{"title":"Hereditary haemochromatosis: A review.","authors":"Prabhsimran Singh, Charles Millson, Robert Driver","doi":"10.1177/14782715241298724","DOIUrl":null,"url":null,"abstract":"<p><p>Hereditary haemochromatosis (HH) is the commonest genetic condition among populations of Northern European ancestry. Mutations to the <i>HFE</i> gene leads to uninhibited intestinal iron absorption followed by excess iron deposition in various organs such as the liver, pituitary gland, pancreas and heart. Due to variable biochemical and clinical penetrance, not all individuals with C282Y homozygosity will develop HH. Early diagnosis is crucial to prevent morbidity and mortality but is challenging with most patients not exhibiting any symptoms. Patients with HH should undergo clinical assessment to evaluate their symptoms, presence of organ damage and hepatic fibrosis using transient elastography. Patients who are negative for the <i>HFE</i> mutations but have significant liver iron loading seen on magnetic resonance imaging should be reviewed by a specialist and considered for genetic tests looking for the rarer non-<i>HFE</i> mutations. HH patients are predominantly treated with venesection which can improve symptoms, hepatic fibrosis and mortality.</p>","PeriodicalId":46606,"journal":{"name":"Journal of the Royal College of Physicians of Edinburgh","volume":" ","pages":"340-347"},"PeriodicalIF":1.1000,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Journal of the Royal College of Physicians of Edinburgh","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1177/14782715241298724","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2024/11/10 0:00:00","PubModel":"Epub","JCR":"Q2","JCRName":"MEDICINE, GENERAL & INTERNAL","Score":null,"Total":0}
引用次数: 0
Abstract
Hereditary haemochromatosis (HH) is the commonest genetic condition among populations of Northern European ancestry. Mutations to the HFE gene leads to uninhibited intestinal iron absorption followed by excess iron deposition in various organs such as the liver, pituitary gland, pancreas and heart. Due to variable biochemical and clinical penetrance, not all individuals with C282Y homozygosity will develop HH. Early diagnosis is crucial to prevent morbidity and mortality but is challenging with most patients not exhibiting any symptoms. Patients with HH should undergo clinical assessment to evaluate their symptoms, presence of organ damage and hepatic fibrosis using transient elastography. Patients who are negative for the HFE mutations but have significant liver iron loading seen on magnetic resonance imaging should be reviewed by a specialist and considered for genetic tests looking for the rarer non-HFE mutations. HH patients are predominantly treated with venesection which can improve symptoms, hepatic fibrosis and mortality.
期刊介绍:
The Journal of the Royal College of Physicians of Edinburgh (JRCPE) is the College’s quarterly, peer-reviewed journal, with an international circulation of 8,000. It has three main emphases – clinical medicine, education and medical history. The online JRCPE provides full access to the contents of the print journal and has a number of additional features including advance online publication of recently accepted papers, an online archive, online-only papers, online symposia abstracts, and a series of topic-specific supplements, primarily based on the College’s consensus conferences.