Haemochromatosis

Definition

  • Chronic disorder characterised by deposition of iron in the parenchymal tissues

Epidemiology

  • Men > Women
  • Rarely recognised before age 40
  • May be inherited
  • Most often as AR trait
  • May be secondary
  • Multiple transfusions
  • Increased Fe absorption
  • Increased Fe intake

Clinical Features

  • “Bronze Diabetes”
  • Combination of
    • Cirrhosis
    • Arthritis
    • Pancreatic dysfunction
    • May see myocardial involvement with cardiomyopathy
    • Pigmentation of skin mainly in axilla related to ↑ in melanin rather than iron
  • Arthropathy
    • Significant arthropathy of hands
      • Seen in 40% of patients
      • Most often in PIPJ & MCPJ of IF & MF
      • This characteristically can occur in younger patients prior to onset of significant systemic disease
      • Stiff / tender without morning exacerbations
    • Larger joints including the wrists, knee, & hips may be affected
      • Acute joint inflammation with crystal synovitis
  • Chondrocalcinosis present in 50% of patients
    • note that this is CPPD not Fe deposition

Investigations

  • Laboratory
    • > Plasma iron concentration elevated
    • Iron binding protein – Transferrin saturated
  • Liver biopsy
    • Haemosiderin in parenchymal cells
  • Haemosiderin
    • synovial cells
    • articular cartilage

Radiographically

  • Frequently see degenerative changes in the MCPJ & PIPJ of IF & MF
  • Chondrocalcinosis in 50%
  • Spine osteoporosis common

Histology

  • Iron deposits seen in the synovial lining cells & on EM mainly the Type B cells
  • Synovial inflammation or proliferation slight
  • Synovial fluid has leucocytes less than 1000/ mm3
  • Synovial fluid iron levels mimic blood levels
  • RF absent/ ESR normal

Treatment

  • Nonoperative
    • NSAIDS, analgesia
    • Phlebotomy
      • in systemic disease but doesn’t help the joint disease
  • Operative
    • Arthroplasty
      • for joints