Resistance to conventional drug therapy and good response to lomitapide allowed the identification of a novel bi-allelic semi-dominant monogenic HoFH: a case report

This case underscores the importance of genetic testing in diagnosing rare forms of FH, such as semi-dominant bi-allelic mutations, which may lead to misdiagnosis. Lomitapide proved effective in controlling cholesterol levels, highlighting its value in managing complex FH cases. The literature review further emphasizes the critical need for improved diagnostic approaches to minimize the risk of misdiagnosis.