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[Survival and development of neoplasms in 56 patients with idiopathic hemochromatosis]
M Fraquelli1, C Mandelli, L Cesarini
1Cattedra di Patologia Medica III, Istituto di Scienze Mediche, Università degli Studi di Milano.
Insights
Idiopathic hemochromatosis patients face significantly lower survival rates and a high risk of developing malignancies, particularly liver cancer. Early iron depletion via erythrocytapheresis shows promise in managing iron overload but does not eliminate cancer risks.
Area of Science:
- Hepatology
- Oncology
- Hematology
Background:
- Idiopathic hemochromatosis is a genetic disorder causing excessive iron absorption.
- Iron overload in hemochromatosis can lead to liver cirrhosis, cancer, and other organ damage.
- Long-term outcomes and malignancy risks in treated patients require further investigation.
Purpose of the Study:
- To evaluate the long-term outcomes of patients with idiopathic hemochromatosis.
- To assess the efficacy of erythrocytapheresis in iron depletion.
- To determine the cumulative incidence of malignancies and survival rates in this cohort.
Main Methods:
- Retrospective study of 56 idiopathic hemochromatosis patients.
- Analysis of liver biopsy results, iron depletion success rates, and mortality causes.
- Kaplan-Meier survival analysis and cancer incidence probability calculations.
Main Results:
- Iron depletion was achieved in 39 of 46 patients undergoing erythrocytapheresis.
- 18 patients died, with 11 deaths attributed to malignancy.
- Cancer developed in 14 patients; cumulative survival rates were significantly lower than the general population.
Conclusions:
- Idiopathic hemochromatosis is associated with reduced survival and increased cancer risk.
- Erythrocytapheresis can effectively deplete iron but does not fully mitigate malignancy risk.
- Patients require lifelong monitoring for complications, including cancer development.
Abstract:
Fifty-six patients with idiopathic hemochromatosis (50 men and 6 women, mean age 49.7 +/- SD 11.1 and 60.8 +/- SD 10.3 years respectively) were studied and followed up for a median period of 44 months (range 3-168). At basal liver biopsy 44 patients had cirrhosis and 12 fibrosis. Iron depletion was achieved in 39 of the 46 cases who underwent iron removal by erythrocytapheresis. Eighteen patients died, 11 from malignancy and 7 from other causes. A total of 14 malignant neoplasms were observed (6 hepatocellular and 8 extrahepatic), of which 6 (5 hepatocellular and 1 pancreatic) were already evident at enrollment. Cumulative survival rates at 3, 5 and 8 years were 75.4%, 64.2% and 54.4% respectively, significantly lower than those in the general population. Probabilities of developing cancer in the 50 patients without cancer at diagnosis were 5.5%, 14.9% and 44.4% at 3, 5 and 8 years respectively.