The FP suspected that the patient had a Kayser-Fleischer ring around the edge of the cornea. The ring is the color of copper and is caused by copper deposition. The FP ordered serum ceruloplasmin because she suspected Wilson disease as the cause of the eye finding, the fatigue, and the abnormal liver function tests.
The patient’s serum ceruloplasmin was markedly low, so a 24-hour urine copper test was ordered and that came back elevated. This established the diagnosis of Wilson disease and the patient was referred to Gastroenterology for management.
Wilson disease is an autosomal recessive disease that results in defective copper transport and copper toxicity. Copper is deposited in the liver and brain, resulting in liver disease, cirrhosis, and various neurologic abnormalities. Neurologic manifestations include fatigue, behavior changes, tremors, and difficulty walking or swallowing. Gastrointestinal symptoms can include nausea, abdominal pain, and jaundice.
Treatment involves the chelation of copper using either penicillamine or trientine. Once the copper level is sufficiently reduced, the patient is placed on zinc acetate for maintenance therapy.
In this case, the patient was started on penicillamine. When she was unable to tolerate that, her medication was switched to trientine. Over time her fatigue improved and her liver function tests normalized.
Photo courtesy of Marc Solioz. Text for Photo Rounds Friday courtesy of Richard P. Usatine, MD. This case was adapted from: Smith M, Mathia A. Liver disease. In: Usatine R, Smith M, Mayeaux EJ, et al. Color Atlas of Family Medicine. 2nd ed. New York, NY: McGraw-Hill; 2013:377-385.
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