What is the genetics of antiphospholipid antibodies/syndrome?

Abstract

An inherited risk for the occurrence of antiphospholipid antibodies (aPLs), with or without the clinical manifestations associated with antiphospholipid syndrome (APS), is supported by multiple lines of evidence. Family members of patients with APS, whether primary or associated with another autoimmune disease, are more likely to have elevated aPL levels. Multiple reports have described multiplex families with two or more family members with APS (or APS and another autoimmune disorder), and there is a strong association between aPL and APS with specific genes and gene alleles in the major histocompatibility complex. Genetic risk factors also appear to contribute to the prothrombotic risk in individual patients with aPL. The data would suggest that the development of these antibodies, as well as the clinical syndrome, reflects a complex interplay of inherited and acquired risk factors. Ongoing studies designed to identify and characterize genes associated with the development of aPL will improve our understanding of this complex autoimmune disorder and may provide a better understanding of which patients with aPL will develop clinical manifestations of the syndrome.