EASL DeepDive: Utility and challenges of genetic testing in PFIC

Liver disease represents a major and under-recognised public health challenge across Africa, driven by a complex interplay of viral hepatitis, rising metabolic dysfunction-associated steatotic liver disease, and a high burden of hepatocellular carcinoma (HCC). Despite this, awareness, surveillance, and access to care remain limited. In this podcast, we explore the evolving epidemiology of liver disease across the continent, highlighting key drivers, regional variations, and gaps in diagnosis and treatment. Why does the burden remain so under-recognised, and what are the priorities for prevention, early detection, and equitable care in Africa?Host: Debbie Shawcross (King's College London) Guests: Kwame Asomoah (University of Ghana Business School) and Wendy Spearman (University of Cape Town) This episode is also available on EASL Campus: https://easlcampus.eu/tltm/episode-17Thank you to our healthcare industry partners for their support. For more information, please visit EASLCampus.eu.This programme is intended for health care professionals only and is provided for educational purposes. EASL does not endorse or promote any medicinal products or medical devices. The views and opinions expressed are those of the speakers and do not necessarily reflect those of EASL. All declarations of conflicts of interest are listed on EASL Campus (https://easlcampus.eu/tltm/episode-17).EASL is not responsible for the accuracy of any translated versions of this podcast or of subtitles generated automatically by artificial intelligence.

This webinar explores the role of genetic testing in diagnosing Progressive Familial Intrahepatic Cholestasis (PFIC). Attendees will review key test types, understand the principles behind modern genomic technologies, and learn how to position these tests in the diagnostic approach of a person with a suspicion of PFIC and how to navigate common challenges in interpreting genetic results. The session will also highlight emerging trends shaping the future of genetic diagnostics in hepatology. Learning objectives Understand the genetic drivers of PFIC and the utility of their testing. Describe basic principles behind modern diagnostic genetic testing relevant to hepatology. Appropriately position genetic testing in the approach of a person suspected to have PFIC. Recognize common challenges in interpreting these genetic findings and linking them with the clinical presentation. Outline emerging trends influencing the future of genetic diagnostics in hepatologyThis webinar has received educational grants from IPSEN. IPSEN has had no input into the programme, content, or faculty selection.

Acute liver failure (ALF) is a rare but life-threatening condition requiring rapid recognition and decisive management. Early decisions around investigation, escalation, and referral can significantly impact outcomes. Despite advances in care, variation in practice and avoidable pitfalls remain common. In this podcast, we take a practical, case-based approach to the key “dos and don’ts” in ALF management, focusing on early diagnosis, initial stabilisation, appropriate investigations, and timely referral to specialist centres. What should clinicians prioritise, what should be avoided, and how can we optimise care in the critical early stages of acute liver failure?Host: Mattias Mandorfer (Medical University of Vienna) Guests: William Bernal (King's College London), Nigel Heaton (King's College London) This episode is also available on EASL Campus: https://easlcampus.eu/tltm/episode-16Thank you to our healthcare industry partners for their support. For more information, please visit EASLCampus.eu.This programme is intended for health care professionals only and is provided for educational purposes. EASL does not endorse or promote any medicinal products or medical devices. The views and opinions expressed are those of the speakers and do not necessarily reflect those of EASL. All declarations of conflicts of interest are listed on EASL Campus (https://easlcampus.eu/tltm/episode-16).EASL is not responsible for the accuracy of any translated versions of this podcast or of subtitles generated automatically by artificial intelligence.

Endohepatology is emerging as a novel approach to liver disease assessment, with the potential to combine EUS-guided liver biopsy, portal pressure measurement, and variceal evaluation within a single session. This “one-stop shop” model could streamline diagnostic pathways and enable integrated, real-time clinical decision-making. However, this innovation comes at a time when hepatology is moving increasingly towards non-invasive testing strategies. Questions therefore remain around its appropriateness, clinical utility, and feasibility in routine practice. In this podcast, we explore whether this approach represents meaningful progress or premature adoption, examining current evidence, potential benefits, and practical challenges. This episode is produced in collaboration with the European Society of Gastrointestinal Endoscopy (ESGE).Host:  Tom Marjot (King's College London) Guests:  Juan Abraldes (University of Alberta), Hannah van Malenstein (University Hospital Leuven) This episode is also available on EASL Campus: https://easlcampus.eu/tltm/episode-15Thank you to our healthcare industry partners for their support. For more information, please visit EASLCampus.eu.This programme is intended for health care professionals only and is provided for educational purposes. EASL does not endorse or promote any medicinal products or medical devices. The views and opinions expressed are those of the speakers and do not necessarily reflect those of EASL. All declarations of conflicts of interest are listed on EASL Campus (https://easlcampus.eu/tltm/episode-15).EASL is not responsible for the accuracy of any translated versions of this podcast or of subtitles generated automatically by artificial intelligence.

Early-career researchers and clinician-scientists play a central role in advancing hepatology research and innovation, yet the transition to independence often comes with challenges that extend beyond scientific expertise. Building a research programme, leading teams, securing funding, and developing a sustainable academic career require skills that are rarely addressed during formal training. In this podcast, we explore the realities of early academic leadership, focusing on the practical and professional challenges faced during the first years of research independence. Host: Carolin Schneider (RWTH Aachen University) Guests: Pierre-Emmanuel Rautou (Hôpital Beaujon, APHP & Université Paris Cité), Mathias Heikenwälder (University of Tübingen)This episode is also available on EASL Campus: https://easlcampus.eu/tltm/episode-14Thank you to our healthcare industry partners for their support. For more information, please visit EASLCampus.eu.This programme is intended for health care professionals only and is provided for educational purposes. EASL does not endorse or promote any medicinal products or medical devices. The views and opinions expressed are those of the speakers and do not necessarily reflect those of EASL. All declarations of conflicts of interest are listed on EASL Campus (https://easlcampus.eu/tltm/episode-14).EASL is not responsible for the accuracy of any translated versions of this podcast or of subtitles generated automatically by artificial intelligence.

