A 20-yr-old white woman consulted her family physician for secondary amenorrhea; the only abnormality found at that time was iron deficiency anemia. The subsequent workup revealed grade 2 esophageal varices with sonographic signs of portal hypertension and possible cirrhosis; the portal vein was patent, as shown by Doppler sonography. One month later the patient experienced hematemesis and was hospitalized. Her personal and family histories were unremarkable. In particular, there was no prolonged jaundice in the perinatal period. Review of systems revealed only intermittent pruritus for the past 2 yr.
On physical examination, the patient appeared well developed and well nourished (70 kg, 159 cm). Blood pressure was 100/60 mm Hg, and heart rate was 84 beats/min. She was anicteric, and there were no cutaneous stigmata of chronic liver disease. Cardiopulmonary examination was unremarkable. The abdomen was soft; no ascites was present. The liver measured 14 cm by percussion and was palpable with increased consistency 3 cm below the costal margin; the spleen was enlarged and palpable 4 cm below the left costal margin. Otherwise, physical examination was unremarkable.
Bilirubin was 12 pmol/L (0.7 mg/100 ml); AST and ALT were slightly increased, at 113 and 124 U/L, respectively (normal for both, <41). Levels of other enzymes and bile acids were markedly increased: alkaline phosphatase, 852 IU/L (normal, ~1 2 0 ) ; 5'nucleotidase, 132 IU/L (normal, < 18); y-glutamyltranspeptidase, 298 IU/L (normal, 8 to 45); and total serum bile acids, 48.4 pmoVL (RIA, normal, < 6). Total serum protein was 77.6 gm/L, with normal electrophoresis (albumin, 37 gm/L; normal, 32 to 51 gm/L). Prothrombin time was normal. Hemoglobin was 10 gm/L. WBC count was 5,200, with a normal distribution, and platelets were 64,00O/pl.