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

Orphanet Journal of Rare Diseases

Research

Georgina Tickler¹  Sarah Acaster¹  Kate Williams¹  Laia Cubells²  Jordi Alonso³  Montserrat Vera-Llonch⁴  Pedro Valdivielso⁵ 

[1] Acaster Lloyd Consulting, London, UK;Akcea Therapeutics, Avenida Ernest Lluch, 32 TCM 2 of 6.18, 08302, Mataró, Barcelona, Spain;IMIM-Institut Hospital del Mar d’Investigacions Mèdiques, CIBERESP, Pompeu Fabra University, Barcelona, Spain;Ionis Pharmaceuticals, One Beacon Street, 02120, Boston, MA, USA;Servicio de Medicina Interna, Hospital Virgen de la Victoria, University of Málaga and Instituto de Investigaciones Biomédicas de Málaga (IBIMA), Málaga, Spain;

关键词: Familial chylomicronemia syndrome;    FCS;    Qualitative;    Symptoms;    Health-related quality of life;    Conceptual model;   

DOI  :  10.1186/s13023-023-02927-8

 received in 2023-03-14, accepted in 2023-09-24,  发布年份 2023

来源: Springer

【 摘 要 】

BackgroundFamilial 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).MethodsInterviews 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.ResultsSeventeen 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.ConclusionIndividuals 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.

【 授权许可】

CC BY   
© Institut National de la Santé et de la Recherche Médicale (INSERM) 2023

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Fig. 1