Symptoms and impacts of familial chylomicronemia syndrome: a qualitative study of the patient experience
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...
| Main Authors: | , , , , , , |
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| Format: | Article |
| Language: | English |
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BMC
2023-10-01
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| Series: | Orphanet Journal of Rare Diseases |
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| Online Access: | https://doi.org/10.1186/s13023-023-02927-8 |
| _version_ | 1797556413847830528 |
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| author | Kate Williams Georgina Tickler Pedro Valdivielso Jordi Alonso Montserrat Vera-Llonch Laia Cubells Sarah Acaster |
| author_facet | Kate Williams Georgina Tickler Pedro Valdivielso Jordi Alonso Montserrat Vera-Llonch Laia Cubells Sarah Acaster |
| author_sort | Kate Williams |
| collection | DOAJ |
| 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. |
| first_indexed | 2024-03-10T17:02:28Z |
| format | Article |
| id | doaj.art-04d9ca235bee4d0aa265e5dc7d632476 |
| institution | Directory Open Access Journal |
| issn | 1750-1172 |
| language | English |
| last_indexed | 2024-03-10T17:02:28Z |
| publishDate | 2023-10-01 |
| publisher | BMC |
| record_format | Article |
| series | Orphanet Journal of Rare Diseases |
| spelling | doaj.art-04d9ca235bee4d0aa265e5dc7d6324762023-11-20T10:54:24ZengBMCOrphanet Journal of Rare Diseases1750-11722023-10-0118111210.1186/s13023-023-02927-8Symptoms and impacts of familial chylomicronemia syndrome: a qualitative study of the patient experienceKate Williams0Georgina Tickler1Pedro Valdivielso2Jordi Alonso3Montserrat Vera-Llonch4Laia Cubells5Sarah Acaster6Acaster Lloyd ConsultingAcaster Lloyd ConsultingServicio de Medicina Interna, Hospital Virgen de la Victoria, University of Málaga and Instituto de Investigaciones Biomédicas de Málaga (IBIMA)IMIM-Institut Hospital del Mar d’Investigacions Mèdiques, CIBERESP, Pompeu Fabra UniversityIonis PharmaceuticalsAkcea Therapeutics, Avenida Ernest LluchAcaster Lloyd ConsultingAbstract 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.https://doi.org/10.1186/s13023-023-02927-8Familial chylomicronemia syndromeFCSQualitativeSymptomsHealth-related quality of lifeConceptual model |
| spellingShingle | Kate Williams Georgina Tickler Pedro Valdivielso Jordi Alonso Montserrat Vera-Llonch Laia Cubells Sarah Acaster Symptoms and impacts of familial chylomicronemia syndrome: a qualitative study of the patient experience Orphanet Journal of Rare Diseases Familial chylomicronemia syndrome FCS Qualitative Symptoms Health-related quality of life Conceptual model |
| title | Symptoms and impacts of familial chylomicronemia syndrome: a qualitative study of the patient experience |
| title_full | Symptoms and impacts of familial chylomicronemia syndrome: a qualitative study of the patient experience |
| title_fullStr | Symptoms and impacts of familial chylomicronemia syndrome: a qualitative study of the patient experience |
| title_full_unstemmed | Symptoms and impacts of familial chylomicronemia syndrome: a qualitative study of the patient experience |
| title_short | Symptoms and impacts of familial chylomicronemia syndrome: a qualitative study of the patient experience |
| title_sort | symptoms and impacts of familial chylomicronemia syndrome a qualitative study of the patient experience |
| topic | Familial chylomicronemia syndrome FCS Qualitative Symptoms Health-related quality of life Conceptual model |
| url | https://doi.org/10.1186/s13023-023-02927-8 |
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