Seventeen years of misdiagnosis in rare dyslipidaemia: a case report of sitosterolaemia in a young female.
Tanja Charlotte FrederiksenMartin Bødtker MortensenHelle Lynge KanstrupPublished in: European heart journal. Case reports (2021)
Sitosterolaemia presents with multiple manifestations, which can initially be misinterpreted leading to prolonged misdiagnosis. Early diagnosis is key in order to relieve symptoms and prevent CAD.