Lallo, aged 54 years, who is a known diabetic patient develops cirrhosis. There is associated skin hyperpigmentation and restrictive cardiomyopathy which of the following is the best initial test to diagnose this case.
Answer is A (Iron binding capacity): The presence of hyperpigmentation and diabetes (bronze diabetes) together with restrictive cardiomyopathy and cirrhosis.suggests a diagnosis of hereditary hematochromatosis. The best initial test to diagnose hereditary hematochromatosis are Transferrin saturation and unsaturated Iron binding capacity As transferrin saturation is not provided amongst the options, Iron binding capacity is the single best answer of choice. Note Serum ferritin levels are a good index of body iron stores and are raised early during the cause of disease. Yet serum ferritin levels should not he used as initial screening test to detect hereditary hematochromatosis. This is because serum ferritin also acts as an acute phase reactant and its levels are increased in variable infections and inflammatory conditions without iron overload. Also the serum concentration of ferritin may be increased in patients with hepatocelltdar injury as in viral hepatitis, alcoholic fatty liver disease or alcoholic liver diseases due to increased release from tissue cells.
Iron binding capacity
Serum ferritin
Serum copper
Serum ceruloplasmin