A Multisystemic Presentation of Familial Hypercholesterolaemia: A Case Report

Xanthelasma palpebrarum is a common benign dermatologic condition, characterized by yellowish plaques typically found on the upper and lower eyelids. Although it is frequently perceived as a cosmetic concern, it can also serve as a clinical marker for underlying systemic disorders, particularly lipid metabolism abnormalities and hepatic dysfunction. This case report details the clinical journey of a 22-year-old female patient with history suggestive of familial hyperlipidemia (FH), presenting with extensive xanthomas across multiple anatomical sites, including tuberous xanthomas on the elbows, eruptive xanthomas on the hands and feet, and xanthelasma on the eyelids. She exhibited markedly elevated lipid profile parameters, with total cholesterol at 12.5 mmol/L (483 mg/dL), low-Density Lipoprotein cholesterol at 9.8 mmol/L (379 mg/dL), and triglycerides at 8.2 mmol/L (726 mg/dL), alongside a confirmed LDLR gene mutation indicative of heterozygous FH. Additionally, her medical history also revealed a family predisposition to early coronary artery disease, underscoring the genetic basis of her condition. Initial management with high-intensity statins and lifestyle modifications yielded limited efficacy, highlighting the therapeutic challenges posed by severe FH phenotypes. This case underscores the importance of a multidisciplinary diagnostic approach, integrating dermatologic, hepatic, and metabolic evaluations. Recognition of cutaneous markers like xanthelasma can facilitate early detection and management of cardiovascular and hepatic risk factors, thereby preventing long-term morbidity. Prompt lipid-lowering therapy, lifestyle modifications, and monitoring of liver function were initiated. The case highlights the critical role of dermatological signs in unveiling internal disease, advocating for heightened clinical vigilance even in seemingly benign presentations.

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