What is the treatment for a patient with hemochromatosis (iron overload disorder) presenting with arthropathy (joint disease), bronze skin, and diabetes mellitus (DM)?

Treatment of Hemochromatosis with Arthropathy, Bronze Skin, and Diabetes

Initiate therapeutic phlebotomy immediately as the primary treatment, removing one unit of blood weekly or twice weekly until serum ferritin reaches 50-100 μg/L, which will improve the bronze skin pigmentation and reduce insulin requirements for diabetes, though the arthropathy will show minimal to no improvement. 1

Primary Treatment: Therapeutic Phlebotomy

Phlebotomy remains the mainstay of treatment for hemochromatosis and must be started urgently to prevent further organ damage and reduce mortality. 1, 2

Induction Phase Protocol

• Remove one unit of blood (450-500 mL) containing approximately 200-250 mg of iron once or twice per week as tolerated 1, 2
• Measure hemoglobin or hematocrit before each phlebotomy session to avoid reducing these values to less than 80% of the starting baseline 1, 2
• Monitor serum ferritin after every 10-12 phlebotomies (approximately every 3 months) during initial treatment 1
• Continue induction phlebotomy until serum ferritin drops to the target range of 50-100 μg/L 1, 2
• Expect the induction phase to take up to 2-3 years in patients with total body iron stores exceeding 30 grams 1

Maintenance Phase Protocol

• After achieving iron depletion, assess whether the patient requires ongoing maintenance phlebotomy, as not all patients reaccumulate iron at the same rate 1
• Maintain serum ferritin between 50-100 μg/L through periodic phlebotomy 2
• Frequency varies widely among individuals: some require monthly phlebotomy while others need only 1-2 units removed per year 1
• Avoid inducing iron deficiency, which should be prevented 1

Expected Clinical Responses to Phlebotomy

Symptoms That Will Improve

• Bronze skin pigmentation will improve with iron removal 1
• Insulin requirements for diabetes will decrease, though diabetes itself may not fully resolve 1
• Fatigue and malaise will improve 1
• Abdominal pain will decrease 1

Symptoms That Will NOT Improve

• Arthropathy shows minimal to no response to phlebotomy and will require separate symptomatic management 1
• Advanced cirrhosis, if present, will not reverse 1
• Testicular atrophy and hypogonadism show minimal response 1

Critical Prognostic Consideration

This patient already has diabetes, which indicates advanced disease and a worse prognosis. Early initiation of phlebotomy before the development of cirrhosis and diabetes significantly reduces morbidity and mortality, but once diabetes has developed, survival is already compromised even with treatment 1, 2

Additional Management for Diabetes

• The diabetes mellitus will require standard diabetic management with medications, as phlebotomy alone will only reduce insulin requirements but not cure the diabetes 1
• Monitor glycemic control closely as insulin requirements may decrease during iron depletion 1

Additional Management for Arthropathy

• The arthropathy requires separate symptomatic treatment with NSAIDs, physical therapy, or other joint-directed therapies, as it will not respond to iron removal 1
• Joint disease may have been present for years before diagnosis and represents irreversible damage 3, 4

Screening for Complications

• If cirrhosis is present or develops, initiate regular screening for hepatocellular carcinoma (HCC), which accounts for approximately 30% of hemochromatosis-related deaths 1, 2
• HCC screening must continue even after successful phlebotomy, as the risk persists in cirrhotic patients 1
• Evaluate for cardiac abnormalities, as cardiac function may improve with phlebotomy 1, 2

Dietary Modifications

• Avoid medicinal iron supplements and iron-fortified foods 2, 5
• Avoid supplemental vitamin C, especially before achieving iron depletion, as it accelerates iron mobilization and increases oxidative stress 6, 2, 5
• Limit red meat consumption 2
• Restrict alcohol intake to prevent further liver damage 2
• Avoid raw or undercooked shellfish due to risk of Vibrio vulnificus infection, which is particularly dangerous in patients with iron overload 2, 5

Alternative Treatment Option

• Iron chelation therapy with deferasirox is a second-line option only when phlebotomy is not possible or tolerated, but it is not approved for hemochromatosis and should not be used in patients with advanced liver disease 2

Common Pitfall

The major pitfall is delaying treatment while attempting to manage individual symptoms (diabetes, arthropathy, skin changes) separately without addressing the underlying iron overload. The presence of the classic triad (arthropathy, bronze skin, diabetes) indicates advanced disease requiring immediate phlebotomy to prevent further progression to cirrhosis and hepatocellular carcinoma. 1, 3, 4