A family with an MYH9-related disorder with different phenotypes masquerading as immune thrombocytopaenia: an underreported disorder in Taiwan
Journal
International Journal of Hematology
Journal Volume
112
Journal Issue
6
Pages
878-882
Date Issued
2020
Author(s)
Abstract
A 66-year-old woman had experienced abnormal bleeding since the age of 7. Thrombocytopenia was not detected until she was 48, and immune thrombocytopenia was diagnosed at age 66. She also reported experiencing hearing disturbance since the age of 30 and acute renal failure since the age of 61 but reported no visual disturbance. Her younger son, who was 40 years old, also experienced abnormal bleeding since the age of 6, but immune thrombocytopenia was diagnosed as late as age 35. He had no other associated disorders. Laboratory examinations of both mother and son revealed a low platelet count (8000 and 29,000??L, respectively), giant platelets and D?hle body-like granulocyte inclusion bodies. The mother had a high creatinine level (15.4?mg/dL) and normal liver enzyme levels. MYH9 genetic analysis identified a heterozygous mutation, c.101T>A, p.Val34Glu at exon 2 in both patients. These clinical and laboratory findings were consistent with a diagnosis of an MYH9-related disorder with different phenotypes observed in the same family. MYH9-related disorders were recognised in 2003, but were often misdiagnosed as immune thrombocytopenia, and hence, they have rarely been reported in Taiwan. ? 2020, Japanese Society of Hematology.
Subjects
Immune thrombocytopenia; May–Hegglin anomaly; MYH9; MYH9 mutation; MYH9-related disorder
SDGs
Other Subjects
blood clotting factor 8; creatinine; immunoglobulin; myosin heavy chain; myosin heavy chain 9; nitrogen; steroid; unclassified drug; urea; von Willebrand factor; biological marker; creatinine; MYH9 protein, human; myosin heavy chain; acute kidney failure; aged; anemia; Article; autosomal inheritance; bleeding; blood smear; case report; cataract; cell inclusion; clinical article; contusion; creatinine blood level; disease severity; epistaxis; eye examination; family history; female; gene mutation; genetic analysis; hearing disorder; hearing test; high throughput sequencing; human; idiopathic thrombocytopenic purpura; immunosuppressive treatment; laboratory test; May Hegglin anomaly; mean platelet volume; perception deafness; platelet count; platelet volume; Sanger sequencing; shift to the right; shock; skin abrasion; steroid therapy; Taiwan; thrombocyte transfusion; traffic accident; urea nitrogen blood level; adult; blood; cytology; differential diagnosis; genetics; granulocyte; idiopathic thrombocytopenic purpura; male; middle aged; mother child relation; mutation; pathology; perception deafness; phenotype; thrombocyte; thrombocytopenia; Adult; Aged; Biomarkers; Blood Platelets; Creatinine; Diagnosis, Differential; Female; Granulocytes; Hearing Loss, Sensorineural; Humans; Inclusion Bodies; Male; Middle Aged; Mother-Child Relations; Mutation; Myosin Heavy Chains; Phenotype; Platelet Count; Purpura, Thrombocytopenic, Idiopathic; Taiwan; Thrombocytopenia
Type
journal article