Idiopathic pulmonary embolism in a case of severe family ANKRD26 thrombocytopenia

Jérôme Guison, Gilles Blaison, Oana Stoica, Remy Hurstel, Marie Favier, Remi Favier
  • Jérôme Guison
    Service de médecine interne et immunologie clinique Centre Haut-Rhinois de compétence des maladies systémiques et auto-immunes rares Hôpital Pasteur, Hôpitaux Civils de Colmar 39 avenue de la liberté 68024 COLMAR, France | jerome.guison@ch-colmar.fr
  • Gilles Blaison
    Service de médecine interne et immunologie clinique Centre Haut-Rhinois de compétence des maladies systémiques et auto-immunes rares Hôpital Pasteur, Hôpitaux Civils de Colmar 39 avenue de la liberté 68024 COLMAR, France
  • Oana Stoica
    Service de médecine interne et immunologie clinique Centre Haut-Rhinois de compétence des maladies systémiques et auto-immunes rares Hôpital Pasteur, Hôpitaux Civils de Colmar 39 avenue de la liberté 68024 COLMAR, France
  • Remy Hurstel
    Laboratoire d’hématologie et d’hémostase, Hôpital Pasteur, Hôpitaux civils de Colmar, 39 avenue de la liberté, 68024 COLMAR, France
  • Marie Favier
    Faculté de médecine, INRA/UMR 1260 ; 27 boulevard J. Moulin, 13385 MARSEILLE, France
  • Remi Favier
    Service d’hématologie biologique, Centre de référence des pathologies plaquettaires, Assistance Publique-Hôpitaux de Paris, Hôpital Armand Trousseau, 26 avenue du Dr Netter, 75012 PARIS, France

Abstract

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.

Keywords

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

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