Hereditary thrombotic thrombocytopenic purpura mimicking immune thrombocytopenia was revealed by miscarriage-novel compound heterozygous mutations in hTTP

• Main Authors: Ruiqing Zhou (Author), Jiahuan Wang (Author), Ahui Wang (Author), Shunqing Wang (Author), Yumiao Li (Author), Shilin Xu (Author), Wenjian Mo (Author)
• Format: Book
• Published: BMC, 2024-11-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract We report a case of early-onset hereditary thrombotic thrombocytopenic purpura in a 16-year-old girl who suffered from thrombocytopenia and was misdiagnosed with immune thrombocytopenia for years until two failed gestations finally revealed the underlying cause. The novel compound heterozyg...