ESPGHAN Monothematic Conference: Familial Cholestasis

Application Deadline: 15.01.2017

Registration Fee

LATE FEE - Allied health professional and Trainees (100.00€)

LATE FEE - ESPGHAN Members (275.00€)

LATE FEE - Non ESPGHAN Members (375.00€)

ESPGHAN Monothematic conference


Dear colleagues,

It is our great pleasure to invite you to the ESPGHAN monothematic conference on Progressive Familial Intrahepatic Cholestasis (PFIC) in the beautiful city of Budapest.

PFIC is an expanding family of disorders, diagnosed on mutations in the genes encoding key proteins in hepatic and sometimes extra-hepatic physiology. The first described conditions have been labeled PFIC type 1, type 2 and type 3, based on defective functions of specific canalicular transport proteins. More recently, however, additional mutations in other genes have been identified, that are also responsible for clinical phenotype of progressive cholestasis. The identification of responsible genes has significantly increased our insights in hepatic and biliary physiology. On the other hand, these different disorders have led to many new clinical challenges regarding optimal diagnosis, treatments and evolution of the disease into adulthood. The mutation analysis can also detect adult patients with a clinical phenotype different from the one at paediatric age. Presently, many of the affected children develop end-stage liver disease and need liver transplantation in childhood Alternative therapies such as choleresis stimulation and partial biliary diversion have emerged, or are being developed - e.g. gene therapy.

The monothematic conference aims to provide an overview of the state-of-the-art knowledge of the pathophysiology of the classic and novel PFIC syndromes across the lifespan, their clinical aspects, present and emerging treatments, and to encourage collaboration between scientists and clinicians.

We look forward to seeing in Budapest!

Henkjan Verkade
Nedim Hadzic
Ronald Oude Elferink
Jörg Jahnel
Antal Dezsofi
Piotr Czubowski

Registration Fee: The registration fee covers the cost of accomodation, meals and social activities

Deadline for early fee: December 15th, 2016

Date: Jan 26 -28, 2017
Time slot:  Thursday ~15.00h – Saturday ~12.00h

Venue: Hotel President (
Location: Budapest, Hungary
Target audience: primarily clinicians (both junior and senior), enriched with basic scientists
Organizing Committee: Dino Hadzic, Henkjan Verkade, Jörg Jahnel, Ronald Oude Elferink (Amsterdam), Antal Dezsofi, Piotr Czubkowski
Please note that the attendance is limited due to reason of space. The registration can be closed early upon reaching the limit.

Deadline for abstracts: December 09th, 2016

Abstract Instructions

Case reports as well as original abstracts are welcome for submission.
Case reports will be considered by the organizing committee for oral presentations. Abstracts must have title, author(s) and institution(s) where the work was done and be written as per instructions below.

1.Abstracts must contain data and meet international ethical standards.
2.Abbreviations should be defined.
3.The abstract cannot contain more than 3,000 characters (approx.450
words) (including blank spaces, punctuation as well as authors affiliation and titles).
4.The original abstract must be structured into the following sections:
- Aims and Objectives
- Methods
- Results
- Conclusion
5.Case reports should be submitted as a short description of the case

Please send your abstract to until December 09th, 2016

Definition of a Trainee
Active clinical or laboratory based researcher working in paediatric hepatology, with less than 5 years training experience. Letter of support from an ESPGHAN member.

The Monothematic Conference: Familial Cholestasis, January 26.-28.2017, Budapest
is endorsed by EASL


Organizing Committee

Henkjan J. Verkade (Groningen)

Nedim Hadzic (London)

Jörg Jahnel (Graz)

Ronald Oude Elferink (Amsterdam)

Antal Dezsofi (Budapest)

Piotr Czubkowski (Warsaw)


Richard Thompson (London)

Alex Knisely (Graz)

Coen Paulusma (Amsterdam)
Verena Keitel-Anselmino (Düsseldorf)

Dominique Debray (Paris)

Ulrich Baumann (Hannover)

Catherine Williamson (London)

Emanuel Gonzales (Paris)

Bruno Stieger (Zürich)
Ekkehard Sturm (Tübbingen)
Piter Bosma (Amsterdam)

Amit Nathwani (London)

Irena Jankowska (Warsaw)


Day 1 - 26 Jan 2017, Thursday

15.00 - 15.10 - Welcome and Introduction

15.10 - 16.30 - Basic aspects

Chairperson: Henkjan J. Verkade, Antal Dezsofi

Bile flow in health and disease
    Ronald Oude Elferink (Amsterdam)

History and overview of PFIC syndrome
    Richard Thompson (London)

Animal models of PFIC
    Coen Paulusma (Amsterdam)

16.30 - 17.00 - Coffee break and poster walk

Poster presentation

Long-term outcome of the patient with PFIC1 after successful partial external biliary diversion (PEBD) in early childhood
   Alexandra Marach-Mocarska (Poland)

