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