L'hémochromatose: une maladie méconnue mais très prévalente au Saguenay-Lac-St-Jean

L'hémochromatose génétique est un désordre génétique dans laquelle le gène (il y en aurait plusieurs, mais le plus connu est le HFE) impliqué dans le métabolisme du fer a muté et peut causer une augmentation de l'absorption intestinale du fer. Les manifestations cliniques de la maladie sont dues à des dépôts de fer dans les tissus tels que le foie, le pancréas, le cœur et la glande pituitaire.Cette maladie était peu considérée à l'époque et n'était traitée qu'en l'apparition d'un "diabète doré" dont je discuterai plus tard. Voici la prévalence en fonction de l'origine ethnique de la mutation homozygote du HFE:

• Caucasiens — 0.44%
• Amérindiens — 0.11%
• Hispaniques — 0.027%
• Noirs — 0.014%
• Asiatiques — 0.00004% 

Voici le rapport sur l'épidémiologie génétique de l'hémochromatose au Saguenay par Anne Vigneault:


http://bibvir.uqac.ca/theses/1466950/1466950.pdf

Et sans oublier le site du CORAMH:


http://www.coramh.org/

PHYSIOPATHOLOGIE:


Normalement, le fer est perdu par la transpiration, les cellules mortes de la peau et l'intestin à raison d' 1mg par jour. Les femmes en âge de concevoir perdent un 0.5 à 1mg par jour additionnel à cause des menstruations. Ces pertes sont généralement balancées par l'absorption de 10 à 20mg de fer dans la diète occidentale quotidienne (Ce type de fer est absorbé à environ 10%, ce qui redonne 1 à 2mg de fer élémentaire. Les formulations pharmaceutiques permettent une absorption beaucoup plus élevée). Chez les gens atteints d'hémochromatose, l'absorption du fer n'est pas régulée en fonction des stocks. Cela amène progressivement une accumulation du fer parce que le mécanisme normal d'excrétion des surplus ne fonctionne plus dès que le fer est absorbé dans le sang.

POURQUOI LES SYMPTÔMES DÉBUTENT DANS LA QUARANTAINE:

Simple calcul mathématique, mon cher Watson! Un homme malade va absorber 2 à 4 mg de fer élémentaire par jour, le laissant avec un surplus de 1 à 3 mg par jour. La rétention de 3mg par jour équivaut à 1g par année. Puisque les surplus sont utilisés durant l'adolescence pour la croissance, ce ne sera pas avant l'âge de 40 à 50 ans que l'accumulation aura atteint plus de 20g de fer! Les femmes développent souvent les symptômes plus tard que les hommes, en raison des pertes de sang causées par les menstruations, les grossesses et la lactation.

LES SYMPTÔMES:

L'accumulation de fer cause divers dysfonctionnements tels que des maladies du foie, une pigmentation de la peau, du diabète sucré, de l'arthropathie, l'impuissance chez les hommes et une hypertrophie du muscle cardiaque (qui peut ou pas causer de problèmes).Voici les pourcentage des patients atteints par différents symptômes:

• Anomalies de la fonction hépatique — 75%
• Faiblesse et léthargie — 74%
• Hyperpigmentation de la peau (causée par un mélange de fer et de mélanine) — 70%
• Diabète sucré — 48%
• Arthralgies (Douleurs articulaires) — 44%
• Impuissance — 45%
• Anomalies à l'échographie cardiaque — 31%
• Perte de libido  — 26%

L'état de "diabète doré" est atteint lorsque le patient souffre de la triade cirrhose du foie, diabète sucré et hyperpigmentation de la peau. Cela se produit lorsque 20g et plus sont présents (soit 5 fois les réserves normales). Plus le patient est pris tôt, plus le risque de conséquences fâcheuses est atténué.

D'autres symptômes relativement graves peuvent apparaître:

-Maladies du foie

-Carcinome hépatocellulaire

-Arthropathies (problèmes aux articulations)

-Maladies cardiaques

-Hypogonadisme (diminution de la production des hormones sexuelles) = Aménorrhée (absence de menstruations) et Impuissance

-Hypothyroïdisme (la glande thyroïde régule la température, l'énergie, etc) 

TRAITEMENT:

Aussi bizarre que cela semble possible, la bonne vieille saignée, qui occasionne une perte de fer et rétablie l'équilibre en contrebalançant l’hyperabsorption du malade.

P.S. Je sais que cela ne contient pas beaucoup d'information poussée, mais je ne peux pas écrire un "textbook". Toutefois, le lien PDF en début de page me semble assez complet et pour de plus amples renseignements, consultez les études ci-bas.

  

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