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A family with an MYH9-related disorder with different phenotypes masquerading as immune thrombocytopaenia: an underreported disorder in Taiwan

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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 µL, respectively), giant platelets and Döhle 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.

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Acknowledgements

The authors would like to thank the patient who participated in this study, as well as Enago (www.enago.tw) for the English language review. We are grateful for the kind help of Professor WL Hwu and his teams, Department of Medical Genetics. National Taiwan University Hospital to perform the NGS genetic analysis for this patient.

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Author notes

  1. Ying-Chih Huang and Yu-Hung Shih contributed equally to this manuscript.

Authors and Affiliations

  1. Department of Research, Changhua Christian Hospital, No. 135, Nanxiao Street, Changhua City, Taiwan

    Ying-Chih Huang

  2. Department of Internal Medicine, Changhua Christian Hospital, Changhua City, Taiwan

    Yu-Hung Shih, Ching-Yeh Lin, Ping-Fang Chiu & Ming-Ching Shen

  3. Department of Laboratory Medicine, Changhua Christian Hospital, Changhua City, Taiwan

    Su-Feng Kuo & Jen-Shiou Lin

  4. Department of Laboratory Medicine, National Taiwan University Hospital, Taipei, Taiwan

    Ming-Ching Shen

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  1. Ying-Chih Huang
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Correspondence to Ming-Ching Shen.

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Huang, YC., Shih, YH., Lin, CY. et al. A family with an MYH9-related disorder with different phenotypes masquerading as immune thrombocytopaenia: an underreported disorder in Taiwan. Int J Hematol 112, 878–882 (2020). https://doi.org/10.1007/s12185-020-02947-1

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  • DOI: https://doi.org/10.1007/s12185-020-02947-1

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