The second Quality of Life ERN RARE-LIVER consensus meeting in Copenhagen

The second ERN RARE-LIVER Quality of Life (QoL) meeting began in Copenhagen on Friday 2 July. The meeting was held in a hybrid format with 11 on-site participants and additional online participants. The speakers were mainly from the Baltic Sea countries and we also welcomed participants from the United Kingdom and the Netherlands. There were both live and online talks on both days, followed by group discussions with the aim of capturing the most central issues raised and identifying potential future areas to elaborate upon, both clinically and scientifically. Many thanks to the organisers, Marianne Hørby, Henning Grønbæk and Henriette Ytting, and to all who participated.

The three main focus areas of Quality of life in the paediatric population were genetic cholestatic diseases, polycystic liver disease and autoimmune liver diseases. As a crosslink, there were presentations on the work of patient organizations and psychosocial science.

For children and adolescents, patient’s knowledge on QoL is scarce and also difficult to obtain, as assessments of QoL in small children are challenging for obvious reasons and the parents’ judgement is often less optimistic or positive than that of the child. Furthermore, adolescents most often want to be perceived as ‘normal’, i.e. healthy and they are not eager to address the fact that they have a chronic disease. Furthermore, they are not motivated to spend time on completing long questionnaires, so new methods of assessment are of great interest. Deidre Kelly (Birmingham) and Kirsten Boisen (Copenhagen) gave very fitting presentations covering these issues.

Genetic cholestatic diseases was presented by Henning Grønbæk (Aarhus) focusing not only on issues regarding the children with PFIC syndromes, but also on adults with genetic cholestatic liver diseases being carriers of disease-causing variants. Clinical geneticist Ida Vogel (Aarhus) further elaborated on genetics and genetic counselling and the issues regarding QoL which may affect families and pregnancy or family planning.

Natalie Uhlenbush (Hamburg) presented data on how to improve quality QoL for rare liver disease patients presenting data on prevention and treatment, and also showing that rare diseases impact quality of life more severely than “common” chronic diseases.

Thijs Bartens presented elaborative data on QoL in patients with polycystic liver disease and further discussed invasive treatment options.
Lone McColaugh (Leverforeningen Denmark) was the voice from patient organisations. She shared experiences about issues and concerns raised by parents and adolescents in patient organisations, and how the patient organisations try to meet these needs.

QoL in autoimmune liver diseases was presented by a trio made up of David Jones (Newcastle) covering PBC, Piotr Milkiewicz (Warsaw) covering AIH and Henriette Ytting (Hvidovre, Copenhagen) covering PSC – all focusing on QoL in each of the three diseases. The main conclusions were that a considerable proportion of these patients have impaired QoL and some have no ‘disease issues’ at all. We should thus focus on identifying the relevant patients using relevant measures and offer help and support. In addition, it is just as important to try to measure whether assessments and subsequent intervention actually improve the patients’ situation. Relevant and disease specific and generic questionnaires are available and validated in PBC. For the disease groups, relevant assessment tools have been identified to some extent and validation is ongoing.

During group discussions, several suggestions were raises. These will be further developed and hopefully implemented during future meetings.
Specific suggestions include:

1. Patient information – what is needed? There are already brochures and other written information materials and videos. The symposia group will plan a survey including both doctors and patients/parents to establish needs and to develop better information material. Video presentations with tests of patients’ experience and understanding of their disease before/after to optimize quality of information were suggested.

2. There is a need for data on QoL in the period from adolescence (12-14 years) to age 18, and also data until the age 20-22 years to disclose what is important in this transition period. Data on parents’ information is also very important. We suggest a study for adolescents which adapts the AIH questionnaires under evaluation to this age group and adapts the Hamburg intervention to teenagers (12 to 24 years of age). The transition working group will take the lead on this.

3. Social media should be explored further for dissemination and outreach especially to the younger generation. However, this raises complex questions on scope, benefits and disadvantages.

4. The role of physical training and QoL is a less investigated area and may be of special relevance in PBC patients. We suggest writing a position paper on a stepwise approach to fatigue in PBC patients with a long-term goal of gaining funding for an ERN RARE-LIVER trial. Henriette Ytting will discuss this with David Jones.

5. Communication in general – how is information of diagnosis presented and perceived, there is a need for more data: “May we harm the patients by over-information?”

6. Patient organisations will be asked to establish a focus group during patient meetings and discuss QoL to improve patient involvement. What are the differences between disease groups? Why are PSC patients often much more active than PBC patients? Should we compare disease groups in order to extract potential biological information explaining the differences?

7. ERN RARE-LIVER needs a tool to document quality of care and to document screening for QoL in centers, no specific solution was found.

8. How will the questions about QoL affect the patients (will we increase awareness/create symptoms (e.g. fatigue) because we are asking?)

9. Do focus groups have an effect on QoL? (questionnaire before and after a focus group)

The meeting was successful with several high-quality presentations and fruitful discussions summing up a number of unresolved questions to be further explored during the next meetings.

Thank you for your active participation and see you at the next meeting!!

Marianne Hørby, Henning Grønbæk and Henriette Ytting