Early-onset valvular dysfunction as a presentation of familial hypercholesterolemia due to LDL receptor mutation and response to LDL apheresis

This report describes the case of a 5-year-old female with homozygous familial hypercholesterolemia (HoFH), presenting with severe hypercholesterolemia, premature aortic stenosis, and skin lesions. Despite aggressive treatment with statins, ezetimibe, niacin, and PCSK9 inhibitors, her LDL cholesterol (LDL-C) levels remained persistently elevated. She underwent aortic valve replacement and was treated with LDL apheresis, which temporarily reduced LDL-C levels but required repeated procedures. The case highlights the challenges of managing HoFH, especially in patients with minimal LDL receptor activity, where traditional lipid-lowering therapies often prove inadequate. The report emphasizes the need for early diagnosis, vigilant management of both atherosclerotic and valvular complications, and the consideration of advanced therapies like LDL apheresis and novel pharmacological agents. This case underscores the complexity of HoFH and the importance of individualized, multimodal treatment strategies to improve patient outcomes.