Progressive Familial Intrahepatic Cholestasis Clinical Presentation

Updated: Oct 04, 2021
  • Author: Andrew J Wehrman, MD; Chief Editor: Carmen Cuffari, MD  more...
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Presentation

History and Physical Examination

The following may be noted in the history and physical evaluation of a patient with progressive familial intrahepatic cholestasis (PFIC)

  • Pruritus, including scratching, cutaneous mutilation, irritability in infants, and/or attention deficit

  • Jaundice, such as scleral icterus and/or cutaneous jaundice

  • Dark urine

  • Malabsorption, which may include fat-soluble vitamin deficiency, steatorrhea, diarrhea, and/or failure to thrive

In addition to the above, physical examination of affected persons may also demonstrate the following findings:

  • Hepatomegaly

  • Splenomegaly

  • Altered anthropometrics

  • Reduced height

  • Reduced weight for height