What is Hemochromatosis?

Hemochromatosis is a genetic disorder causing excessive iron absorption and accumulation in organs (liver, heart, pancreas, pituitary, joints), leading to organ damage. The classic triad is cirrhosis, diabetes, and skin hyperpigmentation ("bronze diabetes").

Classic Triad:

• 1. Cirrhosis (Liver Disease): From iron deposition
• 2. Diabetes Mellitus: Pancreatic damage ("bronze diabetes")
• 3. Bronze/Gray Skin Pigmentation: From iron and melanin deposition

Other Manifestations:

• Cardiac: Cardiomyopathy, arrhythmias, heart failure
• Arthropathy: Joint pain (hands, knees—"iron fist")
• Hypogonadism: Pituitary/gonadal iron deposition → low testosterone/estrogen
• Hypothyroidism
• Fatigue, Weakness
• Increased Liver Cancer Risk

Genetics & Diagnosis:

• HFE Gene Mutation (C282Y most common)
• Autosomal Recessive: Most common in Northern Europeans
• Diagnosis:
  • Elevated ferritin (>300 ng/mL men, >200 ng/mL women)
  • Elevated transferrin saturation (>45%)
  • Genetic testing (HFE mutation)
  • Liver MRI (quantify iron)

Treatment:

• Phlebotomy (Therapeutic Blood Removal): Weekly initially, then maintenance every 2-4 months
• Goal: Lower ferritin to <50-100 ng/mL
• Iron Chelation: If phlebotomy not possible (deferoxamine, deferasirox)
• Avoid: Iron supplements, vitamin C supplements (increases iron absorption), alcohol
• Treat Complications: Diabetes, heart failure, liver disease
• Family Screening

Prognosis:

• If Treated Early (Before Organ Damage): Normal life expectancy
• If Cirrhosis Developed: Increased liver cancer risk, reduced survival
• Diabetes and arthropathy often irreversible even with treatment