Spotting Neonatal Cholestasis Early: A Q&A With Dr. Pamela Valentino
August 3, 2022
Dr. Valentino is Medical Director of the Liver Transplantation Program, and Liver & Intestinal Failure Clinical Center Director. She joined Seattle Children’s in March 2022.
Q: What is neonatal cholestasis and why is early detection important?
Neonatal cholestasis is a condition that occurs in babies within the first few weeks of life where bile flow from the liver is disrupted. While neonatal jaundice is common, conjugated hyperbilirubinemia is infrequent but can indicate a severe underlying problem such as biliary atresia. A timely diagnosis helps us provide the surgical management that can prevent the need for liver transplantation. Unfortunately, we estimate that half or more of all babies in the PNW with cholestasis aren’t diagnosed in a timely manner.
Dr. Valentino: There are 2 things to look for, with either one of them being enough to warrant additional testing:
- Jaundiced skin or eyes (sclera) at 2 weeks of age or older in a healthy baby. If the baby is hospitalized for any reason, then jaundice at any age, including the first 2 weeks of life, is reason enough to do additional testing. It is harder to detect jaundice in babies with Black, Hispanic, or Asian skin tones AND there is a higher incidence of biliary atresia in this population. So, if you think they are jaundiced, don’t ignore what you see. Instead, err on the side of caution and do more testing. If a 2-week-old baby is sleeping during their doctor visit, please consider waking them up. It’s essential to get a good look at their sclera.
- Stool that is pale yellow or grey (acholic) instead of the normal color of bright mustard yellow. If in doubt, I recommend using the Infant Stool Color Card found here.
Babies with severe underlying conditions, such as biliary atresia, may appear completely healthy and growing appropriately at their 2-week well-child check!
Q: What if I suspect cholestasis or I identify a baby with persistent jaundice at 2 weeks of age?
Dr. Valentino: Order a blood test for fractionated bilirubin (total and direct or conjugated bilirubin). Direct or conjugated bilirubin of more than 1.0 mg/dL (17.1 μmol/L) is generally considered abnormal and should trigger a referral to a hepatologist.
To refer to Seattle Children’s, use the usual process. Hepatology will review your referral and schedule your patient promptly, usually within a few days. The Hepatology team also welcomes phone calls through our Provider-to-Provider Line (206-987-7777) to alert us that your referral is coming, discuss your patient, and initiate additional testing and management. You can ask for Hepatology or for the Liver Intestinal Failure Transplant (LIFT) attending on-call.
Q: How is neonatal cholestasis treated?
Dr. Valentino: How we treat it depends on the underlying cause. For many babies, the treatment will focus on nutrition therapy. If the cause is biliary atresia, prompt surgical management is required (a procedure called a Kasai portoenterostomy). Outcomes are best the sooner surgery is performed; surgery is most effective when performed under 30 days, and very effective when performed between 30 and 60 days of life. For infants ages 60+ days old, there is a significantly increased risk of mortality or the need for liver transplantation. This is the main reason that early detection is so important.
Resources
- Guidelines for the management of hyperbilirubinemia in the newborn infant. American Academy of Pediatrics Subcommittee on Hyperbilirubinemia. Management of hyperbilirubinemia in the newborn infant 35 or more weeks of gestation. Pediatrics. 2004 Jul;114(1):297-316. doi: 10.1542/peds.114.1.297. Erratum in: Pediatrics. 2004 Oct;114(4):1138. PMID: 15231951.
- Universal screening for biliary atresia using an infant stool color card in Taiwan – Hsiao – 2008 – Hepatology – Wiley Online Library. Hsiao CH, Chang MH, Chen HL, Lee HC, Wu TC, Lin CC, Yang YJ, Chen AC, Tiao MM, Lau BH, Chu CH, Lai MW; Taiwan Infant Stool Color Card Study Group. Universal screening for biliary atresia using an infant stool color card in Taiwan. Hepatology. 2008 Apr;47(4):1233-40. doi: 10.1002/hep.22182. PMID: 18306391.
- Seattle Children’s Hepatology: Referral to Gastroenterology and Hepatology