TY - JOUR AU - Guison, Jérôme AU - Blaison, Gilles AU - Stoica, Oana AU - Hurstel, Remy AU - Favier, Marie AU - Favier, Remi PY - 2017/06/16 Y2 - 2024/03/28 TI - Idiopathic pulmonary embolism in a case of severe family ANKRD26 thrombocytopenia JF - Mediterranean Journal of Hematology and Infectious Diseases JA - Mediterr J Hematol Infect Dis VL - 9 IS - 1 SE - Case Reports DO - 10.4084/mjhid.2017.038 UR - https://www.mjhid.org/mjhid/article/view/2017.038 SP - e2017038 AB - <p>Venous thrombosis affecting thrombocytopenic patients is challenging. We report the case of a thrombocytopenic woman affected by deep vein thrombosis and pulmonary embolism leading to the discovery of a heterozygous mutation in the gene encoding ankyrin repeat domain 26 (ANKRD26) associated with a heterozygous factor V (FV) Leiden mutation. This woman was diagnosed with left lower-limb deep vein thrombosis complicated by pulmonary embolism. Severe thrombocytopenia was observed. The genetic study evidenced a heterozygous FV Leiden mutation. Molecular study sequencing was performed after learning that her family had a history of thrombocytopenia. Previously described heterozygous mutation c-127C&gt;A in the 5? untranslated region (5?UTR) of the ANKRD26 gene was detected in the patient, her aunt, and her grandmother. ANKRD26-related thrombocytopenia and thrombosis are rare. This is, to our knowledge, the first case reported in the medical literature. This mutation should be screened in patients with a family history of thrombocytopenia.<strong></strong></p> ER -