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Updated: Dec 17 2021

Hemochromatosis

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  • Snapshot
    • A 50-year-old woman with a medical history of diabetes and alcoholism reports having increased shortness of breath with exertion. She has never had these symptoms before. On physical exam, she has hepatomegaly. Laboratory evaluation shows elevated liver enzymes and iron studies reveal increased ferritin and transferrin saturation level of 50%. An echocardiogram shows a mild dilated cardiomyopathy. She is scheduled for regular phlebotomy sessions.
  • Introduction
    • Clinical definition
      • hemochromatosis is a disease of iron accumulation, characterized by the classic triad
        • cirrhosis
        • diabetes mellitus
        • skin pigmentation
    • Genetics
      • autosomal recessive
      • HFE gene mutation on chromosome 6
        • C282Y mutation
        • H63D mutation
      • associated with HLA-A3
  • Epidemiology
    • Demographics
      • age > 40
      • detected in men earlier than women
        • women lose iron through menstruation
    • Etiology
      • hereditary hemochromatosis
      • secondary causes
        • repeated blood transfusions
  • ETIOLOGY
    • Pathogenesis
      • ↑ intestinal absorption of iron, leading to iron overload
      • iron accumulation in organs cause end-organ damage
    • Hereditary hemochromatosis
    • Secondary causes
      • repeated blood transfusions
  • Presentation
    • Symptoms
      • cirrhosis
        • abdominal pain
        • hepatomegaly
        • jaundice
        • spider angioma
        • palmar erythema
      • diabetes mellitus
      • hyperpigmentation of skin
        • found in late-stage disease
        • "bronze diabetes"
      • arthropathy
        • calcium pyrophosphate deposition in metacarpophalangeal joints
      • hypogonadism
        • gynecomastia
        • lack of body hair
      • systemic symptoms
        • weakness
        • fatigue
      • heart failure
  • Studies
    • Diagnostic testing
      • imaging
        • magnetic resonance imaging (MRI) of the liver
          • to evaluate iron load
      • studies
        • liver biopsy
          • Prussian blue stain detects iron deposition in hepatocytes
        • ↑ liver enzymes
        • iron studies
          • ↑ transferrin saturation > 45%
          • ↑ ferritin
          • ↑ iron
          • ↓ TIBC
        • genetic testing for HFE mutation
          • confirms the diagnosis
    • Diagnostic criteria
      • based on clinical history and exam with ↑ transferrin saturation or ferritin
    • Nonalcoholic fatty liver disease (NAFLD)
      • distinguishing factor
        • increased ferritin levels are also found in NAFLD, but transferrin saturation levels are normal and imaging will not show increased iron deposition in the liver
    • Vibrio vulnificus infection
      • distinguishing factors
        • associated with hemochromatosis and bullous skin lesions
        • associated with exposure to seafood
  • Treatment
    • First-line
      • regular phlebotomy
        • indication
          • to maintain ferritin levels 50-100 mcg/L
      • iron chelation therapy
        • deferasirox
        • deferoxamine
        • deferiprone
    • Second-line
      • liver transplant
        • indication
          • decompensated cirrhosis
  • Complications
    • Hepatocellular carcinoma
      • patients should undergo regular screening
    • Cardiomyopathy
      • dilated > restrictive
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