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.

Introduction: Familial hypercholesterolaemia (FH) is a genetic disorder associated with high cholesterol levels and an increased risk of premature cardiovascular events. Rare forms, such as semi-dominant bi-allelic mutations, pose diagnostic and therapeutic challenges. Misdiagnosis of FH is a significant concern, as highlighted by both this case and a review of the literature.