A 68-year-old Caucasian woman, presented with abnormal results of liver function tests, a ferritin level of 2118 μg/L (normal levels are 15 to 225 μg/L), and transferrin saturation of 98%. She complained of severe fatigue. Her body mass index was 33. Comorbid conditions included type 2 diabetes mellitus, asthma, hypothyroidism, borderline hypertension, borderline diastolic dysfunction, and a fatty liver diagnosed on ultrasound. She rarely consumed alcohol.
She had been ingesting milk thistle for more than a year in an attempt to improve her liver function. She was taking 1 pill a day (200 mg) of the Health Balance brand of milk thistle. Nonmedicinal ingredients in the milk thistle preparation were listed as sunflower oil, gelatin, purified water, glycerin, monoglycerides, lecithin, yellow beeswax, carob extract, and titanium dioxide. She also took a maximum of 2 extra-strength acetaminophen pills every 2 or 3 days and drank a can of cola every day.
Her liver function test results showed a γ-glutamyl transpeptidase (GT) level of 305 U/L (normal is <35 U/L), an alanine aminotransferase level of 56 U/L (normal is <36 U/L), and an aspartate aminotransferase level of 49 U/L (normal is <36 U/L). Results of tests for hepatitis B and C, HIV, and porphyria cutanea tarda were negative. Renal function, copper level, and α-protein tests were normal. Her hemoglobin (Hb) A1c was 5.9% (normal is 4.8% to 6.2%).
High transferrin saturation often points to mutations in the HFE gene; HFE is the designation for the gene on the short arm of chromosome 6 that is associated with certain human leukocyte antigens and might be instrumental in iron or ferritin overload. Testing confirmed that the patient was homozygous for the C282Y mutation. Based on HFE test results, ferritin level, and transferrin saturation, she was diagnosed with hemochromatosis. Phlebotomy therapy was recommended. At this point, it was suggested that she discontinue the milk thistle, but she did not.
Deironing of 1 g of iron via 4 venesections resulted in a rapid fall in ferritin level, but γ-GT, alanine aminotransferase, and aspartate aminotransferase levels actually rose (). Consideration of a liver biopsy was postponed as her profile suggested non-alcoholic steatohepatitis (NASH). She was once again asked to discontinue the milk thistle.
She stopped taking the milk thistle and the moderate amounts of acetaminophen and cola she was ingesting. Her liver function and general well-being improved rapidly. After a total of 8 venesections of 500 mL each (equivalent to a total of 2 g of iron) her ferritin level had fallen to 141 μg/L, and results of her liver function tests were virtually normal. The vene-sections were done at approximate weekly intervals.