Chronic liver disease, cirrhosis and portal hypertension: Case

This boy presents the complex picture of decompensated chronic liver disease with portal hypertension and probable hepatopulmonary syndrome. The history of biliary atresia with a Kasai portoenterostomy marks him as a child at high risk for progressive fibrosis, and his current findings indicate that the disease has advanced significantly. The growth faltering, splenomegaly with thrombocytopenia, hypoalbuminaemia, coagulopathy, and ascites together paint the picture of decompensated cirrhosis, while the digital clubbing, cyanosis, exertional dyspnoea, and orthodeoxia strongly suggest hepatopulmonary syndrome. [1]

Clinical findings

The clinical picture is that of advanced portal hypertension with decompensated cirrhosis and a pulmonary complication. The markedly enlarged spleen with a platelet count of 62,000 per cubic millimetre indicates clinically significant portal hypertension with hypersplenism. The hypoalbuminaemia and INR of 1.7 reflect impaired hepatic synthetic function, and the ascites with shifting dullness confirms decompensation. The growth faltering from the 25th to the 3rd centile is a major concern and itself worsens the PELD score and transplant priority. [1]

The respiratory findings demand attention. The digital clubbing and central cyanosis are physical signs of chronic hypoxaemia, and the oxygen saturation of 88 per cent on room air falling to 82 per cent on standing is the classic orthodeoxia of hepatopulmonary syndrome. The exertional dyspnoea described by the mother is platypnoea in its clinical manifestation. Together these findings fulfil two of the three criteria for hepatopulmonary syndrome: chronic liver disease and arterial deoxygenation. The third criterion, intrapulmonary vascular dilatation, must be confirmed by contrast echocardiography or a technetium-99m macroaggregated albumin brain uptake scan. [2]

Investigations and diagnosis

The diagnostic workup proceeds in parallel. Upper gastrointestinal endoscopy is performed to characterise the varices and assess the need for primary prophylaxis, given the clinically significant portal hypertension. Abdominal ultrasound with Doppler assesses liver architecture, portal vein patency, splenomegaly, and the presence of collaterals. A diagnostic paracentesis is performed to exclude spontaneous bacterial peritonitis and to calculate the serum-ascites albumin gradient, which should be 11 g per litre or more confirming cirrhotic ascites. [1]

The hepatopulmonary syndrome workup requires contrast echocardiography, in which agitated saline is injected intravenously and the appearance of microbubbles in the left atrium within 3 to 6 cardiac cycles confirms intrapulmonary shunting. Arterial blood gas analysis on room air and on 100 per cent oxygen documents the severity of the hypoxaemia and helps calculate the shunt fraction. A PaO2 under 60 mmHg would define severe hepatopulmonary syndrome and confer additional transplant priority in many allocation systems. [2]

The PELD score is calculated to estimate three-month mortality and prioritise transplant listing. It incorporates the total bilirubin, INR, serum albumin, age at listing, and growth failure. This boy's elevated bilirubin, prolonged INR, low albumin, young age, and significant growth faltering will produce a high score reflecting a high risk of mortality without transplantation. [3]

Management and outcome

Management is multifaceted and urgent. The portal hypertension is addressed with primary prophylaxis, using either propranolol at 1 to 2 mg per kg per day titrated to reduce the resting heart rate by approximately 25 per cent, or serial endoscopic variceal ligation, depending on the endoscopic findings and centre preference. The ascites is managed with dietary sodium restriction and diuretics, starting with spironolactone at 1 to 3 mg per kg per day and adding furosemide at 0.5 to 1 mg per kg per day if needed. Nutritional support with fat-soluble vitamin supplementation and a high-calorie, high-protein diet is essential to address the growth faltering. [1]

The hepatopulmonary syndrome is managed with supplemental oxygen as needed for symptomatic relief, but the definitive treatment is liver transplantation. The ILTS guidelines recognise hepatopulmonary syndrome as an independent indication for transplantation, and a PaO2 under 60 mmHg confers additional priority because it predicts worse survival without transplant. The key teaching point is that hepatopulmonary syndrome may resolve completely after successful transplantation, making it one of the few complications that transplantation cures. [2]

This boy should be listed for liver transplantation based on his PELD score, with additional priority for severe hepatopulmonary syndrome if confirmed. The family is counselled honestly about the chronicity of the disease, the need for transplantation, and the favourable post-transplant outlook for both the liver disease and the hepatopulmonary syndrome. Long-term management involves immunosuppression, growth monitoring, adherence support, and structured transition to adult care in adolescence. [3]