A 52-year-old man complains of impotence. On physical examination, he has an elevated jugular venous pressure, S3 gallop, and hepatomegaly. He also appears tanned, with pigmentation along skin folds. He has joint pain and bony overgrowth primarily affecting the second and third metacarpophalangeal joints bilaterally. The plasma glucose is 250 mg/dL, and liver enzymes are elevated. Which of the following studies will help establish the diagnosis?
Iron overload should be considered among patients who present with any one or a combination of the following: hepatomegaly, weakness, hyperpigmentation, atypical arthritis, diabetes, erectile dysfunction, unexplained chronic abdominal pain, or cardiomyopathy. Diagnostic suspicion should be particularly high when the family history is positive for similar clinical findings. The most frequent cause of iron overload is the common genetic disorder, idiopathic hemochromatosis. Secondary iron storage problems can occur after multiple transfusions in a variety of anemias. The most practical screening test is the determination of serum iron, transferrin saturation, and ferritin. Transferrin saturation greater than 50% in males or 45% in females suggests increased iron stores. Substantially elevated serum ferritin levels confirm total body iron overload. Genetic screening is now used to assess which patients are at risk for severe fibrosis of the liver. Definitive diagnosis can be established by liver biopsy. Determination of serum copper is needed when Wilson disease is the probable cause of hepatic abnormalities. Wilson disease does not cause hypogonadism, heart failure, diabetes, or arthropathy. Chronic liver disease caused by hepatitis B would not account for the heart failure, hyperpigmentation, or diabetes. Nocturnal penile tumescence and echocardiogram can confirm clinical findings but will not establish the underlying diagnosis.
Detection of nocturnal penile tumescence
Determination of iron saturation
Determination of serum copper
Detection of hepatitis B surface antigen
Endocrinology