Abstract 2003

Poster Board I-1025

Background & Aims Clinical presentation of hereditary hemochromatosis markedly changed in the recent years. The aim of the study was to analyze a large series of consecutive Italian patients with hemochromatosis diagnosed between 1976 and 2007 to define whether the genetic background and the presence of acquired risk factors influenced the severity of iron overload and the natural history of the disease across the years. Methods: A cohort of 452 Italian patients with iron overload, of whom 338 HFE-related (C282Y homozygotes or compound C82Y/H63D heterozygotes, and 114 non-HFE-related, prospectively followed for a median of 112 months. Results: Alcohol intake, smoking habits and iron removed to depletion were similar in patients with and without HFE-related iron overload. HBV (4% and 10% p=0.03) and HCV (9% and 17% p=0.02) infections were more frequent in patients with non-HFE-related iron overload. Seventy-three percent and 61% of the patients with HFE and non-HFE-related disease had no acquired risk factor. Cirrhosis was significantly more frequent in non-HFE patients, independently of the presence of acquired risk factors (p=0.02). Gender, alcohol intake, prevalence of smokers, HCV infection, glucose, lipids, iron-related parameters and prevalence of C282Y/H63D significantly differed across the years. At enrolment cirrhosis was present in 145 cases, being significantly more frequent in the first decade (80%, 47% and 13%, p=0.001). Survival did not differ across the decades in cirrhotic patients, HCC occurring similarly in HFE and non-HFE patients. Conclusion: Patients with HFE and non-HFE related iron overload have comparable iron overload and similar clinical history. Patients, unless cirrhotics at enrolment, diagnosed during the last 10 years have less severe disease and lower prevalence of acquired risk factors, independently of genetic background.


No relevant conflicts of interest to declare.

Author notes


Asterisk with author names denotes non-ASH members.