[Primary hemochromatosis in asymptomatic young patients]

In order to increase our knowledge of adult haemochromatosis epidemiology and its clinical behaviour in young patients, we studied 4 patients from 3 pedigrees with idiopathic haemochromatosis.

Diagnostic criteria were: 1) Discarding the presence of secondary haemosiderosis. 2) Histological and histochemical confirmation of hepatic iron overload. Mean age at time of diagnosis was 25.2 years. Male/female ratio was 1.

All of them were clinically asymptomatic, what shows the main difference with juvenile haemochromatosis, presenting earlier and more aggressively. Physical examination could not find abnormalities in any case. Regarding analytical studies, the main results were as follows: mean serum iron level was 209.5 mg/dl (s = 37.8), transferrin 206 mg/dl (s = 24.5), transferrin saturation was 77.4% (s = 9); ferritin, ASAT & ALAT were abnormal exclusively in the 2 males), the other measurements being between normal limits in all cases. Abdominal MRI showed an impaired hepatic signal in 2 cases. Liver biopsy was accomplished in 3 of them, showing massive deposits of hemosiderin in the hepatocytes in the 2 male cases and chronic hepatitis in one of them. There was no evidence of damage to other organs. Genetic studies showed that the 2 siblings were homozygous for the HFE 845GAEA (C282Y) mutation and in the other 2 cases HLA-A3,B7 was found to be associated. At present, after a year or more, all of them remain asymptomatic, liver function tests and mean serum ferritin levels are within normal limits, IST is < 65%, while Hb continues being > 11 g/dl.

To conclude, we would like to emphasize the extraordinary importance of early diagnosis and careful treatment in this common and remediable illness (otherwise lethal), to reach a normal and symptoms-free lifespan.