Evaluation of a Diagnostic Algorithm for Hereditary Hemochromatosis in 3,500 Patients With Diabetes
- Jan-Uwe Hahn, MD12,
- Michael Steiner, MD3,
- Sabine Bochnig2,
- Hartmut Schmidt, MD4,
- Peter Schuff-Werner, MD3 and
- Wolfgang Kerner, MD2
- 1Klinikum Suedstadt Rostock, Center for Vascular Medicine, Rostock, Germany
- 2Clinic for Diabetes and Metabolic Diseases Karlsburg, Karlsburg, Germany
- 3Institute of Clinical Chemistry and Laboratory Medicine, University of Rostock, Rostock, Germany
- 4Clinic for Transplantation Hepatology, University of Muenster, Muenster, Germany
- Address correspondence to Dr. Jan-Uwe Hahn, Clinic for Diabetes and Metabolic Diseases Karlsburg, Greifswalder Str. 11, 17495 Karlsburg, Germany. E-mail: januwe.hahn{at}t-online.de
Hereditary hemochromatosis may lead to hepatic cirrhosis, cardiomyopathy, diabetes, arthritis, and impotence (1, 2). In the Caucasian population, HFE gene mutations (C282Y and H63D) are present in the majority of patients demonstrating phenotypic expression (3–6). Conversely, the clinical penetrance in mutation carriers is low (7).
In the precirrhotic stage, ∼20% of hemochromatosic patients demonstrate hyperglycemia, with the prevalence increasing to >70% in the presence of liver cirrhosis (8). Two mechanisms contribute to the development of hyperglycemia and diabetes. Liver iron overload leads to insulin resistance, and the pancreatic β-cell iron accumulation results in cell damage and diminished insulin secretion (1). The prevalence of genotypic and phenotypic hemochromatosis is higher in diabetic versus nondiabetic populations (9–11).
In an attempt to distinguish patients with hemochromatosis-associated secondary diabetes from other forms of diabetes, we applied a screening program to diabetic patients aged ≥40 years. The present report summarizes …
