Clinical and Genetic Characteristics of 40 Patients with Non-Muscle Myosin Heavy Chain 9-Related Disease (MYH9-RD) Misdiagnosed as ITP: A Retrospective Analysis in China.
Abdul Rehman Arif, Hu Zhou, Yongjun Fang, Yunfeng Cheng, Jieyu Ye, Wenlan Chen, Yajie Ding, Li Cai, Mei Xue, Heng Mei, Yadan Wang
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引用次数: 0
Abstract
Background: Myosin Heavy Chain 9-related diseases (MYH9-RD) are rare autosomal dominant platelet disorders characterised by macrothrombocytopaenia and leukocyte inclusion bodies. They can manifest with non-haematological complications, including deafness, nephropathy, or cataracts. Due to its rarity and its similar clinical presentation with immune thrombocytopaenia (ITP), MYH9-RD is often misdiagnosed as ITP, leading to inappropriate treatment and delayed management of complications.
Objective: The study aimed to evaluate clinical, therapeutic, and genetic aspects of patients with MYH9-RD misdiagnosed with ITP, comparing differences between Chinese paediatric and adult cases of this condition.
Methods: This multi-centre retrospective study included data obtained from Chinese patients diagnosed with MYH9-RD between January 2014 and December 2023 at five centres.
Results: Adults exhibited significantly longer median misdiagnosis (9 years vs. 0.2 years, p < 0.001) and treatment durations (1.5 years vs. 0.1 years, p < 0.001) than children. Non-haematological manifestations were exclusive to adults (10/21). All patients received inappropriate ITP treatments, with adults receiving more different treatments. Genetic analysis revealed 21 spontaneous mutations (52.5%), 12 familial mutations, and 7 mutations of unknown inheritance patterns. Two novel mutations (p.G1517V and p.K1674Q) were identified. Patients with p.R702C mutation demonstrated early-stage kidney injury and hearing loss.
Conclusion: Adult patients with MYH9-RD face elevated risks of misdiagnosis, prolonged inappropriate treatment, and non-haematological complications than paediatric patients. Enhanced awareness, consideration of mean platelet volume, family history, and genetic screening are crucial for accurate MYH9-RD diagnosis and management. The prevalence of spontaneous mutations and identified genotype-phenotype correlations warrant further investigation in the Chinese population.
期刊介绍：
The Journal of Thrombosis and Haemostasis (JTH) serves as the official journal of the International Society on Thrombosis and Haemostasis. It is dedicated to advancing science related to thrombosis, bleeding disorders, and vascular biology through the dissemination and exchange of information and ideas within the global research community.
Types of Publications:
The journal publishes a variety of content, including:
Original research reports
State-of-the-art reviews
Brief reports
Case reports
Invited commentaries on publications in the Journal
Forum articles
Correspondence
Announcements
Scope of Contributions:
Editors invite contributions from both fundamental and clinical domains. These include:
Basic manuscripts on blood coagulation and fibrinolysis
Studies on proteins and reactions related to thrombosis and haemostasis
Research on blood platelets and their interactions with other biological systems, such as the vessel wall, blood cells, and invading organisms
Clinical manuscripts covering various topics including venous thrombosis, arterial disease, hemophilia, bleeding disorders, and platelet diseases
Clinical manuscripts may encompass etiology, diagnostics, prognosis, prevention, and treatment strategies.
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