Case Report: Beating the assumed prognosis: homozygous familial hypercholesterolemia with unexpected long survival
Identifikátory výsledku
Kód výsledku v 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>
Nalezeny alternativní kódy
RIV/00216208:11110/25:10505042 RIV/00064165:_____/25:10505042
Výsledek na webu
<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>
Alternativní jazyky
Jazyk výsledku
angličtina
Název v původním jazyce
Case Report: Beating the assumed prognosis: homozygous familial hypercholesterolemia with unexpected long survival
Popis výsledku v původním jazyce
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.
Název v anglickém jazyce
Case Report: Beating the assumed prognosis: homozygous familial hypercholesterolemia with unexpected long survival
Popis výsledku anglicky
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.
Klasifikace
Druh
J<sub>imp</sub> - Článek v periodiku v databázi Web of Science
CEP obor
—
OECD FORD obor
30201 - Cardiac and Cardiovascular systems
Návaznosti výsledku
Projekt
<a href="/cs/project/LX22NPO5104" target="_blank" >LX22NPO5104: Národní institut pro výzkum metabolických a kardiovaskulárních onemocnění</a><br>
Návaznosti
I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace
Ostatní
Rok uplatnění
2025
Kód důvěrnosti údajů
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Údaje specifické pro druh výsledku
Název periodika
Frontiers in cardiovascular medicine
ISSN
2297-055X
e-ISSN
2297-055X
Svazek periodika
12
Číslo periodika v rámci svazku
October 2025
Stát vydavatele periodika
CH - Švýcarská konfederace
Počet stran výsledku
6
Strana od-do
"art. no. 1643771"
Kód UT WoS článku
001607116000001
EID výsledku v databázi Scopus
2-s2.0-105020710593