FRUSH

Question 1

Hemochromatosis general

Answer 1

• Inherited metabolic disorder
  
  • usually homozygous C282Y mutation in the HFE gene on chromosome 6
• causes SYSTEMIC IRON OVERLOAD due to decrease in hepcidin production

Question 2

Hemochromatosis results

Answer 2

• results in damage to
  
  • pancrease
  • endocrine glands
  • liver
  • heart
  • skin
  • joints

Question 3

Arthropathy

Answer 3

• 2/3 of patients will be affected by arthropathy
• arthropathy will be presenting symptom for 1/3 patients
• PRESENTS SIMILARLY TO:
  
  • osteoarthritis
  • rheumatoid arthritis
  • calcium pyrophosphate deposition disease

Question 4

Hemochromatosis characteristics

Answer 4

• Patients younger
  
  • average age around 45
  • men younger than 30
  • before menopause in women
• pain linked to MOTION and LIMITATION of range of motion
• arthritis characteristically at 2nd and 3rd metacarpophalangeal joint
• other common joints
  
  • wrists, proximal interphalangeal joints, hips, knees and ankles

Question 5

describe pathologic findings

Answer 5

• thining or erosion of articular cartilage
  
  • will look similar to osteoarthritis and rheumatoid arthiritis
• iron depsotiions often found in cartilae, synovia and synovial lining cells
• macrophage and neutrophil infiltration (presence correlated with hemosiderin deposits in tissue

Question 6

Tx

Answer 6

• phlebotomy helps with organ damage but does NOT HELP WITH ARTHROPATHY (ferratin thought to get trapped within synovium
• NSAIDs
• steroid injections
• joint replacement