A Patient with Diabetes, Hepatitis C Virus Infection, and Hemochromatosis Gene Mutation

Abstract

J.W., a 51-year-old African-American man, presented with fatigue, polyuria, and polydipsia. He was diagnosed with insulin-dependent diabetes mellitus 1 year ago when he presented with nonketotic hyperglycemic hyperosmolar syndrome. At the initial presentation, his blood glucose was 625 mg/dl, and his A1C was 18.9%. His adherence to a diabetes treatment, including basal and premeal insulin, was poor, which led to four different hospitalizations with hyperglycemic crises during the past year. His family history was unknown because he was adopted. Physical examination was remarkable for sinus tachycardia and dry mucous membranes. He was afebrile, was hemodynamically stable, and had a BMI of 22.2 kg/m2. Initial laboratory testing showed hemoglobin of 12.8 g/dl, sodium of 133 mmol/l, creatinine of 0.9 mg/dl, glucose of 590 mg/dl, bicarbonate of 29 mmol/l, normal anion gap, and negative urinary ketones. A chest X-ray and urinalysis did not indicate the presence of infection. He was treated with forced hydration and insulin therapy, with rapid resolution of hyperglycemia. During this admission, his A1C was 12.1%; thyroid-stimulating hormone and total testosterone were within normal limits. A fasting lipid panel revealed total cholesterol of 129 mg/dl, triglycerides of 74 mg/dl, and HDL cholesterol of 32 mg/dl. Subsequent laboratory studies done in the fasting condition revealed ferritin of 1,789 ng/ml, iron of 202 μg/dl, and transferrin of 276 μg/dl (calculated transferrin saturation of 73%); iron studies were repeated yielding similar results. Liver tests were significant for aspartate aminotransferase (AST) of 56 U/l and alanine aminotransferase (ALT) of 76 U/l, indicating mild elevation. Serological studies for chronic hepatitis demonstrated presence of hepatitis C (HCV), type 1b genotype. His C-peptide level was 0.7 ng/ml, and antibodies to GAD65 were not detected. Genetic testing for hereditary hemochromatosis (HH) showed that the patient was heterozygous for C282Y mutation (a carrier state). Hemoglobin electrophoresis …