Diabetes inHFEHemochromatosis.
Diabetes in whites of European descent with hemochromatosis was first attributed to pancreatic siderosis. Later observations revealed that the pathogenesis of diabetes inHFEhemochromatosis is multifactorial and its clinical manifestations are heterogeneous. Increased type 2 diabetes risk inHFEhemochromatosis is associated with one or more factors, including abnormal iron homeostasis and iron overload, decreased insulin secretion, cirrhosis, diabetes in first-degree relatives, increased body mass index, insulin resistance, and metabolic syndrome. In p.C282Y homozygotes, serum ferritin, usually elevated at hemochromatosis diagnosis, largely reflects body iron stores but not diabetes risk. In persons with diabetes type 2 without hemochromatosis diagnoses, serum ferritin levels are higher than those of persons without diabetes, but most values are within the reference range. Phlebotomy therapy to achieve iron depletion does not improve diabetes control in all persons withHFEhemochromatosis. The prevalence of type 2 diabetes diagnosed today in whites of European descent with and withoutHFEhemochromatosis is similar. Routine iron phenotyping orHFEgenotyping of patients with type 2 diabetes is not recommended. Herein, we review diabetes inHFEhemochromatosis and the role of iron in diabetes pathogenesis in whites of European descent with and withoutHFEhemochromatosis.
Southern Iron Disorders Center, Birmingham, AL 35209, USA; Department of Medicine, University of Alabama at Birmingham, Birmingham, AL 35294, USA.
James C
0000-0003-2876-8276
JC
Barton
Southern Iron Disorders Center, Birmingham, AL 35209, USA; Department of Microbiology, University of Alabama at Birmingham, Birmingham, AL 35294, USA.
Ronald T
RT
Acton
D003924:Diabetes Mellitus, Type 2 / Q000097:blood / Q000150:complications*; D005293:Ferritins / Q000097:blood; D005838:Genotype; D006432:Hemochromatosis / Q000097:blood / Q000150:complications* / Q000235:genetics; D000071020:Hemochromatosis Protein / Q000235:genetics; D006801:Humans
D000071020:Hemochromatosis Protein; D005293:Ferritins