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

IF 0.7 4区医学 Q3 MEDICINE, GENERAL & INTERNAL

Revue De Medecine Interne Pub Date : 2025-04-01 DOI:10.1016/j.revmed.2024.12.005

Quentin Bodard , Guillaume Fredon , Agnès Riche , Xavier Tessier , Johanne Liberatore

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引用次数: 0

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.

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来源期刊

Revue De Medecine Interne 医学-医学：内科

CiteScore

0.70

自引率

11.10%

发文量

526

审稿时长

37 days

期刊介绍： Official journal of the SNFMI, La revue de medecine interne is indexed in the most prestigious databases. It is the most efficient French language journal available for internal medicine specialists who want to expand their knowledge and skills beyond their own discipline. It is also the main French language international medium for French research works. The journal publishes each month editorials, original articles, review articles, short communications, etc. These articles address the fundamental and innumerable facets of internal medicine, spanning all medical specialties. Manuscripts may be submitted in French or in English. La revue de medecine interne also includes additional issues publishing the proceedings of the two annual French meetings of internal medicine (June and December), as well as thematic issues.