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What are the indications for referring a patient with Alagille Syndrome to a specialist for further management?
Answer
Guideline-Aligned (High Confidence)
Generated by iatroX. Developer: Dr Kola Tytler MBBS CertHE MBA MRCGP (General Practitioner).
Last reviewed: 22 August 2025
Indications for referring a patient with Alagille syndrome to a specialist for further management include:
- Presence of significant liver disease manifestations such as cholestasis, pruritus, or signs of liver dysfunction requiring specialist hepatology or gastroenterology input.
- Complications related to cardiac abnormalities commonly associated with Alagille syndrome, necessitating cardiology specialist assessment.
- Signs of systemic involvement or multisystem complications, including renal, skeletal, or ocular abnormalities, which require multidisciplinary specialist evaluation.
- Any clinical features suggesting worsening or complex disease that cannot be managed in primary care, including failure to thrive or developmental concerns.
- Need for genetic counselling and family assessment due to the inherited nature of Alagille syndrome.
Referral should be made to a paediatrician or adult specialist with expertise in managing Alagille syndrome, often a paediatric hepatologist, gastroenterologist, or cardiologist, depending on the predominant clinical issues.
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