Compound heterozygous low-density lipoprotein receptor variants causing homozygous of familial hypercholesterolemia in two sisters: a case report

This study underscores the critical importance of early diagnosis and treatment in HoFH and highlights the necessity for ongoing research into more effective therapeutic strategies. Through this report, we aim to deepen the understanding of HoFH's complexity and foster the development of improved treatment protocols. Ultimately, our in-depth analysis aspires to provide a scientific foundation for early diagnosis, risk assessment, personalized therapy, and comprehensive management of FH, thereby alleviating the health burden imposed on affected patients and their families.