Different mother and daughter manifestations due to very high cholesterol-containing lipoproteins

J. Hwang, B. Cheung, R.C. Block

University of Rochester School of Medicine and Dentistry, Rochester, NY, USA. robert_block@urmc.rochester.edu

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• Pharmacology

OBJECTIVE: Familial hypercholesterolemia (FH) is an autosomal codominant genetic disorder associated with defective hepatic uptake of circulating low-density lipoproteins (LDL), which can lead to premature atherosclerotic cardiovascular disease (ASCVD). Evidence suggests elevated lipoprotein(a) (Lp(a)) levels in FH patients may also increase their ASCVD risk. We present a case series of 2 FH patients where a daughter has a higher ASCVD burden than her mother due to the daughter having elevated Lp(a). This underscores the importance of including Lp(a) in cascade lipid screening in FH patients and their first-degree relatives.

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