Genetics of Antiphospholipid Syndrome
نویسنده
چکیده
Antiphospholipid syndrome (APS) is defined as recurrent arterial and/or venous thrombosis and obstetric complications in the presence of antiphospholipid antibodies (aPL). The possibility of a genetic predisposition to develop antiphospholipid syndrome (APS) and to produce anticardiolipin antibodies and lupus anticoagulant has been examined by family studies and population studies. Similar to many other polygenic autoimmune diseases, human leukocyte antigen associations have been reported. The genetics of β2glycoprotein I, one of the most representative target antigens of aPL, has been extensively studied. Additional genetic risk factors for the development of thrombosis in patients with aPL have also been discussed. Although the mechanisms and pathophysiology of thrombosis in APS are highly heterogeneous and multifactorial, different genes seem to be involved.
منابع مشابه
P-75: The Association of Antiphospholipid Syndrome and Recurrent Miscarriages
a:4:{s:10:"Background";s:364:"Antiphospholipid syndrome is a coagulation disorder that causes recurrent miscarriages and fetal deaths. In the present review we summarize current knowledge about Antiphospholipid syndrome that associated with recurrent miscarriages. In addition, on the basis of these comprehensive data, possible pathophysiologic mechanisms of this disorder are discussed.";s:19:"M...
متن کاملRevisiting Beta 2 Glycoprotein I, the Major Autoantigen in the Antiphospholipid Syndrome
Beta 2 glycoprotein I (β2GPI) is a single chain 50 kDa highly glycosylated glycoprotein at an approximate concentration of 4 μM in cells. The abundance of this protein in plasma and its high state of preservation indicate the important role of this protein in mammalian. In addition, β2GPI has a particular structure in the fifth domain, and is categorized as the major antigen recognized by autoa...
متن کاملOral contraceptive-related transverse sinus thrombosis as an initial manifestation of antiphospholipid syndrome in the absence of systemic lupus erythematosus
متن کامل
ANTIPHOSPHOLIPID ANTIBODY SYNDROME-A CASE OF AORTIC VALVE INSUFFICIENCY
A 31 year old woman was hospitalized for evaluation of aortic valve insufficiency and her present cardiac status. Clinical and paraclinical findings strongly suggested the presence of a collagen vascular inflammatory processprecisely, the antiphospholipid antibody syndrome (APS), with systemic lupus erythematosus as the underlying disease.
متن کامل