Adults with Loeys-Dietz syndrome and vascular Ehlers-Danlos syndrome: A cross-sectional study of life satisfaction
DOI:
https://doi.org/10.2340/jrm.v53.572Keywords:
life satisfaction, Loeys-Dietz syndrome, postal questionnaire, vascular Ehlers-Danlos syndromeAbstract
Objective: To explore life satisfaction among adults with Loeys-Dietz and those with vascular Ehlers-Danlos syndrome.
Design: Postal survey in 2018.
Participants and methods: Persons with molecularly verified Loeys-Dietz syndrome or vascular Ehlers-Danlos syndrome were recruited through the National Resource Centre for Rare Disorders in Norway. The study used the Life Satisfaction Questionnaire 11, Hospital Anxiety and Depression Scale, Fatigue Severity Scale, and questions about physical activity and disease burden. Descriptive statistics were conducted with Bonferroni corrections.
Results: The response rate was 74%, 52 participants, age range 18–68 years, and 58% were women. Only half of the participants were satisfied with their lives as a whole. Participants reported dissatisfaction with vocation, somatic health, and sexual life in particular. Participants with vascular Ehlers-Danlos syndrome (n = 18) were satisfied with more areas of life than those with Loeys-Dietz syndrome (n = 34). Low overall satisfaction was significantly associated with severe fatigue (p = 0.002) and symptoms of anxiety (p = 0.001).
Conclusion: This study provides important information about living with Loeys-Dietz syndrome and vascular Ehlers-Danlos syndrome. Future studies should identify factors that reduce/increase life satisfaction. Professionals in welfare systems need more information about the unique challenges of living with these diagnoses. Guidelines for research and clinical measurements of life satisfaction should be updated.
Lay Abstract
The aim of this study was to explore life satisfaction in adults with Loeys-Dietz syndrome and those with vascular Ehlers-Danlos syndrome. In 2018, the Life Satisfaction Questionnaire 11 and questionnaires including psychological distress, fatigue, physical activity, and disease burden were sent to adults who were registered at the National Resource Centre for Rare Disorders in Norway. The response rate was 74%, and 52 people aged 18–68 years participated. Participants who had vascular Ehlers-Danlos syndrome were more often satisfied in most areas of their lives than those with Loeys-Dietz syndrome. Both groups indicated the greatest satisfaction in relation to family life, relationships with their partners, and activities of daily living, while satisfaction with vocations, somatic health, and sexual lives were less common. Low overall life satisfaction was associated with higher levels of fatigue and greater symptoms of anxiety. Future studies should be conducted to gain greater knowledge about factors that reduce and increase their life satisfaction.
Downloads
References
Loeys BL, Dietz HC. Loeys-Dietz syndrome. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Mirzaa G, et al., editors. GeneReviews((R)). Seattle (WA): University of Washington; 1993-2018. [Updated 2018; cited 2020 Jan 10].
Byers PH, Belmont J, Black J, De Backer J, Frank M, Jeunemaitre X, et al. Diagnosis, natural history, and management in vascular Ehlers-Danlos syndrome. Am J Med Genet C Semin Med Genet 2017; 175: 40-47.
https://doi.org/10.1002/ajmg.c.31553
Meester JAN, Verstraeten A, Schepers D, Alaerts M, Van Laer L, Loeys BL. Differences in manifestations of Marfan syndrome, Ehlers-Danlos syndrome, and Loeys-Dietz syndrome. Ann Cardiothorac Surg 2017; 6: 582-594.
https://doi.org/10.21037/acs.2017.11.03
Johansen H, Velvin G, Lidal I. Adults with Loeys-Dietz syndrome and vascular Ehlers-Danlos syndrome: a cross-sectional study of health burden perspectives. Am J Med Genet A 2020; 182: 137-145.
https://doi.org/10.1002/ajmg.a.61396
Milewicz DM, Regalado E. Heritable thoracic aortic disease overview. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Mirzaa G, et al., editors. GeneReviews((R)). Seattle (WA): University of Washington; 1993-2017. [Updated 2017; cited 2020 Dec 10].
