A large number of relatives of patients with hemochromatosis have related diseases that have not been detected clinically, according to a report in this week's New England Journal of Medicine.
A team from the University of Utah School of Medicine, and the LDS Hospital, Salt Lake City, USA studied the prevalence of disease-related conditions among relatives of patients with hemochromatosis.
Hemochromatosis is known to occur in approximately 5 white people per 1000.
Patients who presented themselves to a clinic with signs or symptoms of hemochromatosis, or who had elevated transferrin-saturation values, were identified.
Homozygous relatives (mainly siblings) were identified on the basis of HLA identity with the patient and by HFE genotyping.
Iron overload in homozygous relatives:
Disease-related conditions monitored were cirrhosis, hepatic fibrosis, elevated aminotransferase values, and hemochromatotic arthropathy.
214 homozygous relatives of 291 homozygous patients were identified.
Of the 113 men in this group (mean age, 41 years), 85 % had iron overload, and 38 % had at least one disease-related condition. Of the 52 men over 40 years of age, 52 % had at least one disease-related condition.
Of the 101 female homozygous relatives (mean age, 44 years), 68 % had iron overload, and 10 % had at least one disease-related condition. Of the 43 women over 50 years of age, 16 % had at least one disease-related condition.
If the patient had a disease-related condition, relatives who were men were more likely to have morbidity than if the patient had no disease-related condition.
Dr James Kushner concluded on behalf of the group that, "A substantial number of homozygous relatives of patients with hemochromatosis, more commonly men than women, have conditions related to hemochromatosis that have yet to be detected clinically."