questions 2

Hemochromatosis

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Topic updated on 06/08/17 11:00am

Introduction
  • Disease caused by excess iron deposition in nearly all tissues
    • slow disease course with disease presenting in fifth decade (men)
      • appears 10-20 years post-menopause in women
        • see Treatment section
  • May be primary or secondary
    • primary
      • mutation in HFE gene
    • secondary (hemosiderosis)
      • accumulation of iron secondary to
        • frequent blood transfusions
          • seen in RBC disorders (e.g. sickle cell)
        • alcoholism
          • high iron content in alcohol
        • drinking water sourced from iron pipes
  • Iron is not directly toxic to tissues
    • iron generates free radicals that causes damage
  • AR inheritance
    • men > women
    • Northern Europeans
Presentation
  • Symptoms
    • cirrhosis
    • malabsorption
      • secondary to destruction of exocrine pancrease
    • amenorrhea/↓ libido
      • secondary to hypogonadism
    • impotence
    • fatigue
    • arthritis/arthralgias (from iron/hemosiderin deposition)
      • chondrocalcinosis
  • Physical exam
    • restrictive cardiomyopathy
    • diabetes mellitus
      • secondary to destruction of endocrine pancrease
    • skin hyperpigmentation
      • "bronze diabetes"
Evaluation
  • Labs
    • ↑ ferritin (> 1000 ug/L)
    • ↑ iron
    • ↑ transferrin saturation (> 45%)
    • ↓ TIBC
      • secondary to ↓ transferrin synthesis
    • ↓ LH/FSH
  • Biopsy
    • micronodular cirrhosis
Treatment
  • Medical
    • repeated phlebotomy
      • ↓ total iron stores
      • menses serves this function in women with HFE mutation
        • reason why disease appears post-menopause
    • deferoxamine
      • iron chelating agent
Prognosis, Prevention, and Complications
  • Untreated results in
    • CHF
    • ↑ risk of hepatocellular carcinoma  


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