Familial hypercholesterolemia: physical signs and new gene therapies

Medical research highlights the importance of physical indicators in identifying familial hypercholesterolemia. Visible signs, such as xanthelasmas (yellowish fat deposits on the eyelids), corneal changes like arcus senilis, and xanthomas on the Achilles tendon, can serve as critical warning signals. Experts note that xanthelasmas can increase the risk of a heart attack by 48 percent, even when blood cholesterol levels appear to be within a normal range.

To address the challenges of managing this genetic condition, new therapeutic approaches are being developed. While monoclonal antibodies targeting the PCSK9 enzyme have proven effective at lowering LDL cholesterol, patient adherence remains a significant issue, with 30 to 50 percent of patients discontinuing regular treatment within a year. Consequently, biotech companies, including one acquired by Eli Lilly, are working on gene therapies to provide more permanent long-term treatment options for those with genetic predispositions to extremely high cholesterol.