Genetic hemochromatosis: Pathophysiology, diagnostic and therapeutic management

Abstract : The term hemochromatosis (HC) corresponds to several diseases characterized by systemic iron overload of genetic origin and affecting both the quality of life and life expectancy. Major improvement in the knowledge of iron metabolism permits to divide these diseases into two main pathophysiological categories. For most HC forms (types 1, 2, 3 and 4B HC) iron overload is related to cellular hepcidin deprivation which causes an increase of plasma iron concentration and the appearance of plasma non-transferrin bound iron. In contrast, iron excess in type 4A ferroportin disease is related to decreased cellular iron export. Whatever the HC type, the diagnosis rests on a non-invasive strategy, combining clinical, biological and imaging data. The mainstay of the treatment remains venesection therapy with the perspective of hepcidin supplementation for hepcidin deprivation-related HC. Prevention of HC is critical at the family level and, for type 1 HC, remains a major goal, although still debated, at the population level.
Document type :
Journal articles
Complete list of metadatas

Cited literature [45 references]  Display  Hide  Download

https://hal-univ-rennes1.archives-ouvertes.fr/hal-01671715
Contributor : Laurent Jonchère <>
Submitted on : Tuesday, June 19, 2018 - 10:01:12 AM
Last modification on : Wednesday, June 20, 2018 - 1:07:02 AM
Long-term archiving on : Tuesday, September 25, 2018 - 5:48:19 PM

File

Brissot - Genetic hemochromato...
Files produced by the author(s)

Identifiers

Citation

P. Brissot, T. Cavey, M. Ropert, P. Guggenbuhl, O. Loréal. Genetic hemochromatosis: Pathophysiology, diagnostic and therapeutic management. La Presse Médicale, Elsevier Masson, 2017, 46 (12), pp.e288-e295. ⟨10.1016/j.lpm.2017.05.037⟩. ⟨hal-01671715⟩

Share

Metrics

Record views

130

Files downloads

187