Liver disease presenting with cyanosis.

Accepted 25 November 1997 A 19-year-old woman was admitted to hospital for the evaluation of central cyanosis. She was complaining of fatigue, progressive dyspnoea, worsening in the upright position, and marked cyanosis of the lips and nail beds. She described a mild bleeding diathesis with epistaxis and prolonged menstrual bleeding during the last 6 months. She had no history of hepatitis, transfusion, alcohol abuse or drug ingestion. Physical examination revealed marked cyanosis of the lips and nail beds and digital clubbing with a few telangiectic vascular lesions on her face and shoulders. A grade 2/6 systolic ejection murmur in the pulmonary area and a systolic thrill and murmur all over the lung area was also present. Spleen was palpable 6 cm below the costal margin. The laboratory investigation showed leucopenia and thrombocytopenia, but normal liver chemistry except a prolonged prothrombin time: haemoglobin 15.7 g/dl, leucocytes 2.6 x 109/l, platelets 210 x 109/l, alanine transaminase 29 IU/l, aspartate transaminase 35 IU/l, lactate dehydrogenase 215 IU/l, y-glutamyl transpeptidase 25 IU/l, alkaline phosphatase 100 IU/l, conjugated bilirubin 5.8 ,umolIl, unconjugated bilirubin 17.1 ,imol/l, prothrombin time 20 s, partial thromboplastin time 48 s. Arterial blood gas analysis revealed orthodeoxia with P02 55.6 mmHg, pCO2 26.4 mmHg, 02 saturation 90.3% in the supine position, and pO2 45 mmHg, pCO2 24.3 mmHg, 02 saturation 85.8 % in the upright position. Chest X-ray, thoracic computed tomography, spirogram, closing volume and flow volume curve were all normal. Two-dimensional contrast echocardiography was performed (figure 1). The pulmonary angiogram was completely normal. The results of a pulmonary scintigram with 99mTc-macroaggregated albumin (MAA) are shown in figure 2. Antibodies to hepatitis A, B, and C viruses and HBV-DNA and HCV-RNA were negative. Serum al-antitrypsin level was normal. Abdominal ultrasound revealed a small, irregular, and markedly heterogenous liver with splenomegaly. There were second degree oesophageal varices on endoscopic examination. Liver biopsy revealed hepatoportal sclerosis.