J Am Heart Assoc. 2025 Mar 21:e038458. doi: 10.1161/JAHA.124.038458. Online ahead of print.
ABSTRACT
Treatment of familial hypercholesterolemia is directed toward the moment of the medical encounter. However, risk for heart disease as a consequence of having familial hypercholesterolemia is related to lifelong exposure to elevated low-density lipoprotein cholesterol, rather than low-density lipoprotein cholesterol level at a specific time point. The purpose of this review is to reassess contemporary research on treatment of familial hypercholesterolemia and current evidence-based guidelines, to present an approach that emphasizes treatment across the life course, and to recognize the importance of family experiences to care. To accomplish this, we review the changing treatment needs that emerge across the life course, from birth through childhood, adolescence, young adulthood, peripregnancy, middle age, and late in life. Special attention is paid to improving adherence to treatment, the potential role of monitoring atherosclerosis in a lifelong model of care, and medical issues related to care transitions: from pediatric to internal medicine care, peripregnancy, after a cardiac event, and care after age 70 years in the absence of a cardiac event. Novel considerations related to treatment of homozygous familial hypercholesterolemia are discussed. The summary identifies research gaps that need to be closed to move from the current point-of-care model to one that considers treatment over the life course.
PMID:40118807 | DOI:10.1161/JAHA.124.038458
