FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2890989801> ?p ?o ?g. }

• W2890989801 endingPage "125" @default.
• W2890989801 startingPage "118" @default.
• W2890989801 abstract "•HFE hemochromatosis has become less and less severe over the last 30 years despite older age at diagnosis. •Chronic fatigue and distal arthralgias remain the most frequent opening symptoms. •Reduced alcohol intake and more overweight patients may explain decreased long-term iron load in hemochromatosis. •Tobacco smoking may aggravate iron loading. Background & Aims Genetic hemochromatosis is mainly related to the homozygous p.Cys282Tyr (C282Y) mutation in the HFE gene, which causes hepcidin deficiency. Its low penetrance suggests the involvement of cofactors that modulate its expression. We aimed to describe the evolution of disease presentation and of non-genetic factors liable to impact hepcidin production in the long term. Methods Clinical symptoms, markers of iron load, and risk factors according to the year of diagnosis were recorded over 30 years in a cohort of adult C282Y homozygotes. A total of 2,050 patients (1,460 probands [804 males and 656 females] and 542 relatives [244 males and 346 females]) were studied. Results Over time: (i) the proband-to-relative ratio remained roughly stable; (ii) the gender ratio tended towards equilibrium among probands; (iii) age at diagnosis did not change among males and increased among females; (iv) the frequency of diabetes and hepatic fibrosis steadily decreased while that of chronic fatigue and distal joint symptoms remained stable; (v) transferrin saturation, serum ferritin and the amount of iron removed decreased; and (vi) the prevalence of excessive alcohol consumption decreased while that of patients who were overweight increased. Tobacco smoking was associated with increased transferrin saturation. Conclusion Genetic testing did not alter the age at diagnosis, which contrasts with the dramatic decrease in iron load in both genders. Tobacco smoking could be involved in the extent of iron loading. Besides HFE testing, which enables the diagnosis of minor forms of the disease, the reduction of alcohol consumption and the increased frequency of overweight patients may have played a role in the decreased long-term iron load, as these factors are likely to improve hepcidin production. Lay summary Genetic hemochromatosis is an inherited disorder that leads to progressive iron overload in the body. It results in chronic fatigue and in potential liver (cirrhosis), pancreas (diabetes) and joint (arthritis) damage in adulthood. The present study showed that tobacco smoking may aggravate iron loading, but that hemochromatosis has become less and less severe over the last 30 years despite patients being older at diagnosis, likely because of the protective effects of lower alcohol consumption and of increased weight in the French population. Genetic hemochromatosis is mainly related to the homozygous p.Cys282Tyr (C282Y) mutation in the HFE gene, which causes hepcidin deficiency. Its low penetrance suggests the involvement of cofactors that modulate its expression. We aimed to describe the evolution of disease presentation and of non-genetic factors liable to impact hepcidin production in the long term. Clinical symptoms, markers of iron load, and risk factors according to the year of diagnosis were recorded over 30 years in a cohort of adult C282Y homozygotes. A total of 2,050 patients (1,460 probands [804 males and 656 females] and 542 relatives [244 males and 346 females]) were studied. Over time: (i) the proband-to-relative ratio remained roughly stable; (ii) the gender ratio tended towards equilibrium among probands; (iii) age at diagnosis did not change among males and increased among females; (iv) the frequency of diabetes and hepatic fibrosis steadily decreased while that of chronic fatigue and distal joint symptoms remained stable; (v) transferrin saturation, serum ferritin and the amount of iron removed decreased; and (vi) the prevalence of excessive alcohol consumption decreased while that of patients who were overweight increased. Tobacco smoking was associated with increased transferrin saturation. Genetic testing did not alter the age at diagnosis, which contrasts with the dramatic decrease in iron load in both genders. Tobacco smoking could be involved in the extent of iron loading. Besides HFE testing, which enables the diagnosis of minor forms of the disease, the reduction of alcohol consumption and the increased frequency of overweight patients may have played a role in the decreased long-term iron load, as these factors are likely to improve hepcidin production." @default.
• W2890989801 created "2018-09-27" @default.
• W2890989801 creator A5016419093 @default.
• W2890989801 creator A5022945624 @default.
• W2890989801 creator A5024858582 @default.
• W2890989801 creator A5026431693 @default.
• W2890989801 creator A5037387825 @default.
• W2890989801 creator A5040148016 @default.
• W2890989801 creator A5083135231 @default.
• W2890989801 creator A5087331351 @default.
• W2890989801 date "2019-01-01" @default.
• W2890989801 modified "2023-10-17" @default.
• W2890989801 title "Reduced phenotypic expression in genetic hemochromatosis with time: Role of exposure to non-genetic modifiers" @default.
• W2890989801 cites W111929258 @default.
• W2890989801 cites W1607174224 @default.
• W2890989801 cites W1985533627 @default.
