Adults with Loeys–Dietz syndrome and vascular Ehlers–Danlos syndrome: A cross‐sectional study of health burden perspectives

Johansen, Heidi; Velvin, Gry; Lidal, Ingeborg Beate

doi:10.1002/ajmg.a.61396

Cited by 12 publications

(41 citation statements)

References 27 publications

(78 reference statements)

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“…This cross-sectional postal questionnaire survey was part of a larger study of physical functions and psychosocial aspects in adults with HTADs ( 4 , 8 , 13 ). In January 2018, all patients ( n = 70), aged 18 years and older, who had molecularly verified LDS or vEDS and were registered at the TRS National Resource Centre for Rare Disorders ( 14 ) in Norway were invited to participate in the study.…”

Section: Methodsmentioning

confidence: 99%

“…Most individuals with HTADs live with family members who have the same conditions, and many have close relatives who have died at early ages ( 4 ). Persons with HTADs are advised to have regular cardiovascular monitoring, to control their blood pressure with medication, and to schedule prophylactic surgery ( 1 , 2 , 5 ).…”

mentioning

confidence: 99%

“…As part of the diagnostic process, these patients also receive specific information regarding healthy lifestyles. This includes recommendations for restrictions in their physical activities ( 6 – 8 ) and sometimes also with respect to their jobs, sometimes resulting in early disability retirement ( 4 ).…”

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confidence: 99%

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Adults with Loeys-Dietz syndrome and vascular Ehlers-Danlos syndrome: A cross-sectional study of life satisfaction

Johansen¹,

Velvin²,

Fugl-Meyer³

et al. 2021

JRM

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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 TRS [AQ2] 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.

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Section: Methodsmentioning

confidence: 99%

mentioning

confidence: 99%

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Adults with Loeys-Dietz syndrome and vascular Ehlers-Danlos syndrome: A cross-sectional study of life satisfaction

Johansen¹,

Velvin²,

Fugl-Meyer³

et al. 2021

JRM

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“…A few studies in children and adolescents with hEDS and Hypermobility Spectrum Disorders (HSD, the current label for patients with joint hypermobility and musculoskeletal complications who do not fulfil the criteria for hEDS) [7] reported on increased fatigue and pain [18], generalized hyperalgesia [21], and improvement of disability after following an outpatient multidisciplinary rehabilitation treatment program [17]. Regarding adults with HCTD, it has been reported that patients with MFS, LDS, EDS and hEDS have persistent fatigue, pain, disability and burden of disease [4][5][6]14,16,[22][23][24][25][26][27][28].…”

Section: Introductionmentioning

confidence: 99%

Heritable Connective Tissue Disorders in Childhood: Increased Fatigue, Pain, Disability and Decreased General Health

Warnink‐Kavelaars

Koning

Rombaut

et al. 2021

Genes

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Heritable Connective Tissue Disorders (HCTD) show an overlap in the physical features that can evolve in childhood. It is unclear to what extent children with HCTD experience burden of disease. This study aims to quantify fatigue, pain, disability and general health with standardized validated questionnaires. Methods. This observational, multicenter study included 107 children, aged 4–18 years, with Marfan syndrome (MFS), 58%; Loeys-Dietz syndrome (LDS), 7%; Ehlers-Danlos syndromes (EDS), 8%; and hypermobile Ehlers-Danlos syndrome (hEDS), 27%. The assessments included PROMIS Fatigue Parent–Proxy and Pediatric self-report, pain and general health Visual-Analogue-Scales (VAS) and a Childhood Health Assessment Questionnaire (CHAQ). Results. Compared to normative data, the total HCTD-group showed significantly higher parent-rated fatigue T-scores (M = 53 (SD = 12), p = 0.004, d = 0.3), pain VAS scores (M = 2.8 (SD = 3.1), p < 0.001, d = 1.27), general health VAS scores (M = 2.5 (SD = 1.8), p < 0.001, d = 2.04) and CHAQ disability index scores (M = 0.9 (SD = 0.7), p < 0.001, d = 1.23). HCTD-subgroups showed similar results. The most adverse sequels were reported in children with hEDS, whereas the least were reported in those with MFS. Disability showed significant relationships with fatigue (p < 0.001, rs = 0.68), pain (p < 0.001, rs = 0.64) and general health (p < 0.001, rs = 0.59). Conclusions. Compared to normative data, children and adolescents with HCTD reported increased fatigue, pain, disability and decreased general health, with most differences translating into very large-sized effects. This new knowledge calls for systematic monitoring with standardized validated questionnaires, physical assessments and tailored interventions in clinical care.

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“…Eye involvement with lens luxation and risk of retinal detachment concerns mainly MFS (Loeys et al, 2010). In LDS, more severe vascular involvement with arterial tortuosity as well as a higher incidence of asthma and gastrointestinal symptoms has been reported (Johansen, Velvin, & Lidal, 2020; Krohg‐Sørensen et al, 2017; MacCarrick et al, 2014). In vEDS, there is a high risk of intestinal (colon) and peripartum uterine rupture and arterial involvement with rupture of branch arteries that might be preceded by aneurysm or dissection—or even occur spontaneously (Byers et al, 2017).…”

Section: Introductionmentioning

confidence: 99%

Multidisciplinary aortopathy clinics: A systematic scoping review of the literature and evaluation of patient experiences from a newly started clinic in Norway

Bathen

Krohg‐Sørensen

Lidal

2020

American J of Med Genetics Pt A

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Background: International guidelines recommend hereditary thoracic aortic diseases (HTADs) to be managed in multidisciplinary aorta clinics. Aim: To study HTAD patient's experiences with a aortopathy clinic in Norway and to review the literature on aortopathy clinics. Methods: (a) A systematic scoping review of research on multidisciplinary clinics for HTADs. (b) A cross-sectional postal questionnaire study to investigate patient experiences with the health-services. Fifty consecutive patients from the aortopathy clinic and 50 controls in usual care were invited to participate. Results: The review identified eight publications on aortopathy clinics. Although the papers were not judged for quality, these showed promising results from such clinics in terms of diagnostics and increased adherence to guideline-directed therapy. The survey constituted thirty-seven (74%) patients and 22 (44%) controls who responded to postal questionnaires. Both groups reported delays in diagnostics and follow-up appointments prior to the start of the clinic. Patients indicated high satisfaction with the aortopathy clinic, whereas controls reported poor coordination of medical followup. Individuals in both groups struggled with disease self-management. Conclusion: Norwegian patient experiences found the aortopathy clinic beneficial. According to studies included in the review, disease management in aortopathy clinics may improve patient satisfaction, diagnostics and follow-up. Effect studies may further document the benefits of clinic organization, treatment, cost-efficiency and patient experiences.

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Adults with Loeys–Dietz syndrome and vascular Ehlers–Danlos syndrome: A cross‐sectional study of health burden perspectives

Cited by 12 publications

References 27 publications

Adults with Loeys-Dietz syndrome and vascular Ehlers-Danlos syndrome: A cross-sectional study of life satisfaction

Adults with Loeys-Dietz syndrome and vascular Ehlers-Danlos syndrome: A cross-sectional study of life satisfaction

Heritable Connective Tissue Disorders in Childhood: Increased Fatigue, Pain, Disability and Decreased General Health

Multidisciplinary aortopathy clinics: A systematic scoping review of the literature and evaluation of patient experiences from a newly started clinic in Norway

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