ArticleCase reports in medicine2013
A late presentation of a fatal disease: juvenile hemochromatosis.
Article in Case reports in medicine, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers, 1 of them a synthesis that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
5 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Genotypic and phenotypic spectra of hemojuvelin mutations in primary hemochromatosis patients: a systematic review.Orphanet journal of rare diseases · 2019Pooled it
- Appropriate Clinical Genetic Testing of Hemochromatosis Type 2-4, Including Ferroportin Disease.The application of clinical genetics · 2021Review
- Juvenile Hemochromatosis: A Case Report and Review of the Literature.Pharmaceuticals (Basel, Switzerland) · 2020Article
- Clinicopathological diagnosis and treatment of juvenile hemochromatosis.Chinese medical journal · 2019Article
- Hemochromatosis in India: First Report of Whole Exome Sequencing With Review of the Literature.Journal of clinical and experimental hepatologyArticle
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
4 authors.
Funding
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.
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.