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Last Posted: Feb 02, 2023
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Understanding how educational interventions improve treatment adherence in patients with familial hypercholesterolaemia: a systematic review
H Massey et al, J Community Genetics, December 13, 2022

Four themes were identified as important when using education to improve treatment adherence: involving family, patient empowerment, practical problem solving and use of information leaflets. Educational interventions improve short term treatment adherence in patients with FH. Successful interventions are those that involve the whole family, set practical problem solving tasks, and that use techniques to increase the patients self-efficacy.

Familial Hypercholesterolemia Screening in Children and Adolescents in the United States: Where Are We Heading?
M Clyne et al, CDC Blog Post, October 14, 2022 Brand

Familial Hypercholesterolemia (FH) is a genetic condition that results in elevated levels of low-density lipoprotein cholesterol (LDL-C) from birth, resulting in increased risk of heart disease and myocardial infarction. A 2021 blog from our office highlighted the prevalence of FH, diagnostic strategies, treatment management of those with FH, and the public health importance of identifying people with FH. The blog highlights the benefit of earlier age of diagnosis since recommendations for prevention of atherosclerotic cardiovascular disease (ASCVD) includes treatment to lower LDL-C at a younger age.

A pragmatic clinical trial of cascade testing for familial hypercholesterolemia.
Miller Alexandra A et al. Genetics in medicine : official journal of the American College of Medical Genetics 2022 9

We compared new cases detected per index case in familial hypercholesterolemia (FH) families with or without an identifiable monogenic etiology. We enrolled 52 FH probands with a pathogenic variant (FHg+) in LDLR, APOB, or PCSK9 and 73 probands without such a variant (FHg–). New case detection rate was significantly higher in FH families with a monogenic etiology than in those without such an etiology owing to greater uptake and yield of cascade testing.

Personal Stories
Family Heart Foundation, September 2022

The Journey to Accepting My FH Diagnosis- “We lost her unexpectedly. From the outside, she had no indication something was wrong.” Charlotte was only 17 when her mother passed away from a heart attack. “She was so petite, and she lived a very stress-free life. She was radiant and active and you would have never known she had heart disease.”

Disclaimer: Articles listed in the Public Health Genomics and Precision Health Knowledge Base are selected by the CDC Office of Public Health Genomics to provide current awareness of the literature and news. Inclusion in the update does not necessarily represent the views of the Centers for Disease Control and Prevention nor does it imply endorsement of the article's methods or findings. CDC and DHHS assume no responsibility for the factual accuracy of the items presented. The selection, omission, or content of items does not imply any endorsement or other position taken by CDC or DHHS. Opinion, findings and conclusions expressed by the original authors of items included in the update, or persons quoted therein, are strictly their own and are in no way meant to represent the opinion or views of CDC or DHHS. References to publications, news sources, and non-CDC Websites are provided solely for informational purposes and do not imply endorsement by CDC or DHHS.