{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,23]],"date-time":"2026-09-23T06:39:12Z","timestamp":1790145552132,"version":"4.0.1"},"reference-count":37,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2021,1,26]],"date-time":"2021-01-26T00:00:00Z","timestamp":1611619200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Liver International"],"published-print":{"date-parts":[[2021,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background &amp; Aims<\/jats:title><jats:p>Mutations in the <jats:italic>HFE<\/jats:italic> gene can lead to hereditary haemochromatosis (HH) and have been suggested to increase the risk of extra\u2010hepatic diseases, especially breast and colorectal cancer. Here we investigated long\u2010term outcomes of Swedish patients with <jats:italic>HFE<\/jats:italic> mutations.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>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\u2019s disease and mortality. Cox proportional hazards regression was used to estimate hazard ratios for these outcomes.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Median age at diagnosis was 52\u00a0years, 44% were females. During a mean follow\u2010up of 7.9\u00a0years, 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\u2010related outcomes were rare, with a cumulative incidence of &lt;1%.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>Individuals found to be <jats:italic>HFE<\/jats:italic> 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.<\/jats:p><\/jats:sec>","DOI":"10.1111\/liv.14792","type":"journal-article","created":{"date-parts":[[2021,1,16]],"date-time":"2021-01-16T00:36:32Z","timestamp":1610757392000},"page":"545-553","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":23,"title":["Morbidity, risk of cancer and mortality in 3645 <i>HFE<\/i> mutations carriers"],"prefix":"10.1111","volume":"41","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-8474-1759","authenticated-orcid":false,"given":"Hannes","family":"Hagstr\u00f6m","sequence":"first","affiliation":[{"name":"Division of Hepatology Department of Upper GI diseases Karolinska University Hospital Stockholm Sweden"},{"name":"Clinical Epidemiology Division Department of Medicine, Solna Karolinska Institutet Stockholm Sweden"},{"name":"Department of Medicine, Huddinge Karolinska 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