Author:

Abstract:

A scale of different diseases and syndromes may present as diabetes mellitus: among them, hereditary hemochromatosis (HHC), a frequent disease in Caucasians, with an autosomal recessive inheritance pattern. Patients with HHC have a relative hepcidin defeciency, resulting in an excessively high intestinal iron absorption. Clinical manifestations of HHC may vary, the disease usually becoming manifest between 40 and 60 years of age, due to the cumulative effect of iron toxicity. Diagnostic tools include quantification of serum ferritin and transferrin saturation. The treatment of HHC is simple, inexpensive and effective: patients undergo weekly phlebotomies until the transferrin saturation is below 30 percent, followed by maintenance phlebotomy. Hepatic dysfunction, insulin resistance and insulin deficiency ultimately result in the development of diabetes mellitus as a late complication in 50 percent of patients with HHC. Early diagnosis of HHC could lead to a decreased frequency of complications such as diabetes. Moreover, it could diminish the frequency of deleterious complications, such as cirrhosis and hepatocellular carcinoma. Genetic screening for HHC in the general population is currently discouraged. Enhanced case finding could be useful in the first relatives of symptomatic HHC-patients. A simple biochemical screening is strongly recommended in every newly diagnosed diabetes patient. Insulin resistance and deficiency markedly improve under a phlebotomy regimen in patients with HHC-induced diabetes mellitus. Furthermore, the treatment of HHC-induced diabetes does not differ from the general management of type 2 diabetes mellitus.