title: A case study of familial anti-phospholipid syndrome.
abstract: Anti-phospholipid syndrome (APS) may have a familial association. In particular, association has been demonstrated between APS and HLA-DR 4, HLA-DR 7 and HLA-DRB1 14 alleles. Here we have described a family sharing the common haplotype of HLA-DR 7 where definite or probable anti-phospholipid syndrome has been identified in six of the seven family members. Apart from the index case, the other family members have demonstrated partial association in spite of sharing the incriminated haplotype. This could be ascribed either to variable penetrance of the involved genes or to the role of an unaccounted for environmental factor. Alternatively, it is possible that the coexistence of the HLA haplotype and the anti-phospholipid antibodies is coincidental.
mesh_terms: D000328:Adult; D000483:Alleles; D016736:Antiphospholipid Syndrome / Q000150:complications / Q000235:genetics*; D005260:Female; D006680:HLA Antigens / Q000235:genetics; D015809:HLA-DR7 Antigen / Q000032:analysis / Q000235:genetics*; D006239:Haplotypes / Q000235:genetics; D006801:Humans; D002546:Ischemic Attack, Transient / Q000209:etiology; D016682:Lupus Coagulation Inhibitor / Q000032:analysis; D008297:Male; D010291:Paresis / Q000209:etiology; D010314:Partial Thromboplastin Time; D010375:Pedigree; D019683:Penetrance; D011517:Prothrombin Time; D019851:Thrombophilia / Q000209:etiology
chemical_list: D006680:HLA Antigens; D015809:HLA-DR7 Antigen; D016682:Lupus Coagulation Inhibitor