Homozygous familial hypercholesterolemia

Abstract

Evaluation of: Rocha VZ, Chacra AP, Salgado W et al. Extensive xanthomata and severe subclinical atherosclerosis in homozygous familial hypercholesterolemia. J. Am. Coll. Cardiol. 61(21), 2193 (2013). This paper evaluation summarizes a case report of homozygous familial hypercholesterolemia. The patient in this particular case presented with gross xanthomata, elevated LDL cholesterol and extant coronary arterial disease in early adulthood. The clinical diagnosis, physical signs and management of the condition are discussed and future treatment options for homozygous familial hypercholesterolemia are reviewed.

Keywords::

• antisense oligonucleotide
• apheresis
• coronary artery disease
• familial hypercholesterolemia
• homozygous
• microsomal transfer protein inhibitor
• xanthoma