Case Reports
Vol. 9 No. 1 (2017): Review, Original Articles, Case Reports
Idiopathic pulmonary embolism in a case of severe family ANKRD26 thrombocytopenia
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All claims expressed in this article are solely those of the authors and do not necessarily represent those of their affiliated organizations, or those of the publisher, the editors and the reviewers. Any product that may be evaluated in this article or claim that may be made by its manufacturer is not guaranteed or endorsed by the publisher.
Received: February 17, 2017
Accepted: May 19, 2017
Accepted: May 19, 2017
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Hematology,
Thrombosis,
Internal Medicine,
Myelodysplasia
Authors
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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Citations
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Case ReportHow to Cite
“Idiopathic pulmonary embolism in a case of severe family ANKRD26 thrombocytopenia” (2017) Mediterranean Journal of Hematology and Infectious Diseases, 9(1), p. e2017038. doi:10.4084/mjhid.2017.038.
