treatment plan for hemochromatosis
Phlebotomy is performed twice weekly until transferrin saturation is <50% and ferritin is <50 μg/L (up to 2–3 years) and then as required (usually every 3–4 months) to maintain low normal serum levels (ferritin <300 μg/L in men, <200 μg/L in women). Life expectancy of symptomatic patients is extended considerably by removal of excess iron stores (90% 5-year survival versus 33% survival without therapy). With therapy, hepatomegaly, liver function studies, and pigmentation all improve and cardiac function stabilizes or improves. Diabetes mellitus improves in approximately 50% of cases. Phlebotomy has little effect on hypogonadism or arthropathy. Hepatic fibrosis may improve, but cirrhosis is irreversible. Hepatocellular carcinoma, a late sequela in one-third of those who develop hepatic cirrhosis (risk increased by a factor of 20–200), is not diminished by phlebotomy and is the major cause (30%–45%) of death in treated individuals. Therefore, a biannual abdominal scan (ultrasound or computed tomography) and measurement of serum α-fetoprotein levels are recommended for hepatocellular cancer screening. Because the life expectancy of homozygotes diagnosed and treated before the development of cirrhosis is the same as that of the general population, the importance of family screening and early therapy cannot be overemphasized. All patients with HHC should be advised to avoid alcohol, medicinal iron, excess vitamin C, and uncooked seafood.
