Idiopathic pulmonary embolism in a case of severe family ANKRD26 thrombocytopenia

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Jérôme Guison
Gilles Blaison
Oana Stoica
Remy Hurstel
Marie Favier
Remi Favier


Ankyrin repeat domain 26 protein, Blood platelets, Platelet disorder, familial, with associated myeloid malignancy, Pulmonary embolism, Thrombocytopenia.


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>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.


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