Heterozygous familial hypercholesterolemia case study

To examine a case of heterozygous familial hypercholesterolemia (HeFH) in a primary care setting and to review the epidemiology, pathophysiology, etiology, and treatment guidelines to reduce the mortality related to this disease process.

Findings from the history, physical exam, and laboratory results of a young French Canadian male presenting to a primary care office. Evidence-based literature search included Ovid MEDLINE, PubMed, National Lipid Association, and e-medicine website.

Familial hypercholesterolemia is a serious and common genetic disorder that results in premature atherosclerosis. Early screening, detection, and treatment are vital in order to reduce the associated morbidity and mortality.

Clinicians need to understand hypercholesterolemia and the atherogenic process. Physical exam and laboratory findings are key to the early identification and intervention for children and adults at risk for early cardiovascular disease.