Severe Heterozygous Familial Hypercholesterolemia and Elevated Lipoprotein(a): A Double Whammy

A 47-year-old African American female presented to the Preventive Cardiology program with heterozygous familial hypercholesterolemia (HeFH), with a pathogenic variant in LDLR (c.582C>T(p.Glu228*)) and an LDL-C level of 262 mg/dL on alirocumab 150 mg biweekly and ezetimibe 10 mg daily. She was intolerant to statins due to myalgias. Family history was notable for her mother who died from an MI at age 50, her maternal aunt who had CABG in her 60s, and a maternal cousin who died from an MI at age 52.

Source: Journal of Clinical Lipidology - July 1, 2023 Category: Lipidology Authors: Lakshmi Parvathinathan, Isaac Elysee, Archna Bajaj Tags: Complex or Unusual Cases in Lipid Management Source Type: research