Clinical Presentation & Protocol
Patient Usually Complains Of
Patient presents with a history of chronic, intractable pruritus, jaundice, and failure to thrive. Onset of symptoms noted in early infancy/childhood. History significant for fat-soluble vitamin deficiencies, steatorrhea, and developmental delay. No history of biliary obstruction on imaging. Family history positive for cholestatic liver disease in siblings.
Clinical Examination Findings
Physical exam reveals significant jaundice, excoriations secondary to chronic pruritus, and hepatosplenomegaly. Abdominal examination shows no evidence of biliary dilatation. Growth parameters (weight/height) are below the 5th percentile. Skin assessment shows xanthomas in advanced cases. Scleral icterus present.
Treatment Protocol
Initiate Ursodeoxycholic acid (UDCA) therapy for bile flow stimulation. Supplementation with fat-soluble vitamins (A, D, E, K) is mandatory. Consider rifampicin or cholestyramine for pruritus management. Evaluate for surgical biliary diversion (nasobiliary or ileal) if medical management fails. Monitor liver function tests and serum bile acids regularly.