Diagnostic Workup


History/Physical
















The history and physical exam, as mentioned, are extremely important in the diagnosis of cholestasis. Some diagnostic clues in the history include:


  • Family history of prolonged jaundice - Alagille, cystic fibrosis, alpha-1-antitrypsin, PFIC
  • Cholestasis of pregnancy in the mother - PFIC
  • Maternal infection - TORCH
  • Abnormal fetal ultrasound - choledochal cyst or bowel duplication
  • SGA - TORCH
  • Hemolytic disease of the newborn - inspissated bile syndrome
  • Vomiting - metabolic disorders, bowel obstruction, sepsis
  • Nutritional source
    - galactose/lactose containing - galactosemia
    - fructose/sucrose containing - fructose intolerance
  • CNS
    - irritability - metabolic disorder, sepsis
    - lethargy - hypothyroid, hypopit, sepsis


Diagnostic clues in the physical exam include:


  • Dysmorphic facies - Alagille
  • Congenital heart disease - Alagille, embryonic biliary atresia
  • Petechiae, rashes - TORCH
  • Fundoscopy
    - cataracts - TORCH, galactosemia
    - embryotoxon - Alagille
    - chorioretinitis - TORCH


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