Obituary from Cincinnati Enquirer: James E. Heubi. “In lieu of flowers, memorial contributions may be made to the James Heubi Fund at Cincinnati Children’s Hospital Medical Center: http://www.cincinnatichildrens.org/donate. Please direct funds to “other” and type “James Heubi Fund.”

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This is the last of my lecture notes from this year’s Aspen Webinar 2021. This was a fantastic update by Dr. Balistreri highlighting the incredible advances in understanding the myriad of disorders which present as neonatal cholestasis.

This blog entry has abbreviated/summarized this presentation. Though not intentional, some important material is likely to have been omitted; in addition, transcription errors are possible as well.

Key points:

• Idiopathic neonatal hepatitis was attributed as diagnosis in ~65% of cases in 1970 but in 2021 accounts for ~10%
• A lot of new disorders identified which interfere with bile flow
• FXR helps prevent intrahepatic bile acid accumulation
• Genetic panels (~88 genes) quickly identify most disorders, but new disorders may be missed and need whole exome
• “Everybody deserves a diagnosis”

Related blog posts:

• Genetic Diagnostic Tools for Cholestasis 2021
• Online Aspen Webinar -Cholestasis in Infants (2020)
• Guideline Links: Infant Cholestasis and Esophageal Atresiaa-TEF
• Neonatal cholestasis for neonatologists
• New Way to Diagnose Biliary Atresia

Jessica Rutsky: Case Presentation

10 mo with jaundice and pruritus.  Labs note cholestasis (D bili 7.7), normal GGT, and mild elevation of transaminases. Unremarkable ultrasound. Liver biopsy showed nonspecific changes (cholestasis, no significant fibrosis). Genetic testing led to a diagnosis of PFIC. DDx: Obstruction, Infection, Toxic (drugs), Metabolic/Genetic including Alagille, PFIC

SAVE THE DATE for next year’s conference: July 11-15, 2022 in Snowmass Village, CO