Updated: 6/17/2021

Hemochromatosis

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  • summary
    • Hemochromatosis is a common metabolic disorder caused by deposition of excess levels of iron in the blood and tissue. Patients present with arthritis, chondrocalcinosis, diabetes, and skin hyperpigmentation.
    • Diagnosis is made with liver biopsy showing hemosiderin in parenchymal cells.
    • Treatment is identifying and treating the underlying etiology, decreasing iron intake, and a phlebotomy regimen.
  • Epidemiology
    • Prevalence
      • 1 in 200 people of northern European extraction
    • Demographics
      • usually presents in 4th-5th decade of life
      • women usually present later than men due to the protective effect of iron loss during menses and pregnancy
    • Anatomic location
      • multi-system disease
        • hypogonadism
        • diabetes
        • liver cirrhosis
        • cardiomyopathy
        • arthritis
          • may be unilateral or bilateral
          • may affect one or multiple joints
  • Etiology
    • Pathophysiology
      • increased dietary iron absorption and/or increased iron release from cell
      • leading to inappropriate levels of iron into organs and tissues
    • Genetics
      • inheritance
        • autosomal recessive
      • mutations
        • C282Y allele is most common
  • Presentation
    • Symptoms
      • classically presents with non-specific symptoms
        • fatigue
        • lethargy
        • joint or muscle pain
      • may present with systemic symptoms
        • impotence
        • diabetes 
        • skin hyperpigmentation
    • Examination
      • arthropathy
        • most often in PIPJ, MCPJ of index and middle finger
        • larger joints may also be affected
          • highly suspicious with bilateral ankle OA
  • Imaging
    • Radiographs
      • may identify arthritis of the joints
      • chonrocalcinosis presents in >50% of patients
  • Studies
    • Labs
      • serum ferritin levels
      • serum iron levels (>30 µmol/L)
      • total iron-binding capacity
      • TSH
      • lipid profile
    • Liver Biopsy (gold standard)
      • hemosiderin in parenchymal cells
  • Treatment
    • Nonoperative
      • decrease iron intake
        • indications
          • standard of treatment to reduce iron overload
        • methods
          • reduced consumption of red meat
          • avoid raw shellfish
          • limit supplemental vitamin C
          • avoid excessive alcohol (secondary liver damage)
      • phlebotomy regime
        • indications
          • weekly blood letting sessions to reduce serum ferritin levels
        • contraindications
          • severe anemia
          • congestive heart failure
    • Operative
      • total joint arthroplasty
        • indications
          • large joint involvement
  • Orthopaedic Manifestations
    • Bilateral ankle arthritis
      • hemochromatosis should be suspected when symmetrical ankle arthropathy occurs in young men
  • Prognosis
    • Produces arthritis and chondrocalcinosis in > 50% of patients
    • Treatment returns life expectancy to normal if patient non cirrhotic and no diabetic
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