FAMILIAL HYPERCHOLESTEROLEMIA IN YOUNG ADULTS: CHALLENGES IN DIAGNOSIS AND IMPLEMENTATION OF CURRENT GUIDELINES – A NARRATIVE REVIEW

Abstract

Background. Familial hypercholesterolemia (FH) is a common autosomal dominant genetic disorder associated with premature atherosclerotic cardiovascular disease. Despite established international guidelines, FH remains substantially underdiagnosed, particularly in young adults. Aim. This narrative review summarizes current evidence on diagnostic challenges and barriers to guideline implementation in this population. Methods. A narrative literature review was conducted using PubMed/MEDLINE, Scopus, and Web of Science databases. The review focused on evidence regarding FH epidemiology, diagnostic approaches, genetic testing, cascade screening, treatment strategies, and implementation gaps in young adults. Results. Registry data indicate that the median age of FH diagnosis is 44.4 years, suggesting delayed identification and prolonged exposure to elevated low-density lipoprotein cholesterol levels during early adulthood. In young adults, diagnosis is often limited by the absence of overt clinical signs, reducing the utility of clinical scoring systems such as the Dutch Lipid Clinic Network criteria. As a result, diagnosis relies primarily on lipid measurements, family history, and genetic testing. However, genetic testing and cascade screening remain underutilized in routine clinical practice. Conclusions. A persistent gap exists between guideline recommendations and real-world management of FH. Delayed diagnosis and suboptimal implementation of treatment strategies contribute to inadequate cardiovascular risk reduction in young adults. Improving early detection through enhanced use of genetic testing, optimization of cascade screening, and timely initiation of lipid-lowering therapy may reduce cumulative LDL-C exposure and improve long-term cardiovascular outcomes.