{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,13]],"date-time":"2026-02-13T11:24:13Z","timestamp":1770981853528,"version":"3.50.1"},"reference-count":11,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2021,2,17]],"date-time":"2021-02-17T00:00:00Z","timestamp":1613520000000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2021,2,17]],"date-time":"2021-02-17T00:00:00Z","timestamp":1613520000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["J Med Case Reports"],"published-print":{"date-parts":[[2021,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec>\n                <jats:title>Background<\/jats:title>\n                <jats:p>Hereditary hemochromatosis is an autosomal recessive disorder where the clinical phenotype of skin pigmentation and organ damage occurs only in homozygotes. Simple heterozygotes, that is, just C282Y, typically do not develop iron overload. Here we present a case where a simple heterozygote in combination with alcoholism developed high ferritin and high transferrin saturation levels indicative of iron overload. Though alcoholism alone could explain her presentation, we hypothesize that an inflammatory cocktail of iron and alcohol probably caused our patient to succumb to acute liver failure at a very young age.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Case presentation<\/jats:title>\n                <jats:p>A 29-year-old Caucasian woman presented to the hospital with progressively worsening yellowish discoloration of her eyes and skin associated with anorexia, nausea, vomiting, diffuse abdominal discomfort, increasing abdominal girth, dark urine and pale stools for about 2 weeks. Family history was significant for hereditary hemochromatosis. Her father was a simple heterozygote and her grandmother was homozygous for C282Y. Physical examination showed scleral icterus, distended abdomen with hepatomegaly and mild generalized tenderness. Lab test results showed an elevated white blood cell count, ferritin 539 ng\/dL, transferrin saturation 58.23%, elevated liver enzymes, elevated international normalized ratio (INR), low albumin, Alcoholic Liver Disease\/Nonalcoholic Fatty Liver Disease (ALD\/NAFLD) Index (ANI) of 2.6, suggesting a 93.2% probability of alcoholic liver disease, and phosphatidyl ethanol level of 537ng\/ml. Genetic testing showed that the patient was heterozygous for human homeostatic iron regulator protein (HFE) C282Y mutation and the normal allele. Computed tomography (CT) of the abdomen revealed hepatomegaly, portal hypertension and generalized anasarca. Magnetic resonance cholangiopancreatography (MRCP) showed negative results for bile duct pathology. Workup for other causes of liver disease was negative. A diagnosis of acute alcoholic hepatitis was made, with Maddrey\u2019s discriminant function of &gt;\u200932, so prednisolone was started. Her bilirubin and INR continued to increase despite steroids, and the patient unfortunately died.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Conclusion<\/jats:title>\n                <jats:p>Our case highlights the importance of considering hemochromatosis in the differential diagnosis of young patients presenting with liver failure, including cases suggestive of alcoholism as the likely etiology. Larger studies are needed to investigate the role of non-iron factors like alcohol and viral hepatitis in the progression of liver disease in simple heterozygotes with hereditary hemochromatosis, given the high prevalence of this mutation in persons of Northern European descent.<\/jats:p>\n              <\/jats:sec>","DOI":"10.1186\/s13256-020-02610-7","type":"journal-article","created":{"date-parts":[[2021,2,20]],"date-time":"2021-02-20T08:35:47Z","timestamp":1613810147000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Hemochromatosis, alcoholism and unhealthy dietary fat: a case report"],"prefix":"10.1186","volume":"15","author":[{"given":"Venkatachalam","family":"Shobi","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Awe","family":"Adeseye","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ballard","family":"Billy","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kalliny","family":"Medhat","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2021,2,17]]},"reference":[{"issue":"3","key":"2610_CR1","doi-asserted-by":"publisher","first-page":"221","DOI":"10.1056\/NEJMoa073286","volume":"358","author":"KJ Allen","year":"2008","unstructured":"Allen KJ, et al. Iron-overload-related disease in HFE hereditary hemochromatosis. N Engl J Med. 2008;358(3):221\u201330.","journal-title":"N Engl J Med"},{"issue":"2","key":"2610_CR2","doi-asserted-by":"publisher","first-page":"424","DOI":"10.1158\/1055-9965.EPI-08-0725","volume":"18","author":"N Fujita","year":"2009","unstructured":"Fujita N, et al. Iron overload is associated with hepatic oxidative damage to DNA in nonalcoholic steatohepatitis. Cancer Epidemiol Biomark Prev. 2009;18(2):424\u201332.","journal-title":"Cancer Epidemiol Biomark Prev"},{"issue":"24","key":"2610_CR3","doi-asserted-by":"publisher","first-page":"1799","DOI":"10.1056\/NEJM199612123352403","volume":"335","author":"ZJ Bulaj","year":"1996","unstructured":"Bulaj ZJ, et al. Clinical and biochemical abnormalities in people heterozygous for hemochromatosis. N Engl J Med. 1996;335(24):1799\u2013805.","journal-title":"N Engl J Med"},{"issue":"1","key":"2610_CR4","doi-asserted-by":"publisher","first-page":"94","DOI":"10.1002\/hep.22972","volume":"50","author":"LC Gurrin","year":"2009","unstructured":"Gurrin LC, et al. HFE C282Y\/H63D compound heterozygotes are at low risk of hemochromatosis-related morbidity. Hepatology. 