Patient fick rätt diagnos efter 50 års behandling för immunologisk trombocytopeni
Engelsk titel: Patient was wrongly diagnosed and repeatedly treated for immune thrombocytopenia for 50 years
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Författare:
Cherif, Honar
;
Greinacher, Andreas
;
Lubenow, Norbert
Email: norbert.lubenow@akademiska.se
Språk: Swe
Antal referenser: 7
Dokumenttyp:
Fallbeskrivning
UI-nummer: 18040102
Sammanfattning
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.