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

Abstract

Introduction: MYH9 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 report: We 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.

Conclusion: MYH9 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.

Keywords: Immune thrombocytopenia; Inherited thrombocytopenia; MYH9 related disease; Purpura thrombopénique immunologique; Thrombopénie constitutionnelle; syndrome MYH9.