Clinical and Laboratory features in Children with Progressive Familial Intrahepatic Cholestasis in United Arab Emirates
   Amer Azaz, Mohamed Miqdady (Saudi Arabia)

Hungarian experience with progressive familial cholestasis (PFIC)
   Anna Fodor, Dolóresz Szabó, Zsuzsanna Vojnisek, László Szőnyi, Antal Dezsőfi (Hungary)

17.00 – 18.45 Physiology and pathophysiology of PFIC syndrome

Chairperson: Nedim Hadzic, Ekkehard Sturm

Histology and immunohistochemistry of PFIC syndromes
    Alex Knisely (Graz)

Genetic variations of main types and their significance (polymorphisms, etc.)
    Verena Keitel-Anselmino (Düsseldorf)

Other forms of familial cholestasis
    Dominique Debray (Paris)

Case report presentation
Genetic Profiling of Children with Cholestatic Liver Disease: Experience of a Large Pediatric Liver Transplant Center
    Mohammad Shagrani (Saudi Arabia)


Day 2 - 27 Jan 2017, Friday

8.30 – 10.15 - Clinical aspects I (Management and complications)
Chairperson: Ulrich Baumann, Jörg Jahnel

The mechanism of cholestatic pruritus
    Ronald Oude Elferink (Amsterdam)

Medical treatments
    Henkjan J. Verkade (Groningen)

Surgical non-transplant options (biliary diversions, nasobiliary drainage)
    Irena Jankowska (Warsaw)

Case report presentation
Long-term Outcomes of Six Patients After Partial External Biliary Diversion for Progressive Familial Intrahepatic Cholestasis
     Özlem Durmaz (Turkey)

10.15 - 10.45 - Coffee break and poster walk

Poster presentation

Outcome of Children with PFIC After Living Donor Liver Transplantation.
    Cigdem Arikan (Turkey)

Hepatocarcinoma in a child with PFIC 2: an unlucky complication.
     Frederica Ferrari (Italy)

Familial Cholestasis Differential; Case Report of Biliary Atresia in a 1 Year Old in Uganda
   Gerald Wanjala (Uganda)

Case report: 7-years old boy with BSEP deficiency
   Jernej Brecelj (Slovenia)

10.45 – 12.30 – Clinical aspects II
Chairperson: Dominique Debray, Piotr Czubkowski

Extrahepatic features of PFIC
   Nedim Hadzic (London)

LTx in PFIC; whom and when to transplant?
    Ulrich Baumann (Hannover)

Recurrent disease after LT for PFIC 1 and 2
    Richard Thompson (London)

 Case report presentation
Genetic variations underlying progressive familial intrahepatic cholestasis (PFIC) in the Indian population
    Rakesh Aggarwal (India)

12:30 - 13.30 - Lunch break and poster walk

13.30 – 15.15 - Clinical aspects II (PFIC beyond paediatric hepatology)
Chairperson: Richard Thompson, Irena Jankowska

PFIC, oral contraceptives and pregnancy

    Catherine Williamson (London)

Atypical presentations of PFIC at pediatric and adult age: MDR3 def, BRIC, gallstones and others
    Emanuel Gonzales (Paris)

Malignancies in PFIC
    Alex Knisely (Graz)

Drug toxicity and PFIC. Which and why ?
    Bruno Stieger (Zürich)

Case report presentation
Predicting development of hepatocellular carcinoma among patients with progressive familial intrahepatic cholestasis type 2
   Tanguy Demaret (Belgium)

20.30 -                DINNER AT THE HOTEL PRESIDENT

Day 3 - 28 Jan 2017, Saturday

9.00 – 11.30 - PFIC and personalised medicine

Chairperson: Alex Knisely, Ronald Oude Elferink

History of gene therapy: ups and downs!
Piter Bosma (Amsterdam)

Developments in liver-directed gene therapy
    Amit Nathwani (London)

New medical options (FXR agonists/norUDCA/ASBT inhibition)
    Ekkehard Sturm (Tübbingen)

10.15 - 10.30 - COFFEE BREAK

Case report presentation
Two siblings with TJP2 Mutations
    Christina Goncalves (Portugal)

Emerging therapies (molecular chaperons, hepatocyte transplantation)
    Emanuel Gonzales (Paris)

Ideas for collaboration, networks (ERN) and further research
    Ekkehard Sturm (Tübbingen)

Conclusions and closure

11.450 -12.45 Lunch and farewell

ESPGHAN Monothematic Conference: Familial Cholestasis 2017 Budapest, Hungary (26-28 January 2017) has been accredited by the European Accreditation Council for
Continuing Medical Education (EACCME) to provide the following CME
activity for medical specialists. Monothematic Conference: Familial Cholestasis 2017
is designated for a maximum of, or up to 11 European CME credits (ECMEC).

 We thank our EPP Partners for their support:

For more information on our Education Partner Programme please click on the logos below.