Genetic Liver Disease: A New Perspective

Saturday, April 29, 2023

8:00 AM – 9:30 AM ET

Location: Convention Center: 209 A

CE: Live CME: 1.50

Selected By: ASPR

Chair(s)

Kazuhiko Bessho, MD, PhD (he/him/his)

Professor
Jikei University of Health Care Sciences
Osaka, Osaka, Japan
Ronald Sokol, MD (he/him/his)

Professor and Chief Scientific Officer, Child Health
Children's Hospital Colorado
Aurora, Colorado, United States

Disclosure(s):

Kazuhiko Bessho, MD, PhD: No financial relationships to disclose

Ronald J. Sokol, MD: Albireo Pharma: Advisory Committee (Ongoing); Mirum Pharma: Advisory Committee (Ongoing)

Session

Description: In recent years, remarkable progress has been made in the field of genetic liver diseases, and the causative genes have been identified one after another. In this symposium, we will review the progress in diagnosis and management of the inborn errors of bile acid metabolism (IEBAM) and inherited cholestatic liver diseases such as progressive familial intrahepatic cholestasis (PFIC). Bile acids (BA) are synthesized by the liver from cholesterol through a complex series of reactions involving at least 14 enzymatic steps. In IEBAM, one of these steps in BA synthesis is impaired, resulting in failure to produce normal BA and inhibition of BA production, which in turn results in accumulation of abnormal BA and intermediate metabolites. accumulation occurs. Failure to synthesize BA results in decreased bile flow and decreased intraluminal solubilization of fats and fat-soluble vitamins, and the intermediates created because of blockade in the BA biosynthetic pathway may be toxic to hepatocytes. PFIC, on the other hand, is an ever-increasing group of diseases. Genetics has helped unravel the disease mechanisms, and we can better understand the spectra of phenotypes associated with mutations in each gene. Different responses to medical and surgical management, based on genetic etiology and molecular mechanisms, are becoming apparent. We will share the results of panel genetic testing for infantile cholestasis in USA and Asian countries, discuss the next approach when panel genetic testing fails to provide a diagnosis and promote future collaborative clinical research between USA and Asian countries.

Learning Objectives:

Upon completion, participants will be able to understand the recent advances in the diagnosis and treatment of inborn errors of bile acid metabolism.
Upon completion, participants will be able to understand the recent advances in the diagnosis and treatment of inherited cholestatic liver diseases.
Upon completion, participants will be able to understand the etiologies of pediatric liver diseases in USA and Asian countries, novel infantile cholestatic diseases.

Presentations:

8:00 AM – 8:20 AM ET

Recent Advances in the Inborn Errors of Bile Acid Metabolism.
Speaker: Aki Asai, MD, PhD (he/him/his) – Cincinnati Children's Hospital Medical Center
8:20 AM – 8:40 AM ET

Recent Advances in the Diagnosis and Treatment of Inherited Cholestatic Liver Diseases.
Speaker: Huey-Ling Chen, MD. PhD. – National Taiwan University
8:40 AM – 8:55 AM ET

Use of a Comprehensive 61-Gene Cholestasis Sequencing Panel Cholestatic Infants, Children in Japan and Southeast Asia.
Speaker: Kazuo Imagawa, MD, PhD – University of Tsukuba
8:55 AM – 9:05 AM ET

Biallelic Mutations in the LSR Gene Cause a Novel Type of Infantile Intrahepatic Cholestasis.
Speaker: Shuichiro Umetsu, MD – Saiseikai Yokohama-shi Tobu Hopital
9:05 AM – 9:20 AM ET

Use of a Comprehensive 66-Gene Cholestasis Sequencing Panel in 2171 Cholestatic Infants, Children, and Young Adults.
Speaker: Saul J. Karpen, MD PhD FAASLD – Emory University School of Medicine