Updated: 10/10/2016


Review Topic
  • A chronic and often silent disorder that results from inappropriate levels of iron in the blood and tissue
  • 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
    • location
      • multi-system disease
        • hypogonadism
        • diabetes
        • liver cirrhosis
        • cardiomyopathy
        • arthritis
          • may be unilateral or bilateral
          • may affect one or multiple joints
  • 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 
  • Prognosis
    • produces arthritis and chondrocalcinosis in > 50% of patients
    • treatment returns life expectancy to normal if patient non cirrhotic and no diabetic
  • 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
  • Radiographs
    • may identify arthritis of the joints
    • chonrocalcinosis presents in >50% of patients
  • 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
  • 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

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