Hemocromatosis Hereditaria Flashcards

1
Q

Define hemocromatosis hereditaria

A
  • Trastorno del metabolismo del hierro por disminución de hepcidina en hígado
  • Aumento en la absorcion y acumulacion en tejidos
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2
Q

Etiología de la hemocromatosis

A

Mutación en el gen HFE (c282y)

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3
Q

Hierro sérico normal

A

2.5-3.5 g

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4
Q

Clínica de hemocromatosis

A
75% Asintomáticos
Síntomas inespecíficos: 
-Fatiga
-Hepatoesplenomegalia
-Pigmentación bronceada de piel
-Artritis
-DM
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5
Q

La hemocromatosis aumenta el riesgo de contraer infecciones, ¿cuáles son?

A
  • Yersinia enterocolitica
  • Tuberculosis
  • Listeria monocytogenes
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6
Q

Tratamiento invasivo para hemocromatosis cuando el hierro >50 o síntomas graves

A

Flebotomia

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7
Q

Tratamiento medico para hemocromatosis

A

Quelantes de hierro

  • Deferoxamina
  • Deferiprona
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8
Q

Tratamiento de oro para hemocromatosis

A

Trasplante hepático

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