Cholestasis Clinical Presentation

  • Author: Hisham Nazer, MB, BCh, FRCP, DCh, DTM&H; Chief Editor: Carmen Cuffari, MD   more...
 
Updated: Mar 9, 2010
 

History

Patients with cholestasis may present clinically in many different ways depending on the disease process.

  • In most cases, scleral icterus is noted before any other sign; it may be apparent at conjugated bilirubin levels as low as 2 mg/dL.
  • At higher levels of conjugated bilirubin, dark urine may be noted secondary to the filtering of bilirubin into the urine.
  • Cutaneous jaundice may not be noted until bilirubin levels reach 5 mg/dL or higher.
  • In patients with cholestasis, another common presentation is severe pruritus secondary to elevated bile acids.
    • At high concentrations (5 times the reference range), retained bile acids can cause maddening pruritus in which patients are unable to sleep or concentrate and may resort to cutaneous mutilation for relief.
    • Infants who are unable to scratch may become very irritable in response to the pruritus. In chronic cholestasis, cholesterol deposits called xanthomas may form in the skin. This may be a visible signal of severe cholestasis. Because of the poor bile flow in patients with cholestasis, they may also have inefficient digestion and absorption of dietary fats. These patients often demonstrate failure to thrive and have problems with fat-soluble vitamin deficiency and steatorrhea.
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Physical

As noted above, the physical signs of cholestasis are usually scleral icterus or cutaneous jaundice, or both. These patients may have physical evidence of scratching or excoriation if they also have severe bile acid retention.

  • Xanthomas look like small white papules or plaques and are usually found on the trunk and diaper area and in areas of friction (eg, diaper line, creases of hands, elbows, neck).
  • Another important physical finding in patients with cholestasis may be evidence of failure to thrive with altered anthropometrics, such as reduced height and reduced weight for height due to fat malabsorption.
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Causes

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Contributor Information and Disclosures
Author

Hisham Nazer, MB, BCh, FRCP, DCh, DTM&H  Professor of Pediatrics, Consultant in Pediatric Gastroenterology, Hepatology and Clinical Nutrition, Bushnaq Medical Centre, University of Jordan

Hisham Nazer, MB, BCh, FRCP, DCh, DTM&H is a member of the following medical societies: Royal College of Paediatrics and Child Health, Royal College of Physicians, Royal College of Surgeons in Ireland, Royal College of Surgeons of Edinburgh, and Royal Society of Tropical Medicine and Hygiene

Disclosure: Nothing to disclose.

Specialty Editor Board

Jayant Deodhar, MD  Associate Professor in Pediatrics, BJ Medical College, India; Honorary Consultant, Departments of Pediatrics and Neonatology, King Edward Memorial Hospital, India

Disclosure: Nothing to disclose.

Mary L Windle, PharmD  Adjunct Associate Professor, University of Nebraska Medical Center College of Pharmacy; Pharmacy Editor, eMedicine

Disclosure: Nothing to disclose.

Paul D Petry, DO, FACOP, FAAP  Consulting Staff, Freeman Pediatric Care, Freeman Health System

Paul D Petry, DO, FACOP, FAAP is a member of the following medical societies: American Academy of Osteopathy, American Academy of Pediatrics, American College of Osteopathic Pediatricians, and American Osteopathic Association

Disclosure: Nothing to disclose.

Chief Editor

Carmen Cuffari, MD  Associate Professor, Department of Pediatrics, Division of Gastroenterology/Nutrition, Johns Hopkins University School of Medicine

Carmen Cuffari, MD is a member of the following medical societies: American College of Gastroenterology, American Gastroenterological Association, North American Society for Pediatric Gastroenterology, Hepatology and Nutrition, and Royal College of Physicians and Surgeons of Canada

Disclosure: Nothing to disclose.

References

  1. Poddar U, Thapa BR, Das A, Bhattacharya A, Rao KN, Singh K. Neonatal cholestasis: differentiation of biliary atresia from neonatal hepatitis in a developing country. Acta Paediatr. May 13 2009;[Medline].

  2. Strople J, Lovell G, Heubi J. Prevalence of Subclinical Vitamin K Deficiency in Cholestatic Liver Disease. J Pediatr Gastroenterol Nutr. Jun 3 2009;[Medline].

