Hyperferritinemia and non-HFE hemochromatosis: differential diagnosis and workup.

IF 1.3 4区 医学 Q4 GASTROENTEROLOGY & HEPATOLOGY
E Lommaert, W Verlinden, I Duysburgh, T Holvoet, J Schouten
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引用次数: 0

Abstract

Hyperferritinemia is a common reason for referral to a hepatogastroenterologist. The most frequent causes are not associated with iron overload (e.g. inflammatory diseases, alcohol abuse, metabolic syndrome, etc.). However, hyperferritinemia can also be caused by a genetic variant in one of the iron regulatory genes, called hereditary hemochromatosis, often but not always associated with iron overload. A variation in the human Hemostatic Iron Regulator protein (HFE) gene is the most common genotype, but many other variants have been described. In this paper we discuss two cases of rare hyperferritinemia associated disorders, ferroportin disease and hyperferritinemia-cataract syndrome. We also propose an algorithm for evaluating hyperferritinemia, facilitating a correct diagnosis and preventing potentially unnecessary examinations and therapeutic actions.

高铁素血症和非hfe血色素沉着症:鉴别诊断和检查。
高铁素血症是一个常见的原因转介到肝胃肠病学家。最常见的原因与铁超载无关(如炎症性疾病、酗酒、代谢综合征等)。然而,高铁素血症也可能是由一种铁调节基因的遗传变异引起的,称为遗传性血色素沉着症,通常但并不总是与铁超载有关。人类止血铁调节蛋白(HFE)基因的变异是最常见的基因型,但已经描述了许多其他变异。本文讨论了两例罕见的高铁蛋白血症相关疾病,铁转运蛋白病和高铁蛋白血症-白内障综合征。我们还提出了一种评估高铁蛋白血症的算法,促进正确诊断,防止可能不必要的检查和治疗行动。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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来源期刊
Acta gastro-enterologica Belgica
Acta gastro-enterologica Belgica Medicine-Gastroenterology
CiteScore
2.30
自引率
20.00%
发文量
78
期刊介绍: The Journal Acta Gastro-Enterologica Belgica principally publishes peer-reviewed original manuscripts, reviews, letters to editors, book reviews and guidelines in the field of clinical Gastroenterology and Hepatology, including digestive oncology, digestive pathology, as well as nutrition. Pure animal or in vitro work will not be considered for publication in the Journal. Translational research papers (including sections of animal or in vitro work) are considered by the Journal if they have a clear relationship to or relevance for clinical hepato-gastroenterology (screening, disease mechanisms and/or new therapies). Case reports and clinical images will be accepted if they represent an important contribution to the description, the pathogenesis or the treatment of a specific gastroenterology or liver problem. The language of the Journal is English. Papers from any country will be considered for publication. Manuscripts submitted to the Journal should not have been published previously (in English or any other language), nor should they be under consideration for publication elsewhere. Unsolicited papers are peer-reviewed before it is decided whether they should be accepted, rejected, or returned for revision. Manuscripts that do not meet the presentation criteria (as indicated below) will be returned to the authors. Papers that go too far beyond the scope of the journal will be also returned to the authors by the editorial board generally within 2 weeks. The Journal reserves the right to edit the language of papers accepted for publication for clarity and correctness, and to make formal changes to ensure compliance with AGEB’s style. Authors have the opportunity to review such changes in the proofs.
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