RESUMEN

MYH9-related disorder (MYH9-RD) is characterized by congenital macrothrombocytopenia and granulocyte inclusion bodies. MYH9-RD is often misdiagnosed as chronic immune thrombocytopenia. In this study, we investigated age at definitive diagnosis and indicative thrombocytopenia in 41 patients with MYH9-RD from the congenital thrombocytopenia registry in Japan. Our cohort comprises 54.8% adults over 18 years at confirmed diagnosis. We found a significant difference (p < 0.0001) between the median age at definitive diagnosis of 25.0 years and for indicative thrombocytopenia it was 9.0 years. Our findings strongly suggest diagnostic delay of MYH9-RD in Japan. Our registry system will continue to contribute to this issue.

Asunto(s)

Diagnóstico Tardío , Cadenas Pesadas de Miosina , Trombocitopenia , Humanos , Japón/epidemiología , Adulto , Trombocitopenia/diagnóstico , Trombocitopenia/genética , Trombocitopenia/congénito , Masculino , Femenino , Niño , Adolescente , Cadenas Pesadas de Miosina/genética , Persona de Mediana Edad , Preescolar , Adulto Joven , Lactante , Proteínas Motoras Moleculares/genética , Sistema de Registros , Pérdida Auditiva Sensorineural/diagnóstico , Pérdida Auditiva Sensorineural/genética , Anciano