Cheng A, Owens D. Marfan syndrome, inherited aortopathies and exercise: what is the right answer? Br J Sports Med 2016; 50: 100-104.
https://doi.org/10.1136/bjsports-2014-306440rep
Thijssen CGE, Bons LR, Gokalp AL, Van Kimmenade RRJ, Mokhles MM, Pelliccia A, et al. Exercise and sports participation in patients with thoracic aortic disease: a review. Expert Rev Cardiovasc Ther 2019; 17: 251-266.
https://doi.org/10.1080/14779072.2019.1585807
Velvin G, Johansen H, Vardeberg K, Sjogren Fugl-Meyer K, Wilhelmsen JE, Lidal I. Physical exercise for people with hereditable thoracic aortic disease. A study of patient perspectives. Disabil Rehab 2019: 1-8.
https://doi.org/10.1080/09638288.2019.1703145
Velvin G, Wilhelmsen JE, Johansen H, Bathen T, Geirdal AO. Systematic review of quality of life in persons with hereditary thoracic aortic aneurysm and dissection diagnoses. Clin Genet 2019; 95: 661-676.
https://doi.org/10.1111/cge.13522
Thijssen CG, Doze DE, Gökalp AL, Timmermans J, Peters JB, Elbers-van de Ven LH, et al. Male-female differences in quality of life and coping style in patients with Marfan syndrome and hereditary thoracic aortic diseases. J Genet Couns 2020; 00: 1-11.
Thijssen CG, Dekker S, Bons LR, Gökalp AL, Kauling RM, van den Bosch AE, et al. Health-related quality of life and lived experiences in males and females with thoracic aortic disease and their partners. Open Heart 2020; 7: e001419.
https://doi.org/10.1136/openhrt-2020-001419
Fugl-Meyer AR, Melin R, Fugl-Meyer KS. Life satisfaction in 18-to 64-year-old Swedes: in relation to gender, age, partner and immigrant status. J Rehab Med 2002; 34: 239-246.
https://doi.org/10.1080/165019702760279242
Johansen H, Velvin G, Lidal I. Adults with Loeys-Dietz syndrome and vascular Ehlers-Danlos syndrome: a cross-sectional study of patient experiences with physical activity. Disabil Rehabil 2020: 1-8.
https://doi.org/10.1080/09638288.2020.1815874
TRS National Resource Centre for Rare Disorders, Norway, Norwegian [Internet]. Information [cited 2020 Dec 15]. Available from: https://www.sunnaas.no/fag-og-forskning/ kompetansesentre-og-tjenester/trs-kompetansesenter-forsjeldne-diagnoser (in Norwegian).
Køber T, Bø TP. [The Norwegian population's connection to the labour market 2018]. Norwegian, Statistics Norway 2019 [cited 2020 Dec 15]. Available from: https://www.ssb.no/arbeid-og-lonn/artikler-og-publikasjoner/befolkningens-tilknytning-til-arbeidsmarkedet-2018. (In Norwegian).
HUNT Research Centre [The Nord-Trøndelag Health Study][Internet]. HUNT3 Fitness Project. Questionnaire - NT3FitnQ20 2019 [cited 2020 Feb 15]. Available from: https://hunt-db.medisin.ntnu.no/hunt-db/#/studypart/189.
Reed, JL, Pipe AL. Practical approaches to prescribing physical activity and monitoring exercise intensity. Can J Cardiol 2016; 32: 514-522.
https://doi.org/10.1016/j.cjca.2015.12.024
Nilsen TI, Romundstad PR, Petersen H, Gunnell D, Vatten LJ. Recreational physical activity and cancer risk in subsites of the colon (the Nord-Trondelag Health Study). Cancer Epidemiol Biomarkers Prev 2008; 17: 183-188.
https://doi.org/10.1158/1055-9965.EPI-07-0746
Kuorinka I, Jonsson B, Kilbom A, Vinterberg H, Biering-Sorensen F, Andersson G, et al. Standardised Nordic questionnaires for the analysis of musculoskeletal symptoms. Appl Ergon 1987; 18: 233-237.
https://doi.org/10.1016/0003-6870(87)90010-X
Stålnacke BM. Life satisfaction in patients with chronic pain-relation to pain intensity, disability, and psychological factors. Neuropsyc Dis Treat 2011; 7: 683-689.
https://doi.org/10.2147/NDT.S25321
Wilhelmson K, Fritzell E, Eklund K, Dahlin-Ivanoff S. Life satisfaction and frailty among older adults. Health Psychol Res 2013; 1: 167-172.
https://doi.org/10.4081/hpr.2013.1515
Melin R, Fugl-Meyer KS, Fugl-Meyer AR. Life satisfaction in 18- to 64-year-old Swedes: in relation to education, employment situation, health and physical activity. J Rehabil Med 2003; 35: 84-90.
https://doi.org/10.1080/16501970306119
Ekstrand E, Lexell J, Brogårdh C. Test-retest reliability of the life satisfaction questionnaire (LiSat-11) and association between items in individuals with chronic stroke. J Rehabil Med 2018; 50: 713-718.
