Patient fick rätt diagnos efter 50 års behandling för immunologisk trombocytopeni – Hade ärftlig trombocytopeni : [Patient was wrongly diagnosed and repeatedly treated for immune thrombocytopenia for 50 years]

• 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.

• Ärftliga trombocytopenier kan feldiagnostiseras som immunologisk trombocytopeni (ITP).Fel diagnos kan leda till onödig och overksam terapi.En enkel undersökning (blodfilm) kan inleda utredningen och leda till rätt diagnos för patienter med misstänkt MYH9-relaterad trombocytopeni.

Ämnesord

MEDICIN OCH HÄLSOVETENSKAP  -- Klinisk medicin -- Hematologi (hsv//swe)

MEDICAL AND HEALTH SCIENCES  -- Clinical Medicine -- Hematology (hsv//eng)

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