A Late Presentation of a Fatal Disease: Juvenile Hemochromatosis
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...
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| Format: | Article |
| Language: | English |
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Wiley
2013-01-01
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| Series: | Case Reports in Medicine |
| Online Access: | http://dx.doi.org/10.1155/2013/875093 |
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| _version_ | 1832548095627362304 |
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| author | Cynthia Cherfane Pauline Lee Leana Guerin Kyle Brown |
| author_facet | Cynthia Cherfane Pauline Lee Leana Guerin Kyle Brown |
| author_sort | Cynthia Cherfane |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-f723b67bf5694a5d8b3f5f04e1a1b21f |
| institution | Kabale University |
| issn | 1687-9627 1687-9635 |
| language | English |
| publishDate | 2013-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Medicine |
| spelling | doaj-art-f723b67bf5694a5d8b3f5f04e1a1b21f2025-02-03T06:42:20ZengWileyCase Reports in Medicine1687-96271687-96352013-01-01201310.1155/2013/875093875093A Late Presentation of a Fatal Disease: Juvenile HemochromatosisCynthia Cherfane0Pauline Lee1Leana Guerin2Kyle Brown3Department of Internal Medicine, Roy J. and Lucille A. Carver College of Medicine, University of Iowa, Iowa City, IA 52242, USADepartment of Molecular and Experimental Medicine, The Scripps Research Institute, La Jolla, CA 92037, USADepartment of Pathology, Roy J. and Lucille A. Carver College of Medicine, University of Iowa, Iowa City, IA 52242, USADepartment of Internal Medicine, Roy J. and Lucille A. Carver College of Medicine, University of Iowa, Iowa City, IA 52242, USAJuvenile 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.http://dx.doi.org/10.1155/2013/875093 |
| spellingShingle | Cynthia Cherfane Pauline Lee Leana Guerin Kyle Brown A Late Presentation of a Fatal Disease: Juvenile Hemochromatosis Case Reports in Medicine |
| title | A Late Presentation of a Fatal Disease: Juvenile Hemochromatosis |
| title_full | A Late Presentation of a Fatal Disease: Juvenile Hemochromatosis |
| title_fullStr | A Late Presentation of a Fatal Disease: Juvenile Hemochromatosis |
| title_full_unstemmed | A Late Presentation of a Fatal Disease: Juvenile Hemochromatosis |
| title_short | A Late Presentation of a Fatal Disease: Juvenile Hemochromatosis |
| title_sort | late presentation of a fatal disease juvenile hemochromatosis |
| url | http://dx.doi.org/10.1155/2013/875093 |
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