https://doi.org/10.2340/16501977-2362
Krupp LB, LaRocca NG, Muir-Nash J, Steinberg AD. The fatigue severity scale. Application to patients with multiple sclerosis and systemic lupus erythematosus. Arch Neurol 1989; 46: 1121-1123.
https://doi.org/10.1001/archneur.1989.00520460115022
Lerdal A, Wahl A, Rustoen T, Hanestad BR, Moum T. Fatigue in the general population: a translation and test of the psychometric properties of the Norwegian version of the fatigue severity scale. Scan J Public Health. 2005; 33: 123-130.
https://doi.org/10.1080/14034940410028406
Zigmond AS, Snaith RP. The Hospital Anxiety and Depression scale. Acta Psychiatr Scand 1983; 67: 361-370.
https://doi.org/10.1111/j.1600-0447.1983.tb09716.x
Mykletun A, Stordal E, Dahl AA. Hospital Anxiety and Depression (HAD) scale: factor structure, item analyses and internal consistency in a large population. Br J Psychiatry 2001; 179: 540-544.
https://doi.org/10.1192/bjp.179.6.540
Anke A, Damsgård E, Røe C. Life satisfaction in subjects with long-term musculoskeletal pain in relation to pain intensity, pain distribution and coping. J Rehabil Med 2013; 45: 277-285.
https://doi.org/10.2340/16501977-1102
Wallin E, Larsson M, Rubertsson S, Kristofferzon M-L. Cardiac arrest and hypothermia treatment-function and life satisfaction among survivors in the first 6 months. Resuscitation 2014; 85: 538-543.
https://doi.org/10.1016/j.resuscitation.2013.12.020
von Elm E, Altman DG, Egger M, Pocock SJ, Gotzsche PC, Vandenbroucke JP. The Strengthening the Reporting of Observational Studies in Epidemiology (STROBE) statement: guidelines for reporting observational studies. J Clin Epidemiol 2008; 61: 344-349.
https://doi.org/10.1016/j.jclinepi.2007.11.008
Vanem TT, Rand‑Hendriksen S, Brunborg C, Geiran OR, Røe C. Health‑related quality of life in Marfan syndrome: a 10‑year follow‑up. Health Qual Life Outcomes (2020) 18: 376. Available from: https://doi.org/10.1186/s12955-020-01633-4
https://doi.org/10.1186/s12955-020-01633-4
Diener E. Understanding Scores on the Satisfaction with Life Scale 2006 [cited 2020 Dec 15]. Available from: http://internal.psychology.illinois.edu/~ediener/SWLS.html.
Velvin G, Bathen T, Rand-Hendriksen S, Geirdal AO. Work participation in adults with Marfan syndrome: Demographic characteristics, MFS related health symptoms, chronic pain, and fatigue. Am J Med Genet A 2015; 167: 3082-3090.
https://doi.org/10.1002/ajmg.a.37370
Goldfinger JZ, Preiss LR, Devereux RB, Roman MJ, Hendershot TP, Kroner BL, et al. Marfan syndrome and quality of life in the GenTAC registry. J Am Coll Cardiol 2017; 69: 2821-2830.
https://doi.org/10.1016/j.jacc.2017.04.026
Lunde ES, Otnes B, Ramm J. [Sosial ulikhet i bruk av helsetjenester. En kartlegging 2017 [Social inequality in the use of health services, a survey 2017]. [cited 2020 Des15]. Avalilable from: https://www.ssb.no/helse/artikler-og-publikasjoner/sosial-ulikhet-i-bruk-av-helsetjenester (in Norwegian).
Jacobsen EL, Bye A, Aass N, Fossa SD, Grotmol KS, Kaasa S, et al. Norwegian reference values for the Short-Form Health Survey 36: development over time. Qual Life Res 2018; 27: 1201-1212.
Published
How to Cite
License
Copyright (c) 2021 Heidi Johansen, Gry Velvin, Kerstin Fugl-Meyer, Ingeborg Beate Lidal
This work is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License.
All digitalized JRM contents is available freely online. The Foundation for Rehabilitation Medicine owns the copyright for all material published until volume 40 (2008), as from volume 41 (2009) authors retain copyright to their work and as from volume 49 (2017) the journal has been published Open Access, under CC-BY-NC licences (unless otherwise specified). The CC-BY-NC licenses allow third parties to copy and redistribute the material in any medium or format and to remix, transform, and build upon the material for non-commercial purposes, provided proper attribution to the original work.
From 2024, articles are published under the CC-BY licence. This license permits sharing, adapting, and using the material for any purpose, including commercial use, with the condition of providing full attribution to the original publication.
