Diagnosis and management of hemochromatosis

In summary, HH should be distinguished from the other syndromes of iron overload. It should be realized that many patients have abnormal serum iron study results before development of any significant symptoms or clinical findings and that liver biopsy should still be considered in most patients as a requirement for diagnosis. As we gain additional experience with various aspects of the genetic test, we will learn how this test is best integrated into our diagnostic armamentarium, and we may find that some patients do not require a liver biopsy for a definitive diagnosis. Additionally, generalized population screening may become a reality and lead to identification of patients before they have tissue damage or increased morbidity. Finally, with the identification of the genetic abnormality, we may begin to unravel some of the many mysteries of both normal iron absorption and the disordered iron metabolism found in patients with HH.