THE RELATIONSHIP BETWEEN IRON OVERLOAD, CLINICAL SYMPTOMS, AND AGE IN410 PATIENTS WITH GENETIC HEMOCHROMATOSIS

The aim of this study was to investigate the relationship between iron overload, age, and clinical symptoms in genetic hemochromatosis. The relationship was studied between clinical symptoms and liver iron conc entration, serum ferritin, and iron removed in a retrospective study o f 410 homozygotes diagnosed using strict criteria. No significant rela tionship was found between liver iron concentration, iron removed by v enesection, and serum ferritin level with age. The prevalence of cirrh osis, diabetes, cardiac disease, pigmentation, and fatigue increased a s liver iron concentration increased. The most common presentations at diagnosis were fatigue or as an incidental finding in all age groups. Twenty-seven percent of patients (110 of 410) had no clinical symptom s of hemochromatosis. Iron accumulation is highly variable in patients with genetic hemochromatosis. The significant relationship between li ver iron concentration and cirrhosis, diabetes, cardiac disease, pigme ntation, and fatigue confirms the importance of iron toxicity in the p athogenesis of hepatic and extrahepatic disease. The nonspecific natur e of the presenting features in patients and the presence of significa nt clinical symptoms in patients discovered through family investigati ons underscore the importance of family and population screening for h emochromatosis.