Purpura thrombopénique immunologique réfractaire révélant un syndrome MYH9 chez un homme de 64 ans

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.