Hereditary thrombocytopenia: Relation to Wiskott-Aldrich syndrome with special reference to splenectomy: Report of a family and review of the literature

Abstract

Two brothers with eczema and congenital thrombocytopenia, thought to be inherited as a sex-linked recessive defect, are presented. Although both had some of the immunologic deficiencies associated with Wiskott-Aldrich syndrome, they could respond in both the humoral and cellular immune systems following antigenic challenge. After splenectomy, the older brother had several serious infections and died. The disorder present in this family raises important questions concerning the relationship of inherited thrombocytopenia, eczema, and immunologic deficiency and the role of splenectomy in the treatment of chronic thrombocytopenia in children. Whereas only 2 to 3 per cent of children develop serious infections following splenectomy for idiopathic thrombocytopenia, the risk is significantly higher in boys than in girls and in patients with sex-linked recessive thrombocytopenia. It seems likely that splenectomy can unmask a latent immunologic deficiency in certain thrombocytopenic males, and hence should be approached with extreme caution in any individual with eczema, a family history of thrombocytopenia, or evidence of immunologic deficiency.