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Case Report | Cardiology Science | Volume 15 Issue 6, June 2026 | Pages: 81 - 84 | India
From Genes to Hearts: Exploring the Challenges and Solutions in Familial Hypercholesterolemia
Abstract: Type IIa familial hypercholesterolemia (FH) is an autosomal dominant disorder characterized by elevated low-density lipoprotein cholesterol (LDL-C) levels, xanthomas, and an increased risk of premature cardiovascular disease. This case describes a 13-year-old girl presenting with tuberous xanthomas associated with cardiovascular abnormalities. The case was ultimately diagnosed as Type IIa FH, emphasizing the importance of recognizing familial hypercholesterolemia with histopathological and genetic analysis in patients with characteristic cutaneous and cardiovascular findings to initiate timely intervention and prevent cardiovascular sequelae.
Keywords: Familial hypercholesterolemia, tuberous xanthomas, xanthogranulomas, cardiovascular abnormalities
How to Cite?: Dr. Venkatesh Malali, Dr. Samantha Aster Pinto, Dr. Joel Piedade Quadros, Dr. L M Veeresh, "From Genes to Hearts: Exploring the Challenges and Solutions in Familial Hypercholesterolemia", Volume 15 Issue 6, June 2026, International Journal of Science and Research (IJSR), Pages: 81-84, https://www.ijsr.net/getabstract.php?paperid=SR26601200649, DOI: https://dx.dx.doi.org/10.21275/SR26601200649