Case Report: Beating the assumed prognosis: homozygous familial hypercholesterolemia with unexpected long survival

Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00023001%3A_____%2F25%3A00085933" target="_blank" >RIV/00023001:_____/25:00085933 - isvavai.cz</a>
Alternative codes found
RIV/00216208:11110/25:10505042 RIV/00064165:_____/25:10505042
Result on the web
<a href="https://www.frontiersin.org/journals/cardiovascular-medicine/articles/10.3389/fcvm.2025.1643771/full#h10" target="_blank" >https://www.frontiersin.org/journals/cardiovascular-medicine/articles/10.3389/fcvm.2025.1643771/full#h10</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.3389/fcvm.2025.1643771" target="_blank" >10.3389/fcvm.2025.1643771</a>

Result language
angličtina
Original language name
Case Report: Beating the assumed prognosis: homozygous familial hypercholesterolemia with unexpected long survival
Original language description
Background: Familial hypercholesterolemia (FH) is a common autosomal codominant genetic disorder, with heterozygous FH (HeFH) affecting approximately 1 in 310 individuals. FH is characterized by elevated low-density lipoprotein cholesterol (LDL-C) levels, which are typically twice those of unaffected individuals, and by a markedly increased risk of premature atherosclerotic cardiovascular disease (ASCVD). Homozygous FH (HoFH) is rarer and presents substantial phenotypic variability, with total cholesterol levels ranging from 13 to 55 mmol/L. Case presentations: We report three atypical cases of HoFH, with one patient being a homozygote for the c.1775G > A (p.Gly592Glu) variant and two patients being compound heterozygotes (c.340T > A/c.1775G > A, p.Phe114Ile/p.Gly592Glu and c.761A > C/c.910G > A, p.Gln254Pro/p.Asp304Tyr). All the patients presented with relatively mild clinical phenotypes, delayed diagnoses, and no evidence of early-onset ASCVD. Conclusions: These cases underscore the clinical heterogeneity of HoFH and challenge the prevailing assumption that HoFH uniformly results in severe cardiovascular outcomes. Personalized treatment strategies are essential for improving prognoses and quality of life of affected individuals.
Czech name
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Czech description
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Type
J<sub>imp</sub> - Article in a specialist periodical, which is included in the Web of Science database
CEP classification
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OECD FORD branch
30201 - Cardiac and Cardiovascular systems

Project
<a href="/en/project/LX22NPO5104" target="_blank" >LX22NPO5104: National Institute for Research of Metabolic and Cardiovascular Diseases</a><br>
Continuities
I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Publication year
2025
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

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