Authors: Venu Julapalli, MD, Andrea Duchini, MDSeries Editor: Richard Goodgame, MD


February 03, 2003

Case Presentation

The patient is a 31-year-old woman who came to the United States from El Salvador 10 years ago. One year ago she experienced fatigue, loss of appetite, nausea, and nonbloody vomiting. Over the next few months, she slowly developed progressive abdominal swelling and bilateral lower-extremity edema. One month ago she developed jaundice. She had dyspnea upon walking about 2 blocks. There was no orthopnea, chest pain, hematochezia, or melena. She noted difficulty with memory and sleep but no other neurologic impairment.

The patient grew up in El Salvador but has lived in the United States for the last 10 years. She used to drink alcohol heavily, but stopped about 1 year ago. She has had no tobacco use, intravenous-drug abuse, alternative medicine use, or blood transfusions. Her mother died at age 46 from cirrhosis of the liver, of unknown etiology.

Physical examination showed normal vital signs. She was deeply jaundiced. There were multiple stigmata of chronic liver disease, including palmar erythema, spider angiomata, edema, ascites, and splenomegaly. The head, ears, eyes, nose, and throat were normal. Cardiac and pulmonary examinations were normal. The liver span was 13 cm by percussion. The edge was firm and irregular, easily felt 3 cm below the right costal margin in the midclavicular line. The neurologic examination was normal.

Results of routine laboratory studies revealed the following:

Hemoglobin, 7 g/dL
White blood cell count, 4 x 103 cells/mm3
Platelets, 117 x 103/mm3
Mean corpuscular volume, 91 fL
Total protein, 8 g/dL
Albumen, 2.6 g/dL
Total bilirubin, 10 g/dL
Direct bilirubin, 5 g/dL
Alkaline phosphatase, 140 U/L
Alanine aminotransferase (ALT), 17 U/L
Aspartate aminotransferase (AST), 76 U/L
International normalized ratio, 2.8

All viral and autoimmune serologies were negative. Iron studies and alpha-1-antitrypsin levels were normal. Alcoholic cirrhosis had been the patient's previous diagnosis. Given the positive family history of cirrhosis and the patient's young age, a hereditary disorder such as Wilson's disease was considered possible.


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