This case report details the presentation and diagnosis of familial hypercholesterolemia (FH) in a 14-year-old girl who exhibited multiple xanthomas and persistent hypertension. Despite no family history of cardiovascular disorders, she presented with high blood pressure and characteristic skin lesions. Further investigations revealed hypercholesterolemia and a genetic mutation in the LDLR gene, confirming the diagnosis of FH. Treatment included statins and other medications to manage her cholesterol levels and blood pressure. The patient is under continuous follow-up, showing improvement in LDL levels and no development of hypertensionmediated organ damage. This case underscores the importance of considering FH in young patients with unexplained hypertension and xanthomas, highlighting the critical role of early diagnosis and intervention in preventing long-term cardiovascular complications.
No takes yet. Share an insight, caveat, or question.
Grover et al. (2024) studied this question.
Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context: