SNFGE SNFGE
 
Thématique :
- Foie
Originalité :
Réexamen
Solidité :
Très solide
Doit faire évoluer notre pratique :
Immédiatement
 
 
Nom du veilleur :
Professeur Dominique VALLA
Coup de coeur :
 
 
The Lancet
  2016/03  
 
  2016 Mar 11. pii: S0140-6736(15)01315-X  
  doi: 10.1016/S0140-6736(15)01315-X  
 
  Haemochromatosis.  
 
  Powell LW, Seckington RC, Deugnier Y.  
  http://www.ncbi.nlm.nih.gov/pubmed/?term=Powell+LW1%2C+Seckington+RC2%2C+Deugnier+Y3.  
 
 

Haemochromatosis is now known to be an iron-storage disease with genetic heterogeneity but with a final common metabolic pathway resulting in inappropriately low production of the hormone hepcidin. This leads to increase in intestinal absorption and deposition of excessive amounts of iron in parenchymal cells which in turn results in eventual tissue damage and organ failure. A clinical enigma has been the variable clinical expression with some patients presenting with hepatic cirrhosis at a young age and others almost asymptomatic for life. Research is unravelling this puzzle by identifying environmental factors-especially alcohol consumption-and associated modifying genes that modulate phenotypic expression. A high index of suspicion is required for early diagnosis but this can lead to presymptomatic therapy and a normal life expectancy. Venesection (phlebotomy) therapy remains the mainstay of therapy, but alternative therapies are the subject of current research.

 
Question posée
 
Mise au point ?
 
Question posée
 
Mise au point.
 
Commentaires

Excellent.

 
www.snfge.org