A pregnant woman near the end of her term Pregnancy is the carrying of one or more embryos or fetuses by female mammals, including humans, inside their bodies. ... Heparin is a highly sulfated glycosaminoglycan widely used as an injectable anticoagulant. ... Teratogenesis is a medical term from the Greek, literally meaning monster making. ...


Women with recurrent miscarriage are often advised to take aspirin and to start heparin (or low molecular weight heparin) treatment after missing a period. This is the most effective treatment at the moment. Heparin is a highly sulfated glycosaminoglycan widely used as an injectable anticoagulant. ... In medicine, low molecular weight heparin (LMWH) is a class of medication used as an anticoagulant in diseases that feature thrombosis, as well as for prophylaxis in situations that lead to a high risk of thrombosis. ... Menstrual cycle The menstrual cycle is a recurring cycle of physiological changes in the females of some animal species that is associated with reproductive fertility. ...


  Results from FactBites:
 
Antiphospholipid syndrome - Wikipedia, the free encyclopedia (692 words)
Antiphospholipid syndrome (or antiphospholipid antibody syndrome) is a disorder of coagulation which causes thrombosis in both arteries and veins, as well as recurrent miscarriage.
Antiphospholipid syndrome is tested for in the laboratory by using a minimum of two coagulation tests that are phospholipid sensitive.
Antiphospholipid syndrome is an autoimmune disease, in which antibodies react against anionic phospholipids on cell membranes.
  More results at FactBites »

 
 

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