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001-es BibID:	BIBFORM102577
035-os BibID:	(WoS)000833358700001 (Scopus)85133387423
Első szerző:	Berta Eszter (belgyógyász)
Cím:	Clinical Aspects of Genetic and Non-Genetic Cardiovascular Risk Factors in Familial Hypercholesterolemia / Berta Eszter, Zsíros Noémi, Bodor Miklós, Balogh István, Lőrincz Hajnalka, Paragh György, Harangi Mariann
Dátum:	2022
ISSN:	2073-4425
Megjegyzések:	Abstract: Familial hypercholesterolemia (FH) is the most common monogenic metabolic disorder characterized by considerably elevated low-density lipoprotein cholesterol (LDL-C) levels leading to enhanced atherogenesis, early cardiovascular disease (CVD), and premature death. However, the wide phenotypic heterogeneity in FH makes the cardiovascular risk prediction challenging in clinical practice to determine optimal therapeutic strategy. Beyond the lifetime LDL-C vascular accumulation, other genetic and non-genetic risk factors might exacerbate CVD development. Besides the most frequent variants of three genes (LDL-R, APOB, and PCSK9) in some proband variants of other genes implicated in lipid metabolism and atherogenesis are responsible for FH phenotype. Furthermore, non-genetic factors, including traditional cardiovascular risk factors, metabolic and endocrine disorders might also worsen risk profile. Although some were extensively studied previously, others, such as common endocrine disorders including thyroid disorders or polycystic ovary syndrome are not widely evaluated in FH. In this review, we summarize the most important genetic and non-genetic factors that might affect the risk prediction and therapeutic strategy in FH through the eyes of clinicians focusing on disorders that might not be in the center of FH research. The review highlights the complexity of FH care and the need of an interdisciplinary attitude to find the best therapeutic approach in FH patients.
Tárgyszavak:	Orvostudományok Klinikai orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban folyóiratcikk familial hypercholesterolemia genetic factors risk stratification endocrine diseases high-density lipoprotein thyroid diabetes mellitus polycystic ovary syndrome growth hormone
Megjelenés:	Genes. - 13 : 7 (2022), p. 1-19. -
További szerzők:	Zsíros Noémi (1986-) (belgyógyász) Bodor Miklós (1969-) (belgyógyász, endokrinológus) Balogh István (1972-) (molekuláris biológus, genetikus) Lőrincz Hajnalka (1986-) (biológus) Paragh György (1953-) (belgyógyász) Harangi Mariann (1974-) (belgyógyász, endokrinológus)
Pályázati támogatás:	Bridging Fund to MH (University of Debrecen Faculty of Medicine) Egyéb ÚNKP-21-4.2 New National Excellence Program of the Ministry for Innovation and Technology from the source of the National Research, Development and Innovation Fund Egyéb
Internet cím:	Szerző által megadott URL DOI Intézményi repozitóriumban (DEA) tárolt változat
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001-es BibID:	BIBFORM133501
Első szerző:	Nádró Bíborka (általános orvos)
Cím:	Diagnostic and Therapeutic Challenges of Homozygous and Severe Heterozygous Familial Hypercholesterolemia from Clinical Aspect : A Single-Center Study / Nádró Bíborka, Kaluha Judit, Lőrincz Hajnalka, Varga Éva, Balogh István, Harangi Mariann
Dátum:	2025
ISSN:	2077-0383
Megjegyzések:	Background/Objectives: The clinical presentation of homozygous familial hypercholesterolemia (HoFH) and severe heterozygous familial hypercholesterolemia (sHeFH) often demonstrates substantial overlap, as low-density lipoprotein cholesterol (LDL-C) levels may fall within similar ranges in both conditions. Methods: In this single-center 10-year retrospective study at the University of Debrecen, Hungary, we present the clinical characteristics of patients with 6 HoFH and 6 sHeFH diagnosed by genetic testing, discuss the diagnostic limitations encountered in clinical practice, and outline the key components of therapeutic management. Results: The mean age at diagnosis was lower in the HoFH group (31.83 ? 19.5 vs. 41.83 ? 15.9 years). The differences in total cholesterol (13.48 ? 7.4 vs. 11.02 ? 3.5 mmol/L) and LDL-C levels (10.89 ? 6.6 vs. 8.58 ? 3.26 mmol/L) between the groups were not statistically significant. Interestingly, vascular complications were more frequent in sHeFH group as well (4 vs. 1 patients). In neither the HoFH nor the sHeFH group were we able to achieve the target LDL-C levels, due in part to the specific features of the reimbursement system, patient and parental preferences, the extremely high baseline LDL-C levels, and certain genetic characteristics. Conclusions: Our findings highlight the importance of genetic testing-based personalized therapy in these specific patient subpopulations. We emphasize that serum LDL-C alone is insufficient to distinguish between HoFH and sHeFH patients, and that therapeutic challenges should be anticipated in both groups arising partly from limited patient adherence as well as from financial constraints.
Tárgyszavak:	Orvostudományok Klinikai orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban folyóiratcikk familial hypercholesterolemia homozygous heterozygous low-density lipoprotein cholesterol genetic testing lipid-lowering therapies therapy resistance personalized medicine
Megjelenés:	Journal of Clinical Medicine. - 14 : 22 (2025), p. 1-15. -
További szerzők:	Kaluha Judit (1987-) (orvos) Lőrincz Hajnalka (1986-) (biológus) Varga Éva (1982-) (belgyógyász) Balogh István (1972-) (molekuláris biológus, genetikus) Harangi Mariann (1974-) (belgyógyász, endokrinológus)
Pályázati támogatás:	K142273 OTKA TKP2021-EGA-18 Egyéb
Internet cím:	Szerző által megadott URL DOI Intézményi repozitóriumban (DEA) tárolt változat
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