  3. Hutchin T, Preece MA, Hendriksz C, et al. Neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) as a cause of liver disease in infants in the UK. J Inherit Metab Dis. Jun 11 2009;[Medline].

  4. Mathias A, Wax JR, Pinette MG, Cartin A, Blackstone J. Progressive familial intrahepatic cholestasis complicating pregnancy. J Matern Fetal Neonatal Med. Jun 1 2009;1-3. [Medline].

  5. Shneider BL. Liver transplantation for progressive familial intrahepatic cholestasis: the evolving role of genotyping. Liver Transpl. Jun 2009;15(6):565-6. [Medline].

  6. Brough AJ, Bernstein J. Conjugated hyperbilirubinemia in early infancy. A reassessment of liver biopsy. Hum Pathol. Sep 1974;5(5):507-16. [Medline].

  7. [Guideline] Murray KF, Carithers RL Jr. AASLD practice guidelines: Evaluation of the patient for liver transplantation. Hepatology. Jun 2005;41(6):1407-32. [Medline]. [Full Text].

  8. Balistreri WF. Neonatal cholestasis. J Pediatr. Feb 1985;106(2):171-84. [Medline].

  9. Davis AR, Rosenthal P, Newman TB. Nontransplant surgical interventions in progressive familial intrahepatic cholestasis. J Pediatr Surg. Apr 2009;44(4):821-7. [Medline].

  10. Davit-Spraul A, Gonzales E, Baussan C, Jacquemin E. Progressive familial intrahepatic cholestasis. Orphanet J Rare Dis. Jan 8 2009;4:1. [Medline].

  11. Elferink RP, Groen AK. The mechanism of biliary lipid secretion and its defects. Gastroenterol Clin North Am. Mar 1999;28(1):59-74, vi. [Medline].

  12. Festi D, Montagnani M, Azzaroli F, et al. Clinical efficacy and effectiveness of ursodeoxycholic acid in cholestatic liver diseases. Curr Clin Pharmacol. May 2007;2(2):155-77. [Medline].

  13. Haber B, Ferreira CT, Aw M, et al. Cholestasis: current issues and plan for the future. J Pediatr Gastroenterol Nutr. Aug 2008;47(2):220-4. [Medline].

  14. Jones EA, Bergasa NV. The pruritus of cholestasis and the opioid system. JAMA. Dec 16 1992;268(23):3359-62. [Medline].

  15. Kaufman SS, Murray ND, Wood RP. Nutritional support for the infant with extrahepatic biliary atresia. J Pediatr. May 1987;110(5):679-86. [Medline].

  16. Nightingale S, Ng VL. Optimizing nutritional management in children with chronic liver disease. Pediatr Clin North Am. Oct 2009;56(5):1161-83. [Medline].

  17. Oude Elferink RP, Paulusma CC, Groen AK. Hepatocanalicular transport defects: pathophysiologic mechanisms of rare diseases. Gastroenterology. Mar 2006;130(3):908-25. [Medline].

  18. Sabesin SM. Cholestatic lipoproteins--their pathogenesis and significance. Gastroenterology. Sep 1982;83(3):704-9. [Medline].

  19. Suchy FJ. Approach to the infant with cholestasis. In: Liver Disease in Children. 1st ed. St. Louis, Mo:. Mosby;1994:349-355.

  20. Suchy FJ. Neonatal cholestasis. Pediatr Rev. Nov 2004;25(11):388-96. [Medline].

  21. Trauner M, Meier PJ, Boyer JL. Molecular pathogenesis of cholestasis. N Engl J Med. Oct 22 1998;339(17):1217-27. [Medline].

  22. Tufano M, Nicastro E, Giliberti P, Vegnente A, Raimondi F, Iorio R. Cholestasis in neonatal intensive care unit: incidence, aetiology and management. Acta Paediatr. Nov 2009;98(11):1756-61. [Medline].

  23. Whitington PF. Chronic cholestasis of infancy. Pediatr Clin North Am. Feb 1996;43(1):1-26. [Medline].

  24. Whitington PF, Whitington GL. Partial external diversion of bile for the treatment of intractable pruritus associated with intrahepatic cholestasis. Gastroenterology. Jul 1988;95(1):130-6. [Medline].

 
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Eruptive xanthomas. Courtesy of Duke University Medical Center.
 
 
 
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