Natural History and Management of HFE-hemochromatosis

Eng K. Gan, M.B.B.S.; Lawrie W. Powell, M.B.B.S., M.D., Ph.D., F.R.A.C.P., F.R.C.P.; John K. Olynyk, B.Med.Sc., M.B.B.S., M.D., F.R.A.C.P.


Semin Liver Dis. 2011;31(3):293-301. 

In This Article

How Do I Diagnose HH?

A high index of clinical suspicion and thorough assessment of the severity of systemic iron overload forms the basis of the diagnostic approach to HH. Following the initial assessment, decisions will be made regarding the choice of investigations, treatment and monitoring. Key elements of the diagnostic approach include establishment of HFE-related or other causes of iron overload, assessment of the severity of iron overload and evidence of tissue injury. In addition, the presence of comorbid medical or liver conditions may modify the clinical manifestations of the disease. A diagnostic algorithm is illustrated in Fig. 1.

Figure 1.

Algorithm for the clinical management of hereditary hemochromatosis.