What are the long-term management strategies for patients with Alagille Syndrome to monitor liver and cardiac complications?

Long-term management strategies for patients with Alagille syndrome to monitor liver and cardiac complications include:

• Liver monitoring: Regular clinical assessment and liver function blood tests should be performed to detect liver dysfunction early. If abnormalities are found, liver ultrasound scans are recommended to assess liver structure and detect complications such as fibrosis or cirrhosis. Consideration of ursodeoxycholic acid treatment may be appropriate if liver function tests are abnormal, with ongoing monitoring to evaluate treatment response and potential discontinuation if liver tests normalize and imaging is stable. Referral to a liver specialist is advised if liver disease progresses, liver failure develops, or portal hypertension signs appear ².
• Cardiac monitoring: Although specific cardiac monitoring protocols for Alagille syndrome are not detailed in the provided UK guidelines, given the syndrome’s known association with congenital heart defects (e.g., pulmonary artery stenosis), regular cardiac evaluation by a cardiologist is essential. This typically includes echocardiography and clinical assessment to monitor for progression or complications of cardiac anomalies.
• Multidisciplinary care: Patients benefit from coordinated care involving hepatology, cardiology, and other relevant specialties to manage multisystem involvement effectively.
• Surveillance for liver complications: For patients with cirrhosis or advanced liver fibrosis, regular surveillance for complications such as hepatocellular carcinoma (HCC) with ultrasound every 6 months is recommended, alongside assessment for oesophageal varices via endoscopy as indicated ¹.