The Lifelong Burden of Homozygous Familial Hypercholesterolemia

Publication date: Available online 13 June 2019Source: Canadian Journal of CardiologyAuthor(s): Ambuja Banerjee, Latifah Alothman, Patrick Couture, Jean Bergeron, Alexandre M. Bélanger, Isabelle Ruel, Jacques GenestAbstractHomozygous familial hypercholesterolemia (HoFH) is caused by mutations in the LDLR gene. It is diagnosed in children or youth presenting with extensive tendinous and cutaneous xanthomas and extreme elevation of LDL-cholesterol. Untreated, premature coronary artery disease develops in the teenage years or earlier and survival above 30 years of age is rare. Here we describe the clinical course of a patient with HoFH treated according to the standards of care and experimental approaches. Despite aggressive therapies, atherosclerosis in all vascular beds progressed, leading to the patient’s demise at age 59, pointing out the importance of early diagnosis and appropriate follow-up.
Source: Canadian Journal of Cardiology - Category: Cardiology Source Type: research