Unraveling MYH9-related disease: A case study on misdiagnosis with idiopathic thrombocytopenic purpura, confirmed through genetic
Lixiu Cai,
Shuangyan Chen,
Yu Zhou,
Hao Yu,
Ya Li,
Aiping Bao,
Jin Zhang,
Qin Lv
Affiliations
Lixiu Cai
Department of Medical Laboratory, The First People's Hospital of Shuangliu, Chengdu/West China (Airport) Hospital Sichuan University, No.120, Chengbei Shangjie, Dongsheng Street, Shuangliu District, Chengdu, 610200, Sichuan Province, China
Shuangyan Chen
Department of Medical Laboratory, The First People's Hospital of Shuangliu, Chengdu/West China (Airport) Hospital Sichuan University, No.120, Chengbei Shangjie, Dongsheng Street, Shuangliu District, Chengdu, 610200, Sichuan Province, China
Yu Zhou
Department of Medical Laboratory, The First People's Hospital of Shuangliu, Chengdu/West China (Airport) Hospital Sichuan University, No.120, Chengbei Shangjie, Dongsheng Street, Shuangliu District, Chengdu, 610200, Sichuan Province, China
Hao Yu
Department of Medical Laboratory, The First People's Hospital of Shuangliu, Chengdu/West China (Airport) Hospital Sichuan University, No.120, Chengbei Shangjie, Dongsheng Street, Shuangliu District, Chengdu, 610200, Sichuan Province, China
Ya Li
Department of Medical Laboratory, The First People's Hospital of Shuangliu, Chengdu/West China (Airport) Hospital Sichuan University, No.120, Chengbei Shangjie, Dongsheng Street, Shuangliu District, Chengdu, 610200, Sichuan Province, China
Aiping Bao
Department of Medical Laboratory, The First People's Hospital of Shuangliu, Chengdu/West China (Airport) Hospital Sichuan University, No.120, Chengbei Shangjie, Dongsheng Street, Shuangliu District, Chengdu, 610200, Sichuan Province, China
Jin Zhang
Department of Medical Laboratory, The First People's Hospital of Shuangliu, Chengdu/West China (Airport) Hospital Sichuan University, No.120, Chengbei Shangjie, Dongsheng Street, Shuangliu District, Chengdu, 610200, Sichuan Province, China; Corresponding author.
Qin Lv
Department of Respiratory and Critical Care Medicine, Sichuan Provincial People's Hospital, No.32, West 2nd Section, 1st Ring Road, Qingyang District, Chengdu, 610072, Sichuan Province, China; Corresponding author.
This paper presents a detailed analysis of a case initially misdiagnosed as Idiopathic Thrombocytopenic Purpura (ITP), which was later correctly identified as MYH9-related disease (MYH9-RD), a rare genetic disorder characterized by thrombocytopenia, large platelets, and Döhle-like inclusion bodies in neutrophils. Using advanced slide reading technology, our team identified hallmark features of MYH9-RD in the patient's blood samples, leading to genetic testing that confirmed a spontaneous mutation in the MYH9 gene. This report highlights the diagnostic journey, emphasizing the crucial role of recognizing specific hematologic signs to accurately diagnose MYH9-RD. By comparing our findings with existing literature, we highlight the genetic underpinnings and clinical manifestations of MYH9-RD, emphasizing the necessity for heightened awareness and diagnostic precision in clinical practice to prevent similar cases of misdiagnosis. This case demonstrates the importance of integrating genetic testing into routine diagnostic protocols for unexplained thrombocytopenia, paving the way for improved patient care and treatment outcomes.
