Diagnosis and Management of Hemochromatosis with Diabetes

Introduction to Hemochromatosis

The American Association for the Study of Liver Diseases (AASLD) recommends therapeutic phlebotomy to reduce morbidity and mortality in patients with hemochromatosis, with the goal of depleting iron stores to a ferritin level of 50-100 µg/L 1, 2, 3
The European Association for the Study of the Liver (EASL) defines bronze diabetes as the classic triad of hemochromatosis: cirrhosis, diabetes mellitus, and skin pigmentation (bronze or gray-brown discoloration) 4, 5

The American Association for the Study of Liver Diseases (AASLD) suggests suspecting hemochromatosis in any adult presenting with fatigue, right upper quadrant pain, arthralgias, impotence, decreased libido, or symptoms of heart failure or diabetes 4
The European Association for the Study of the Liver (EASL) recommends confirming diagnosis with transferrin saturation (TSAT) >45% in females or >50% in males combined with elevated ferritin (>200 µg/L in females, >300 µg/L in males) 5
The American Association for the Study of Liver Diseases (AASLD) advises HFE genetic testing showing C282Y homozygosity to confirm hereditary hemochromatosis 5

The American Association for the Study of Liver Diseases (AASLD) recommends removing 500 mL of blood (one unit) weekly or twice weekly as tolerated, with each unit containing approximately 200-250 mg of iron 1, 2, 8
The European Association for the Study of the Liver (EASL) suggests checking hemoglobin/hematocrit before each session and monitoring ferritin every 10-12 phlebotomies (approximately every 3 months) 1, 8, 9
The American Association for the Study of Liver Diseases (AASLD) recommends a target ferritin level of 50-100 µg/L during treatment 1, 5, 10

The American Association for the Study of Liver Diseases (AASLD) notes that responsive features to phlebotomy include malaise, fatigue, skin pigmentation, insulin requirements for diabetics, abdominal pain, and cardiac function 1, 2, 7, 3
The European Association for the Study of the Liver (EASL) states that less responsive or non-responsive features include arthropathy, hypogonadism, advanced cirrhosis, and testicular atrophy 1, 2, 3, 8, 11

The American Association for the Study of Liver Diseases (AASLD) advises avoiding vitamin C supplements, as they accelerate iron mobilization and can increase toxic free iron 8, 9, 10
The European Association for the Study of the Liver (EASL) recommends minimizing alcohol consumption, as it increases iron absorption and worsens liver damage 9
The American Association for the Study of Liver Diseases (AASLD) suggests avoiding iron-fortified foods and iron supplements 10

The American Association for the Study of Liver Diseases (AASLD) recommends continuing hepatocellular carcinoma (HCC) screening even after adequate phlebotomy, as HCC risk persists in patients with established cirrhosis 1, 11, 3
The European Association for the Study of the Liver (EASL) notes that HCC accounts for 30% of hemochromatosis-related deaths, and cirrhosis complications account for another 20% 1, 11, 3

The American Association for the Study of Liver Diseases (AASLD) states that survival is dramatically improved if treatment begins before cirrhosis and diabetes develop 1, 2, 7, 3
The European Association for the Study of the Liver (EASL) recommends early identification through family screening or incidental laboratory findings to allow treatment of asymptomatic patients with iron overload markers, preventing end-organ damage entirely 4, 3