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Hématologie > Hémochromatose > Flashcards

Hémochromatose Flashcards

1
Q

Type de transmission ?

A

autosomique recessive

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2
Q

Sur quoi est fait le diagnostic ?

A

Hyperferritinémie
+
Coefficient de saturation de la transferrine augmenté (> 45%)

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3
Q

Quelle est la mutation à rechercher ?

A

Mutation C28Y du gène HFE

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4
Q

Signes généraux ?

A

Asthénie

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5
Q

Signes cutanés ?

A

Mélanodermie

Dépilation

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6
Q

Signes ostéo-articualires ?

A

Chondrocalcinose

Ostéoporose

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7
Q

Signes hépatiques ?

A

Cirrhose

Risque de carcinome hépato-cellulaire

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8
Q

Signes endocrinologiques ?

A

Diabète

Hypogonadisme hypogonadotrope

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9
Q

Atteinte cardiaque ?

A

Troubles du rythme

Insuffisance cardiaque

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10
Q

Hémochromatose stade 0 ?

A

Asymptomatique

–> Ø examen complementaire
–> Ø TTT
==> Examen clinique tous les 3 ans

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11
Q

Hémochromatose stade 1 ?

A

Elévation isolée du coefficient de saturation de la transferrine

–> Ø examen complementaire
–> Ø TTT
==> Examen clinique tous les ans

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12
Q

Hémochromatose stade 2 ?

A

Coefficient de saturation de la tranferrine + ferritine augmentée

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13
Q

Hémochromatose stade 3 ?

A

Apparition de signes cliniques

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14
Q

Hémochromatose stade 4 ?

A

Apparition d’atteinte viscérale

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15
Q

Quels sont les objectifs des saingées ?

A

Hb > 11

Ferritine ≤ 50

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16
Q

TTT hémochromatose ?

A

Saignée hebdomadaire au debut puis tous les 3 mois

Hématologie (20 decks)

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