Hereditary thrombotic thrombocytopenic purpura mimicking idiopathic thrombocytopenic purpura was revealed by miscarriage——Novel Compound Heterozygous Mutations in hTTP

Abstract We report a case of early-onset hereditary thrombotic thrombocytopenic purpura in a 16-years old girl, who suffered from solely thrombocytopenia and was misdiagnosed as idiopathic thrombocytopenic purpura for years until two failed gestations finally revealed the underlying cause. Novel compound heterozygous mutations c.2865G>A:p.Trp955X and c.721delG:p.Gly241fs in ADAMTS13 gene were found and were predicted to be associated with the disease. She responded to plasma therapy but renal dysfunction may remain longstanding.