Name of the Condition

• Hemochromatosis, unspecified
• Also known as Iron overload disorder

Summary

Hemochromatosis is a medical condition characterized by excessive absorption and storage of iron by the body. The excess iron can deposit in various organs, particularly the liver, heart, and pancreas, leading to potential damage and dysfunction.

Causes

Hemochromatosis is often caused by genetic mutations, particularly in the HFE gene. It can also result from other medical conditions, such as chronic liver disease or frequent blood transfusions, and sometimes the exact cause is unspecified.

Risk Factors

• Family history of hemochromatosis
• Genetic predisposition (HFE gene mutation)
• Being male, as men are more likely to develop symptoms earlier
• Overconsumption of iron supplements or iron-rich diets

Symptoms

• Fatigue and weakness
• Joint pain
• Abdominal pain
• Skin changes, such as a bronze or gray hue
• Diabetes
• Heart problems

Diagnosis

• Blood tests to measure iron levels (serum ferritin, transferrin saturation)
• Genetic testing for HFE gene mutations
• Liver biopsy in some cases to assess liver damage

Treatment Options

• Phlebotomy: Regular blood removal to reduce iron levels.
• Chelation therapy: Medications that bind excess iron and aid in its excretion.
• Adjusting dietary intake to limit iron-rich foods.

Prognosis and Follow-Up

With timely diagnosis and treatment, individuals can manage hemochromatosis effectively, reducing the risk of complications. Regular follow-ups are essential to monitor iron levels and organ function.

Complications

• Cirrhosis or liver cancer
• Diabetes
• Heart disease
• Arthritis
• Hormonal imbalances

Lifestyle & Prevention

• Consume a balanced diet low in iron and alcohol.
• Regular blood donation as a preventive measure for those at risk.
• Genetic counseling for families with a history of hemochromatosis.

When to Seek Professional Help

Seek medical attention if you experience unexplained fatigue, joint pain, or skin discoloration, especially if you have a family history of hemochromatosis.

Additional Resources

• American Hemochromatosis Society
• Centers for Disease Control and Prevention (CDC)
• National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)

Tips for Medical Coders

• Ensure accurate classification of hemochromatosis, noting unspecified cases with ICD code E83.119.
• Verify any accompanying diagnoses or complications to capture the patient’s complete clinical picture.
• Avoid common errors like misclassifying genetic vs. acquired iron overload.