Changing the clinical management of hereditary hemochromatosis: translating screening and early case detection strategies into clinical practice.

Background: This article describes the effect of an extensive physician educational program on detection and management of hereditary hemochromatosis (HH) before and after a hemochromatosis population screening study.

Methods: We measured the changes in clinical management by medical chart review for newly diagnosed cases before and after the educational program. The effect on detection of HH cases was determined by mail survey to primary care physicians in our health system.

Results: The median age at diagnosis of HH was 54 years before the study and 45 years after the study (P =.12). In the same period, among those with diagnosed hemochromatosis, the mean prestudy ferritin level changed from 1848 ng/mL to 606 ng/mL after the study (P =.03). The mean number of units removed by phlebotomy to complete "de-ironing" in diagnosed patients was 40 U before the study and 18 U after the study (P =.06); the number of months required for de-ironing was 15 months before the study and 6 months after the study (P =.02). Before the study, no primary care physician was screening for HH. Two years after completion of the study, 11% (6/54) of primary care physicians indicated they had continued to screen all patients for hemochromatosis.

Conclusions: Early detection and treatment of iron overload may be facilitated by educating health care providers and insurers about an "iron-avid" state, occurring in healthy patients who would benefit from periodic surveillance of their iron status. Continued education of physicians concerning diagnosis and treatment of HH aids progress toward increased early case detection.