• Rev Med Interne · Feb 2025

    [Refractory immune thrombocytopenia revealing MYH9 related disease in a 64-year-old man].

    • Quentin Bodard, Guillaume Fredon, Agnès Riche, Xavier Tessier, and Johanne Liberatore.
    • Service de médecine interne, maladies infectieuses et rhumatologie, centre hospitalier d'Angoulême, Angoulême, France. Electronic address: quentin.bodard@ch-angouleme.fr.
    • Rev Med Interne. 2025 Feb 11.

    IntroductionMYH9 related disease is a rare autosomal dominant inherited disorder characterized in its full expression by thrombocytopenia, platelets macrocytosis, deafness, chronic kidney disease and cataract.Case ReportWe present an original and didactic observation of refractory immune thrombocytopenia revealing a late diagnosis of MYH9 related disease. A 64-year-old man with longstanding thrombocytopenia less than 30 G/L without any history of bleeding, was treated with corticosteroids, intravenous immune globulin and thrombopoietin receptor agonists for a coronary angioplasty. The presence of platelets macrocytosis, increased mean platelet volume and deafness led to genetic testing of MYH9 related disease.ConclusionMYH9 related disease is the most common inherited thrombocytopenia. If no other symptoms are associated, it is an important differential diagnosis for immune thrombocytopenia that should be known.Copyright © 2024 Société Nationale Française de Médecine Interne (SNFMI). Published by Elsevier Masson SAS. All rights reserved.

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