• W2890989801 cites W1987171553 @default.
• W2890989801 cites W1994105367 @default.
• W2890989801 cites W1998872310 @default.
• W2890989801 cites W2007453053 @default.
• W2890989801 cites W2032542021 @default.
• W2890989801 cites W2035789303 @default.
• W2890989801 cites W2052544197 @default.
• W2890989801 cites W2057086979 @default.
• W2890989801 cites W2083597288 @default.
• W2890989801 cites W2084781544 @default.
• W2890989801 cites W2086823635 @default.
• W2890989801 cites W2086956841 @default.
• W2890989801 cites W2088475546 @default.
• W2890989801 cites W2094174828 @default.
• W2890989801 cites W2094559035 @default.
• W2890989801 cites W2104135649 @default.
• W2890989801 cites W2116374020 @default.
• W2890989801 cites W2125112185 @default.
• W2890989801 cites W2142792785 @default.
• W2890989801 cites W2145240349 @default.
• W2890989801 cites W4211070211 @default.
• W2890989801 doi "https://doi.org/10.1016/j.jhep.2018.09.009" @default.
• W2890989801 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/30244162" @default.
• W2890989801 hasPublicationYear "2019" @default.
• W2890989801 type Work @default.
• W2890989801 sameAs 2890989801 @default.
• W2890989801 citedByCount "15" @default.
• W2890989801 countsByYear W28909898012019 @default.
• W2890989801 countsByYear W28909898012020 @default.
• W2890989801 countsByYear W28909898012021 @default.
• W2890989801 countsByYear W28909898012022 @default.
• W2890989801 countsByYear W28909898012023 @default.
• W2890989801 crossrefType "journal-article" @default.
• W2890989801 hasAuthorship W2890989801A5016419093 @default.
• W2890989801 hasAuthorship W2890989801A5022945624 @default.
• W2890989801 hasAuthorship W2890989801A5024858582 @default.
• W2890989801 hasAuthorship W2890989801A5026431693 @default.
• W2890989801 hasAuthorship W2890989801A5037387825 @default.
• W2890989801 hasAuthorship W2890989801A5040148016 @default.
• W2890989801 hasAuthorship W2890989801A5083135231 @default.
• W2890989801 hasAuthorship W2890989801A5087331351 @default.
• W2890989801 hasBestOaLocation W28909898012 @default.
• W2890989801 hasConcept C104317684 @default.
• W2890989801 hasConcept C126322002 @default.
• W2890989801 hasConcept C127716648 @default.
• W2890989801 hasConcept C134018914 @default.
• W2890989801 hasConcept C153852466 @default.
• W2890989801 hasConcept C188997412 @default.
• W2890989801 hasConcept C200544954 @default.
• W2890989801 hasConcept C2776590208 @default.
• W2890989801 hasConcept C2776768029 @default.
• W2890989801 hasConcept C2777357209 @default.
• W2890989801 hasConcept C2778248108 @default.
• W2890989801 hasConcept C2778319317 @default.
• W2890989801 hasConcept C2780586474 @default.
• W2890989801 hasConcept C3018783601 @default.
• W2890989801 hasConcept C3019184707 @default.
• W2890989801 hasConcept C42407357 @default.
• W2890989801 hasConcept C501734568 @default.
• W2890989801 hasConcept C511355011 @default.
• W2890989801 hasConcept C54355233 @default.
• W2890989801 hasConcept C555293320 @default.
• W2890989801 hasConcept C71924100 @default.
• W2890989801 hasConcept C86803240 @default.
• W2890989801 hasConcept C90924648 @default.
• W2890989801 hasConceptScore W2890989801C104317684 @default.
• W2890989801 hasConceptScore W2890989801C126322002 @default.
• W2890989801 hasConceptScore W2890989801C127716648 @default.
• W2890989801 hasConceptScore W2890989801C134018914 @default.
• W2890989801 hasConceptScore W2890989801C153852466 @default.
• W2890989801 hasConceptScore W2890989801C188997412 @default.
• W2890989801 hasConceptScore W2890989801C200544954 @default.
• W2890989801 hasConceptScore W2890989801C2776590208 @default.
• W2890989801 hasConceptScore W2890989801C2776768029 @default.
• W2890989801 hasConceptScore W2890989801C2777357209 @default.
• W2890989801 hasConceptScore W2890989801C2778248108 @default.
• W2890989801 hasConceptScore W2890989801C2778319317 @default.
• W2890989801 hasConceptScore W2890989801C2780586474 @default.
• W2890989801 hasConceptScore W2890989801C3018783601 @default.
• W2890989801 hasConceptScore W2890989801C3019184707 @default.
• W2890989801 hasConceptScore W2890989801C42407357 @default.
• W2890989801 hasConceptScore W2890989801C501734568 @default.

• next