Legg-Perthes disease in three siblings, two heterozygous and one homozygous for the factor V Leiden mutation.

Abstract

A family is described with three-generation transmission of factor V Leiden (a thrombophilic mutation that causes resistance to activated protein C). Legg-Perthes disease developed in three siblings in this family. The male proband and his sister were heterozygous for the mutation and had unilateral hip disease at age 2 years. The brother, who had bilateral hip disease, was homozygous. This novel family provides compelling evidence for the pathoetiologic role of familial thrombophilia in Legg-Perthes disease.