Recent Advances in Understanding of the Genetics of Antiphospholipid Syndrome
Available evidence supports an inherited risk for the occurrence of antiphospholipid antibodies (aPL), with or without the clinical manifestations associated with antiphospholipid syndrome (APS). Immediate relatives of individuals with APS, whether primary or associated with another autoimmune disease, are more likely to have aPL. Several reports describe multiplex families with APS or APS associated with another autoimmune disorder, and there is a strong association between aPL and APS with specific genes and gene alleles in the major histocompatibility complex. Other genetic risk factors also appear to contribute to the risk of thrombotic events or recurrent pregnancy loss in individuals with aPL. These data suggest that the development of aPL as well as its associated clinical syndrome reflects a complex interplay of inherited and acquired risk factors. Genome-wide studies designed to identify and characterize genes associated with the development of aPL should improve our understanding of this complex autoimmune disorder and regarding which patients with aPL are likely to develop clinical manifestations of the syndrome.
