Journal article
A Late Presentation of a Fatal Disease: Juvenile Hemochromatosis
Case reports in medicine, Vol.2013, pp.1-5
2013
DOI: 10.1155/2013/875093
PMCID: PMC3784272
PMID: 24106505
Abstract
Juvenile hemochromatosis is a rare and severe form of hereditary hemochromatosis. We report the case of a 39-year-old female who presented with heart failure and cirrhosis from previously unrecognized juvenile hemochromatosis. This is the latest presentation described in the literature. An important clue to the diagnosis was a history of amenorrhea since the age of 20 that had never been investigated. The patient died of intractable heart failure two months after the initial presentation. Juvenile hemochromatosis should be suspected in a young patient with endocrine or cardiac manifestations. Early diagnosis is crucial since phlebotomy can improve the prognosis and delay or prevent progression to heart failure and cirrhosis.
Details
- Title: Subtitle
- A Late Presentation of a Fatal Disease: Juvenile Hemochromatosis
- Creators
- Cynthia Cherfane - Department of Internal Medicine, Roy J. and Lucille A. Carver College of Medicine, University of Iowa, Iowa City, IA 52242, USAPauline Lee - Department of Molecular and Experimental Medicine, The Scripps Research Institute, La Jolla, CA 92037, USALeana Guerin - Department of Pathology, Roy J. and Lucille A. Carver College of Medicine, University of Iowa, Iowa City, IA 52242, USAKyle Brown - Department of Internal Medicine, Roy J. and Lucille A. Carver College of Medicine, University of Iowa, Iowa City, IA 52242, USA, Iowa City Veterans Administration Medical Center, Iowa City, IA 52246, USA, Free Radical and Radiation Biology Program, Roy J. and Lucille A. Carver College of Medicine, University of Iowa, Iowa city, IA 52242, USA, Division of Gastroenterology and Hepatology, University of Iowa, 200 Hawkins Drive, 4553 JCP, Iowa City, IA 52242, USA
- Resource Type
- Journal article
- Publication Details
- Case reports in medicine, Vol.2013, pp.1-5
- DOI
- 10.1155/2013/875093
- PMID
- 24106505
- PMCID
- PMC3784272
- NLM abbreviation
- Case Rep Med
- ISSN
- 1687-9627
- eISSN
- 1687-9635
- Grant note
- DOI: 10.13039/100000002, name: National Institutes of Health, award: DK53505-12
- Language
- English
- Date published
- 2013
- Academic Unit
- Gastroenterology and Hepatology; Radiation Oncology; Internal Medicine
- Record Identifier
- 9984046901002771
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