Symptoms and impacts of familial chylomicronemia syndrome: a qualitative study of the patient experience

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• dc.contributor.author Williams, Kate
• dc.contributor.author Tickler, Georgina
• dc.contributor.author Valdivielso, Pedro
• dc.contributor.author Alonso Caballero, Jordi
• dc.contributor.author Vera-Llonch, Montserrat
• dc.contributor.author Cubells, Laia
• dc.contributor.author Acaster, Sarah
• dc.date.accessioned 2023-12-04T07:19:53Z
• dc.date.available 2023-12-04T07:19:53Z
• dc.date.issued 2023
• dc.description.abstract Background: Familial chylomicronemia syndrome (FCS) is a rare, hereditary, metabolic disorder. FCS causes high levels of triglycerides in the blood, which can lead to abdominal pain, xanthomas, and acute pancreatitis (AP). Volanesorsen, along with adherence to a very low-fat diet is used to reduce triglyceride levels in individuals with FCS. We aimed to understand the symptoms of FCS and their impact on health-related quality of life (HRQoL). Methods: Interviews were conducted with individuals with genetically confirmed FCS in the UK and Spain, some of whom had been treated with volanesorsen. Interview guides were developed with input from a patient advocacy group to explore the symptoms, impacts and management of FCS. Interviews were conducted by telephone and were recorded and transcribed. Data were analyzed using thematic analysis and saturation was recorded. Results: Seventeen interviews were conducted with individuals with FCS (aged 27-68 years), thirteen of whom were currently/previously treated with volanesorsen. Episodes of AP were the most impactful reported symptom, resulting in severe abdominal pain, nausea, vomiting, fever, bloating and appetite loss. Other symptoms and functional issues included abdominal pain, gastrointestinal symptoms, impaired cognitive function and fatigue. These had an impact on work, social activities, relationships and psychological wellbeing. These symptoms and impacts were illustrated in a conceptual model, including management strategies. The challenges of managing a low-fat diet and experience with volanesorsen were discussed. Conclusion: Individuals with FCS experience a range of interrelated symptoms and functional limitations which impact their broader HRQoL. Treatments which alleviate symptoms and reduce the incidence of AP episodes have the potential to improve the HRQoL of these individuals.
• dc.format.mimetype application/pdf
• dc.identifier.citation Williams K, Tickler G, Valdivielso P, Alonso J, Vera-Llonch M, Cubells L, Acaster S. Symptoms and impacts of familial chylomicronemia syndrome: a qualitative study of the patient experience. Orphanet J Rare Dis. 2023 Oct 11;18(1):316. DOI: 10.1186/s13023-023-02927-8
• dc.identifier.doi http://dx.doi.org/10.1186/s13023-023-02927-8
• dc.identifier.issn 1750-1172
• dc.identifier.uri http://hdl.handle.net/10230/58432
• dc.language.iso eng
• dc.publisher BioMed Central
• dc.relation.ispartof Orphanet J Rare Dis. 2023 Oct 11;18(1):316
• dc.rights © The Author(s) 2023. Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated in a credit line to the data.
• dc.rights.accessRights info:eu-repo/semantics/openAccess
• dc.rights.uri http://creativecommons.org/licenses/by/4.0/
• dc.subject.keyword Conceptual model
• dc.subject.keyword FCS
• dc.subject.keyword Familial chylomicronemia syndrome
• dc.subject.keyword Health-related quality of life
• dc.subject.keyword Qualitative
• dc.subject.keyword Symptoms
• dc.title Symptoms and impacts of familial chylomicronemia syndrome: a qualitative study of the patient experience
• dc.type info:eu-repo/semantics/article
• dc.type.version info:eu-repo/semantics/publishedVersion