Late-onset genetic cholestasis encompasses a group of rare, inherited liver disorders, including conditions such as progressive familial intrahepatic cholestasis (PFIC) and Alagille syndrome. These conditions are often under-recognized, leading to delayed or missed diagnoses. Existing resources primarily focus on pediatric cases, leaving gaps in awareness about the less severe and varied symptoms that can appear into adulthood.
This expert-led program will allow you to effectively recognize and diagnose late-onset genetic cholestasis and its associated conditions, and make informed decisions on individualized patient management strategies, by providing education on disease presentation, the importance of genetic testing, symptom management, clinical guidelines, and new advances in the treatment landscape.
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Learning objectives
Following completion of this independent educational program, you will be able to:
- Recognize the different phenotypes and clinical presentations of late-onset genetic cholestasis
- Integrate consensus recommendations and diagnostic tools to accurately diagnose different types of late-onset genetic cholestasis
- Debate best practice for the current and potential future management of different forms of late-onset genetic cholestasis
- Analyze recent diagnostic and therapeutic advances in late-onset genetic cholestasis and Alagille syndrome, and their relevance to clinical practice
Meet the faculty
Richard Thompson
Professor of Molecular Hepatology, Kings College London, United Kingdom
Dr Thompson specialises in paediatric liver disease. In particular he is interested in genetic disease, both in children and adults. His group have identified several disease genes, and have established important genotype/pehotype correlations. He is also the Clinical Lead for the Liver Molecular Genetics service.Disclosures
Honoraria or consultation fees: CymaBay, Enanta, Genfit, GSK, Gilead, HighTide, Inipharm, Intercept, Ipsen, Madrigal, Mirum, NGM, Pfizer, 89bio, Zydus, Abbvie, Intercept, Gilead Honoraria or consultation fees: Mirum, Ipsen, Rectify, Generation Bio, Integra, Spruce, Alnylam, Glycomine Stocks, shares or equity: Generation Bio, Rectify, Integra
Verena Keitel-Anselmino
Department of Gastroenterology, Hepatology, and Infectious Diseases
Medical Faculty of Otto von Guericke University Magdeburg, German
Verena Keitel-Anselmino received her training in gastroenterology and hepatology at Dusseldorf University Hospital. Since September 2021 she has been the head of the Department of Gastroenterology, Hepatology and Infectious Diseases at Magdeburg University Hospital. Her clinical and research interests lie in the field of autoimmune and cholestatic liver diseases with a special emphasis on hereditary cholestasis.Disclosures
Honoraria or consultation fees: Mirum, GSK, Albireo/Ipsen, Falk, AstraZenecaStocks, shares or equity: Madrigal
Participation in a company sponsored speaker bureau: Falk, AstraZeneca, Ipsen, Mirum, Albireo, GSK, Gilead, MSD
Silvia Vilarinho
Yale University, USA
Silvia Vilarinho is a physician-scientists with an overarching career goal to bridge patient care to disease-relevant research. Nearly all studies in her laboratory begin with patients with liver disease of unclear etiology. She utilizes human genetics and genomics to investigate the molecular mechanism(s) underlying liver disease in these patients with potential diagnostic, therapeutic and prognostic applications. Her research group uses cell-based and mouse models to determine the specific mechanism(s) linking mutant gene to disease. This research approach provides new knowledge with direct impact in improving patient care and creates an outstanding scientific environment to train future physician-scientists and trainees with particular interest in human disease. Furthermore, Silvia is very committed to make ‘genomic medicine for liver disease’ a reality in clinical practice worldwide.Disclosures
Honoraria or consultation fees: Alberio, Ipsen, Mirum Grants/research support: Moderna
Deepak Joshi
Kings College Hospital NHS Foundation Trust, United Kingdom
Dr Deepak Joshi is a transplant hepatologist with an interest in autoimmune liver disease. He is the clinical lead for HPB medicine and an advanced biliary endoscopist, specialising in paediatrics. He is a member of the Young Adult Liver service at King’s working in a multi-disciplinary team. He is a Reader in HPB medicine at King’s College London. He is a co-author of the book, Hepatology at a Glance. His current research interests include the management of biliary disease pre- and post-liver transplantation including the role of endoscopy.Disclosures
Honoraria or consultation fees: Ipsen Pharma, Mirum, Boston Scientific, Q3 Medical
Rosa Miquel
Consultant in Liver Histopathology
King’s College Hosptial, United Kingdom
Dr Rosa Miquel is a Consultant Histopathologist specialized in hepato-biliary pathology, working in King's College Hospital since 2014. She moved from Hospital Clinic, University of Barcelona where she was formed and worked as general histopathologist with Liver specialisation, and Assistant Professor of Pathology. Concerning Adult Genetic Cholestasis, as a reference pathologist for the topic, she works in close collaboration with the clinical hepatology team as member of the recently created Adult Genetic Cholestasis multidisciplinary team. She is co-author of several publications related to the subject.
Disclosures
Consultant scientific advisor: Arbormed
Dr Mitchell Shiffman
Dr Shiffman has published over 300 original articles in peer reviewed medical journals or as invited reviews. He has edited 3 textbooks on liver disease and was a guest editor for 2 volumes of Clinics in Liver Disease. He was a member of the Board of Trustees of the American College of Gastroenterology from 2003-2009. He is a Master of the American College of Gastroenterology and a Fellow of the American Association for the Study of Liver Disease.
Disclosures
To be confirmed.
Jeremy Shanika Nayagam
Kings College Hospital NHS Foundation Trust, United Kingdom
Dr Jeremy Shanika Nayagam is a Hepatology Consultant at the Institute of Liver Studies at King’s College Hospital. He has clinical and research subspecialty interests in autoimmune and cholestatic liver diseases, including the genetic contribution to liver diseases. He is the lead for the Adult Cholestasis Genetics Multidisciplinary Meetings in the United Kingdom.Disclosures
Honoraria or consultation fees: IpsenParticipation in a company sponsored speaker bureau: Ipsen, Dr Falk Pharma
Carola Dröge
University Hospital Magdeburg, Germany
Department of Gastroenterology, Hepatology, and Infectious Diseases
Medical Faculty of Otto von Guericke University Magdeburg, German
Carola Dröge is a biologist by training and started dealing with hereditary cholestasis since my first day of my PhD thesis in Düsseldorf, Germany. Her expertise is the contribution to a genotype phenotype correlation in hereditary cholestasis syndromes. Her current position is a Junior professor for hereditary cholestasis syndromes in Magdeburg, Germany.Disclosures
Honoraria or consultation fees: Falk, MirumTarget audience
This program is primarily aimed at a global audience of adult hepatologists and gastroenterologists, but is relevant to all members of the multidisciplinary team that manages late-onset genetic cholestatic patients.
Planning committee
In addition to the expert faculty Springer Health+ IME planners and staff include Rachel Goddard, Rebecca Cox, Alexandros Marantzidis, Lucy Piper, and Lynda Williams. The planning committee have no financial relationships to disclose.
All relevant financial relationships of the faculty have been mitigated.