Adults with Loeys-Dietz syndrome and vascular Ehlers-Danlos syndrome: a cross-sectional study of patient experiences with physical activity

Abstract

Purpose

To study patient experiences with physical activity among persons with Loeys-Dietz- or vascular Ehlers-Danlos syndrome.

Materials and methods

A postal questionnaire survey in 2018. Seventy adults with molecularly verified Loeys-Dietz syndrome types 1-4, or vascular Ehlers-Danlos syndrome recruited through a National Resource Centre for Rare Disorders in Norway.

Results

The response rate was 74%, (Loeys-Dietz n = 34, vascular Ehlers-Danlos n = 18), aged 18 to 68 years, 58% women. In total, 88.5% reported they had received advice regarding physical activity and most (77%) had modified their habits. Fifty percent had an appropriate- and 40% a low mean physical activity sum score. Another 10% had too high physical activity levels due to high intensity scores. Lower scores with the Fatigue Severity Scale (p = 0.033) and the anxiety subscale of the Hospital Anxiety and Depression Scale (p = 0.021), were associated with high physical activity levels. About a third reported unmet rehabilitation needs.

Conclusion

Many adults with Loeys-Dietz- or vascular Ehlers-Danlos syndrome may have a potential to reach more favorable physical activity levels by increasing the frequency and duration of activities. Future directions should include evaluation of effects of professional-led practical and safe physical activity sessions as well as customized multidisciplinary rehabilitation programs for these patient groups.

Keywords:

• Adults
• Loeys-Dietz syndrome
• physical activity
• postal questionnaire
• vascular Ehlers-Danlos syndrome

Acknowledgements

The authors want to thank the Norwegian Marfan- and Loeys-Dietz Association and the Norwegian Ehlers-Danlos Association and all participants who made this study possible. Thanks to our colleagues Nina Riise, Trine Bathen and Kerstin Lundberg-Larsen, who commented on the manuscript. TRS National Resource Centre for Rare Disorders, Sunnaas Rehabilitation Hospital, Norway funded the study.

Disclosure statement

The authors report no conflicting interests.

Data availability statement

The data underlying this study is restricted by the Norwegian Southeastern Regional Ethics Committee for Medical and Health Research Ethics. Due to these ethical restrictions regarding potentially identifying patient information data are not available.