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

Jakub Dyczko; Filip Kruczek; Krystian Mączka; Daniel Grobecki; Bartosz Świrad; Mateusz Korowacki; Iga  Rusin; Karol Kazimierczak; Amadea Wrzesińska; Michał Przybylski

doi:10.31435/ijitss.3(51).2026.5927

Authors

Jakub Dyczko 4th Military Clinical Hospital with Polyclinic SP ZOZ in Wroclaw, Rudolfa Weigla 5, 50-981 Wroclaw, Poland https://orcid.org/0009-0006-6401-3945
Filip Kruczek 4th Military Clinical Hospital with Polyclinic SP ZOZ in Wroclaw, Rudolfa Weigla 5, 50-981 Wrocław, Poland https://orcid.org/0009-0002-3082-1435
Krystian Mączka University Clinical Hospital in Wroclaw, Borowska 213, 50-556 Wrocław, Poland https://orcid.org/0000-0002-9747-7926
Daniel Grobecki University Clinical Hospital in Wroclaw, Borowska 213, 50-556 Wrocław, Poland https://orcid.org/0009-0005-1724-7784
Bartosz Świrad 4th Military Clinical Hospital with Polyclinic SP ZOZ in Wroclaw, Rudolfa Weigla 5, 50-981 Wrocław, Poland https://orcid.org/0009-0008-8158-7697
Mateusz Korowacki University Clinical Hospital in Wroclaw, Borowska 213, 50-556 Wrocław, Poland https://orcid.org/0009-0003-8100-3026
Iga Rusin 4th Military Clinical Hospital with Polyclinic SP ZOZ in Wroclaw, Rudolfa Weigla 5, 50-981 Wroclaw, Poland https://orcid.org/0009-0002-4736-6571
Karol Kazimierczak 4th Military Clinical Hospital with Polyclinic SP ZOZ in Wroclaw, Rudolfa Weigla 5, 50-981 Wroclaw, Poland https://orcid.org/0009-0007-3748-5477
Amadea Wrzesińska 4th Military Clinical Hospital with Polyclinic SP ZOZ in Wroclaw, Rudolfa Weigla 5, 50-981 Wrocław, Poland https://orcid.org/0009-0001-5394-3446
Michał Przybylski 4th Military Clinical Hospital with Polyclinic SP ZOZ in Wroclaw, Rudolfa Weigla 5, 50-981 Wrocław, Poland https://orcid.org/0009-0007-8717-7392

DOI:

https://doi.org/10.31435/ijitss.3(51).2026.5927

Keywords:

Familial Hypercholesterolemia, Young Adults, Cascade Screening, Genetic Testing, Early Diagnosis, Guideline Implementation, Lipid-Lowering Therapy

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.

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