de médecine interne et maladies infectieuses, Centre Haut-Rhinois de
compétence des maladies systémiques et auto-immunes rares, Hôpital
Pasteur, Hôpitaux civils de Colmar, 39 avenue de la liberté, 68024
2 Laboratoire d’hématologie et d’hémostase, Hôpital Pasteur, Hôpitaux civils de Colmar, 39 avenue de la liberté, 68024 COLMAR.
3 Faculté de médecine, INRA/UMR 1260; 27 boulevard J. Moulin, 13385 MARSEILLE.
4 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
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thrombosis affecting thrombocytopenic patients is challenging. We
report the case of a woman affected by deep vein thrombosis and
pulmonary embolism in a thrombocytopenic context 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 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.
|Figure 1. Patient’s family tree|
AcknowledgementsThe authors would like to thank Ms. Christine Nguyen for her technical assistance.