Familial lupus and antiphospholipid syndrome

The occurrence of systemic lupus erythematosus (SLE) in several members of a family has spurred intense efforts to identify susceptibility genes predisposing to the disease. As a result, a number of candidate association genes in different ethnic groups have been identified, and some genes have been linked to specific lupus manifestations. Particularly where familial disease occurs in childhood, and especially when it occurs prior to puberty, complement deficiencies and other immunologic defects should be explored. Evidence of other forms of autoimmunity, including autoimmune thyroiditis and antiphospholipid syndrome (APS), is common in families with SLE. Familial APS is uncommon in the absence of other thrombophilic defects, but occasionally is seen with apparent autosomal dominant inheritance. Thus far, no firm gene associations have been identified for APS, in part because of the rarity of multiplex families to study. A search for other familial causes of thrombotic disease should be performed when APS occurs in more than one family member.