Why the study?
Homozygous familial hypercholesterolaemia is a rare genetic disorder that often leads to accelerated coronary atherosclerosis presenting within the first two decades of life, requiring timely diagnosis and appropriate therapy.
This case highlights the critical need for early diagnosis and aggressive multimodal therapy, including revascularization, intensive lipid-lowering medications, and ICD placement, in pediatric patients with homozygous familial hypercholesterolemia to prevent fatal cardiovascular events.
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Raises awareness for early HoFH detection in adolescents; leaves open optimal pediatric management strategies.
Familial hypercholesterolaemia is a genetic disorder secondary to mutation of one or more of the genes critical for low-density lipoprotein cholesterol (LDL-C) metabolism; these mutation(s) cause highly elevated serum LDL-C, significantly increasing the risk of early cardiovascular events and mortality. Homozygous familial hypercholesterolaemia (HoFH) is rare and often leads to accelerated coronary atherosclerosis presenting within the first two decades of life. We report a case of a 14-year-old boy who presented after surviving a ventricular fibrillation cardiac arrest. His highly elevated LDL-C level prompted further workup and led to a diagnosis of HoFH. The treatment included medical therapy and coronary artery bypass grafting. The patient also required referral for lipid apheresis to meet goal LDL-C level, and an automated implantable cardioverter defibrillator for secondary prevention of sudden cardiac death. HoFH, if left untreated, can have devastating consequences Therefore, timely diagnosis initiating appropriate therapy is important.
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Kumar et al. (2021) studied this question.
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