2009;50(1):94\u2013101.","journal-title":"Hepatology"},{"issue":"4","key":"2610_CR5","doi-asserted-by":"publisher","first-page":"719","DOI":"10.1111\/jgh.12804","volume":"30","author":"SG Zaloumis","year":"2015","unstructured":"Zaloumis SG, et al. Natural history of HFE simple heterozygosity for C282Y and H63D: a prospective 12-year study. J Gastroenterol Hepatol. 2015;30(4):719\u201325.","journal-title":"J Gastroenterol Hepatol"},{"issue":"3","key":"2610_CR6","doi-asserted-by":"publisher","first-page":"322","DOI":"10.1093\/ajcn\/74.3.322","volume":"74","author":"E Kesse","year":"2001","unstructured":"Kesse E, et al. Do eating habits differ according to alcohol consumption? Results of a study of the French cohort of the European Prospective Investigation into Cancer and Nutrition (E3N-EPIC). Am J Clin Nutr. 2001;74(3):322\u20137.","journal-title":"Am J Clin Nutr"},{"issue":"5","key":"2610_CR7","doi-asserted-by":"publisher","first-page":"521","DOI":"10.3748\/wjg.v25.i5.521","volume":"25","author":"KJ Mehta","year":"2019","unstructured":"Mehta KJ, Farnaud SJ, Sharp PA. Iron and liver fibrosis: mechanistic and clinical aspects. World J Gastroenterol. 2019;25(5):521\u201338.","journal-title":"World J Gastroenterol"},{"issue":"3","key":"2610_CR8","doi-asserted-by":"publisher","first-page":"445","DOI":"10.1016\/j.cld.2016.02.004","volume":"20","author":"W Dunn","year":"2016","unstructured":"Dunn W, Shah VH. Pathogenesis of alcoholic liver disease. Clin Liver Dis. 2016;20(3):445\u201356.","journal-title":"Clin Liver Dis"},{"issue":"7","key":"2610_CR9","doi-asserted-by":"publisher","first-page":"908","DOI":"10.1038\/s41591-018-0104-9","volume":"24","author":"SL Friedman","year":"2018","unstructured":"Friedman SL, et al. Mechanisms of NAFLD development and therapeutic strategies. Nat Med. 2018;24(7):908\u201322.","journal-title":"Nat Med"},{"issue":"Suppl 1","key":"2610_CR10","doi-asserted-by":"publisher","first-page":"25","DOI":"10.1111\/ijlh.12347","volume":"37","author":"PC Adams","year":"2015","unstructured":"Adams PC. Epidemiology and diagnostic testing for hemochromatosis and iron overload. Int J Lab Hematol. 2015;37(Suppl 1):25\u201330.","journal-title":"Int J Lab Hematol"},{"key":"2610_CR11","doi-asserted-by":"publisher","first-page":"k2817","DOI":"10.1136\/bmj.k2817","volume":"362","author":"EB Tapper","year":"2018","unstructured":"Tapper EB, Parikh ND. Mortality due to cirrhosis and liver cancer in the United States, 1999\u20132016: observational study. BMJ. 2018;362:k2817.","journal-title":"BMJ"}],"container-title":["Journal of Medical Case Reports"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1186\/s13256-020-02610-7.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1186\/s13256-020-02610-7\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1186\/s13256-020-02610-7.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,4,1]],"date-time":"2021-04-01T09:22:23Z","timestamp":1617268943000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmedicalcasereports.biomedcentral.com\/articles\/10.1186\/s13256-020-02610-7"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,2,17]]},"references-count":11,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2021,12]]}},"alternative-id":["2610"],"URL":"https:\/\/doi.org\/10.1186\/s13256-020-02610-7","relation":{},"ISSN":["1752-1947"],"issn-type":[{"value":"1752-1947","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,2,17]]},"assertion":[{"value":"9 August 2020","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"30 November 2020","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"17 February 2021","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"Nashville General Hospital Research Oversight Committee (ROC) has determined that a case report does not produce generalizable knowledge, nor is it an investigation of an FDA regulated production.","order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}},{"value":"Written informed consent was obtained from the patient for publication of this case report and any accompanying images. A copy of the written consent form is available for review by the Editor-in-Chief of this journal.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"Our patient\u2019s health record is available in our electronic medical record system, and information can be verified if required by the reviewer.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Availability of data and material"}},{"value":"The authors declare that they have no competing interests.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"84"}}