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Genetic hemochromatosis: Pathophysiology, diagnostic and therapeutic management

Pierre Brissot1, Thibault Cavey2, Martine Ropert2

  • 1University of Rennes 1, Hepatology, Faculty of Medicine, 2, avenue du Pr. Léon-Bernard, 35000 Rennes, France; Inserm-UMR 991, 2, rue Henri-Le-Guilloux, 35033 Rennes, France.

Presse Medicale (Paris, France : 1983)
|November 22, 2017
PubMed

Insights

Hemochromatosis (HC) involves genetic iron overload. Diagnosis uses clinical, biological, and imaging data, with venesection therapy as the primary treatment.

Area of Science:

  • Genetics
  • Metabolic disorders
  • Hematology

Background:

  • Hemochromatosis (HC) encompasses genetic disorders causing systemic iron overload.
  • These conditions significantly impact quality of life and life expectancy.
  • Advances in iron metabolism knowledge allow classification into distinct pathophysiological categories.

Purpose of the Study:

  • To categorize hemochromatosis types based on iron metabolism.
  • To outline diagnostic strategies for hemochromatosis.
  • To discuss current and future treatment approaches for hemochromatosis.

Main Methods:

  • Classification of HC into two main pathophysiological categories based on iron metabolism.
  • Non-invasive diagnostic strategy integrating clinical, biological, and imaging data.
  • Review of current treatment modalities, including venesection therapy and potential hepcidin supplementation.

Main Results:

  • Most HC forms (1, 2, 3, 4B) result from cellular hepcidin deprivation, leading to increased plasma iron and non-transferrin-bound iron.
  • Type 4A ferroportin disease involves iron overload due to reduced cellular iron export.
  • Diagnosis relies on a comprehensive non-invasive approach.

Conclusions:

  • Hemochromatosis management requires understanding its diverse pathophysiological mechanisms.
  • Venesection therapy is the primary treatment, with hepcidin supplementation as a future prospect for specific HC types.
  • Prevention strategies are crucial, particularly at the family level and potentially at the population level for type 1 HC.

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