Hepatitis E is a globally prevalent infection with diverse clinical manifestations, ranging from self-limiting acute hepatitis to chronic infection in immunosuppressed patients. Its presentation and epidemiology vary significantly between regions, influencing diagnostic and management strategies. Despite increasing recognition, uncertainty remains around who to test, when to treat, and how to manage chronic disease effectively. In this podcast, we bring together perspectives from Europe and Asia to explore key differences in clinical practice, emerging evidence, and practical approaches to care. Host: Thomas Marjot (Kings College London)Guests: Tobias Böttler (Universitätsklinikum Freiburg), Siddharth Sridhar (University of Hong Kong)This episode is also available on EASL Campus: https://easlcampus.eu/tltm/episode-13Thank you to our healthcare industry partners for their support. For more information, please visit EASLCampus.eu.This programme is intended for health care professionals only and is provided for educational purposes. EASL does not endorse or promote any medicinal products or medical devices. The views and opinions expressed are those of the speakers and do not necessarily reflect those of EASL. All declarations of conflicts of interest are listed on EASL Campus (https://easlcampus.eu/tltm/episode-13).EASL is not responsible for the accuracy of any translated versions of this podcast or of subtitles generated automatically by artificial intelligence.

Metabolic dysfunction-associated steatotic liver disease (MASLD) and heart failure with preserved ejection fraction (HFpEF) are increasingly recognised as manifestations of a shared cardiometabolic disorder. Driven by overlapping risk factors such as obesity and insulin resistance, these conditions frequently coexist and may interact through liver–heart crosstalk. Despite this, they are typically managed separately, with limited disease-specific therapies and suboptimal outcomes. In this podcast, we explore whether a more integrated approach could improve diagnosis, risk stratification, and treatment. Host: Cyrielle Caussy (Lyon 1 University and Hospices Civils de Lyon)Guests: Zannad Faiez (University of Lorraine, Nancy), Pinelopi Manousou (Imperial College London)This episode is also available on EASL Campus: https://easlcampus.eu/tltm/episode-12Talk Liver To Me is supported by Opella. Opella has had no input to the content of this programme.This programme is intended for health care professionals only and is provided for educational purposes. EASL does not endorse or promote any medicinal products or medical devices. The views and opinions expressed are those of the speakers and do not necessarily reflect those of EASL. All declarations of conflicts of interest are listed on EASL Campus (https://easlcampus.eu/tltm/episode-12).EASL is not responsible for the accuracy of any translated versions of this podcast or of subtitles generated automatically by artificial intelligence.

The following objectives will be addressed in this EASL Deep Dive episode:Have a profound knowledge of the pitfalls, limitations and difficulty of interpretation of the different tests of copper metabolism and liver copper assessmentsBe able to establish a diagnostic approach to Wilson’s disease, integrating clinical, laboratory, genetic and imaging toolsHave a good understanding of the different treatment modalities, how to position them in the disease course, how to monitor treatment and what to expect as a result/outcome?This EASL DeepDive webinar is supported by Orphalan and Univar Solutions. Orphalan and Univar Solutions have had no input into the content of this EASL DeepDive.

Steatotic liver disease (SLD) research relies heavily on preclinical models, yet no single model can fully capture the complexity of human disease. In this episode, we explore the new EASL position paper on preclinical SLD models. From MASLD and MetALD to organoids and precision-cut liver slices, we discuss the strengths, limitations, and translational relevance of today's most widely used models. How do we choose the right model, and are we any closer to finding the perfect one?Based on EASL position paper on preclinical models of steatotic liver diseaseHost: Rui Castro (University of Lisbon)  Speakers: Mathias Heikenwälder (University of Tübingen) and Suchira Gallage (University of Tübingen)This episode is also available on EASL Campus: https://easlcampus.eu/tltm/episode-11This programme is intended for health care professionals only and is provided for educational purposes. EASL does not endorse or promote any medicinal products or medical devices. The views and opinions expressed are those of the speakers and do not necessarily reflect those of EASL. All declarations of conflicts of interest are listed on EASL Campus (https://easlcampus.eu/tltm/episode-11).EASL is not responsible for the accuracy of any translated versions of this podcast or of subtitles generated automatically by artificial intelligence.

Haemochromatosis remains one of the most common inherited metabolic disorders, yet it is frequently underdiagnosed and inconsistently managed in clinical practice. With widespread use of iron studies and genetic testing, clinicians are increasingly faced with questions around interpretation, penetrance, and clinical significance. In this podcast, we explore current challenges in diagnosis and management, focusing on who should be tested, how to interpret results, and which patients benefit from intervention in modern hepatology practice. Host: Thomas Marjot (King's College, London)Speakers: John Ryan (Beaumont Hospital, Dublin) and Heinz Zoller (Medical University of Innsbruck)This episode is also available on EASL Campus: https://easlcampus.eu/tltm/episode-10