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Patient was wrongly diagnosed and repeatedly treated for immune thrombocytopenia for 50 years
2018 (Swedish)In: Läkartidningen, ISSN 0023-7205, E-ISSN 1652-7518, Vol. 115, article id EY3IArticle in journal (Refereed) Published
Abstract [sv]

We report on a patient with inherited macrothrombocytopenia, MYH9 related disease (MYH9-RD). The patient was wrongly diagnosed and repeatedly treated for immune thrombocytopenia (ITP) for nearly 50 years. Cases of misdiagnosed MYH9-RD and other hereditary thrombocytopenias have been described previously. Typical clinical features such as renal failure and/or progressive loss of hearing should give grounds to suspect hereditary thrombocytopenia. Initial laboratory diagnosis can start with a simple blood smear followed by immunohistochemistry and genotyping. Therapy with thrombopoietin receptor agonists may be beneficial in selected cases of MYH9-RD. ITP treatments including splenectomy are not indicated and may cause harm.

Place, publisher, year, edition, pages
2018. Vol. 115, article id EY3I
National Category
Hematology
Identifiers
URN: urn:nbn:se:uu:diva-348096PubMedID: 29533410OAI: oai:DiVA.org:uu-348096DiVA, id: diva2:1196654
Available from: 2018-04-10 Created: 2018-04-10 Last updated: 2018-04-10

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