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Morbidity, risk of ...
Morbidity, risk of cancer and mortality in 3645 HFE mutations carriers
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- Hagstrom, H. (author)
- Karolinska Institutet
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- Ndegwa, N. (author)
- Karolinska Institutet
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- Jalmeus, M. (author)
- Department of Medicine, Huddinge, Karolinska Institutet, Stockholm, Sweden,Karolinska Inst, Dept Med, Huddinge, Sweden.
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- Ekstedt, Mattias (author)
- Linköpings universitet,Avdelningen för diagnostik och specialistmedicin,Medicinska fakulteten,Region Östergötland, Mag- tarmmedicinska kliniken,Linköping Univ, Div Diagnost & Specialist Med, Dept Hlth Med & Caring Sci, Linköping, Sweden.
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- Posserud, Iris, 1978 (author)
- Gothenburg University,Göteborgs universitet,Institutionen för medicin, avdelningen för invärtesmedicin och klinisk nutrition,Institute of Medicine, Department of Internal Medicine and Clinical Nutrition,Department of Internal Medicine and Clinical Nutrition, Institute of Medicine, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden,Univ Gothenburg, Sahlgrenska Acad, Inst Med, Dept Internal Med & Clin Nutr, Gothenburg, Sweden.
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- Rorsman, Fredrik, Docent, 1960- (author)
- Uppsala universitet,Gastroenterologi/hepatologi
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- Nyhlin, Nils, 1971- (author)
- Örebro universitet,Institutionen för medicinska vetenskaper,Region Örebro län,Department of Gastroenterology, Faculty of Medicine and Health, Örebro University, Örebro, Sweden,Örebro Univ, Fac Med & Hlth, Dept Gastroenterol, Örebro, Sweden.
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- Klintman, D. (author)
- Department of Gastroenterology and Hepatology, Skåne University Hospital, Lund and Malmö, Sweden,Skane Univ Hosp, Dept Gastroenterol & Hepatol, Malmö, Sweden.
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- Werner, Mårten (author)
- Umeå universitet,Avdelningen för medicin,Umeå Univ, Dept Publ Hlth & Clin Med, Med, Umeå, Sweden.
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- Marschall, Hanns-Ulrich, 1954 (author)
- Gothenburg University,Göteborgs universitet,Institutionen för medicin, avdelningen för molekylär och klinisk medicin,Institute of Medicine, Department of Molecular and Clinical Medicine,Department of Molecular and Clinical Medicine, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden,Univ Gothenburg, Sahlgrenska Acad, Dept Mol & Clin Med, Gothenburg, Sweden.
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- Askling, J. (author)
- Karolinska Institutet
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- Stal, P. (author)
- Karolinska Institutet
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(creator_code:org_t)
- 2021-01-26
- 2021
- English.
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In: Liver International. - : Wiley. - 1478-3223 .- 1478-3231. ; 41:3, s. 545-553
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Abstract
Subject headings
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- Background & Aims Mutations in the HFE gene can lead to hereditary haemochromatosis (HH) and have been suggested to increase the risk of extra-hepatic diseases, especially breast and colorectal cancer. Here we investigated long-term outcomes of Swedish patients with HFE mutations. Methods We identified 3645 patients with a homozygous p.C282Y (62%) or a compound heterozygous p.C282Y/p.H63D (38%) mutation from eight centres in Sweden between 1997 and 2017. These were matched 1:10 by age, sex and county of residence to reference individuals from the general population. We ascertained incident outcomes until the end of 2017 by linkage to national registers. Studied outcomes were HH, cirrhosis, hepatocellular carcinoma (HCC), breast cancer (in women), colorectal cancer, type 1 and 2 diabetes, hypothyroidism, Parkinson's disease and mortality. Cox proportional hazards regression was used to estimate hazard ratios for these outcomes. Results Median age at diagnosis was 52 years, 44% were females. During a mean follow-up of 7.9 years, we found an increased risk for HCC, HH, cirrhosis, type 2 diabetes, osteoarthritis and death. Excess mortality was only seen in men. No increased risk was seen for colorectal or breast cancer. Liver-related outcomes were rare, with a cumulative incidence of HFE mutation carriers in a university hospital setting had an increased risk for mortality in men, along with increased risks of cirrhosis, HCC, diabetes type 2, and osteoarthritis. In general, the absolute risk for adverse outcomes was low and no increased risk for colon or breast cancer was observed.
Subject headings
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine (hsv//eng)
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Cancer och onkologi (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Cancer and Oncology (hsv//eng)
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Gastroenterologi (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Gastroenterology and Hepatology (hsv//eng)
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Annan klinisk medicin (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Other Clinical Medicine (hsv//eng)
Keyword
- C282Y
- epidemiology
- H63D
- hemochromatosis
- prognosis
- Gastroenterology & Hepatology
- C282Y
Publication and Content Type
- ref (subject category)
- art (subject category)
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- By the author/editor
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Hagstrom, H.
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Ndegwa, N.
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Jalmeus, M.
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Ekstedt, Mattias
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Posserud, Iris, ...
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Rorsman, Fredrik ...
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Nyhlin, Nils, 19 ...
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Klintman, D.
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Werner, Mårten
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Marschall, Hanns ...
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Askling, J.
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Stal, P.
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- About the subject
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Clinical Medicin ...
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Clinical Medicin ...
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and Cancer and Oncol ...
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Clinical Medicin ...
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and Gastroenterology ...
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Clinical Medicin ...
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and Other Clinical M ...
- Articles in the publication
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Liver Internatio ...
- By the university
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University of Gothenburg
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Örebro University
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Umeå University
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Linköping University
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Uppsala University
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Karolinska Institutet