Haemochromatosis

Haemochromatosis, also known as iron overload disorder, is a condition where too much iron accumulates in the body. This excess iron is toxic to organs and can lead to serious complications. There are two main types: hereditary (primary) haemochromatosis and secondary haemochromatosis, caused by another disease or condition.

Causes

  • Hereditary Haemochromatosis: Caused by genetic mutations, typically in the HFE gene. The most common is C282Y, followed by H63D mutations.
  • Secondary Haemochromatosis: Results from chronic blood transfusions, excessive iron intake, or chronic liver diseases like alcoholic liver disease.

Diagnosis

  • History:
    • Symptoms: Fatigue, joint pain, abdominal pain, sexual dysfunction, and skin darkening. Symptoms often don’t appear until mid-life.
    • Family History: Of haemochromatosis or liver disease.
    • Alcohol Consumption: Excessive alcohol can exacerbate iron overload.
  • Examination:
    • Liver: Enlargement and tenderness indicating liver involvement.
    • Skin: Bronze or grey skin discoloration.
    • Joint Examination: For arthritis, especially in the hands.
  • Investigations:
    • Serum Ferritin: Elevated levels indicate iron overload.
    • Transferrin Saturation: High levels are an early indicator of haemochromatosis.
    • Liver Function Tests: To assess liver damage.
    • Genetic Testing: For HFE gene mutations (C282Y, H63D).
    • MRI: To assess iron load in the liver.
    • Liver Biopsy: Sometimes used to determine the extent of liver damage.

Differential Diagnosis (DDx)

  • Liver Diseases: Such as alcoholic liver disease, viral hepatitis.
  • Rheumatologic Conditions: For joint symptoms, such as rheumatoid arthritis.
  • Diabetes Mellitus: Due to shared symptoms like fatigue.
  • Other Causes of Arthropathy: Like osteoarthritis.

Management

  • Phlebotomy: The primary treatment, involves regularly removing blood to reduce iron levels.
  • Chelation Therapy: Used in secondary haemochromatosis when phlebotomy is not possible. Desferoxamine
  • Dietary Management: Avoiding iron supplements, reducing red meat intake, and avoiding vitamin C supplements which can increase iron absorption.
  • Alcohol Reduction: To minimize liver damage.
  • Regular Monitoring: Of iron levels and liver function.
  • Management of Complications: Like diabetes, liver cirrhosis, and heart problems.
  • Genetic Counseling: For patients and their families.
  • Screening: For family members of individuals diagnosed with hereditary haemochromatosis.
  • Awareness: About the importance of early diagnosis and treatment to prevent organ damage.

Conclusion

Haemochromatosis is a condition that can lead to significant morbidity if not treated. Early diagnosis through screening, especially in individuals with a family history, and effective management can prevent complications and lead to a normal life expectancy. Regular follow-up is critical to monitor iron levels and organ function.