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Cited by 14Connective tissue disorders researchMusculoskeletal pain and rehabilitationPediatric Pain Management Techniques

Pain and fatigue in adults with Loeys–Dietz syndrome and vascular Ehlers–Danlos syndrome, a questionnaire‐based study

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Heidi, Johansen, Gry, Velvin, Lidal, Ingeborg B.·2022·American Journal of Medical Genetics Part A
DOI 10.1002/ajmg.a.62858PMC PMC9542319
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Abstract

The purpose was to study self‐reported chronic pain and fatigue symptoms among adults with molecularly verified Loeys–Dietz and vascular Ehlers–Danlos syndrome using a cross‐sectional questionnaire design. Seventy adults were invited through a National Resource Centre for Rare Disorders. A study specific questionnaire including Brief Pain Inventory, Standardized Nordic Questionnaire, Fatigue Severity Scale, Hospital Anxiety & Depression Scale, questions on physical activity, and disease burden was used. Fifty‐two persons participated, n = 34 with Loeys–Dietz and n = 18 with vascular Ehlers–Danlos syndrome, aged 18–68 years, 58% women. Chronic pain (79%) and fatigue (58%) symptoms were common. Half developed pain during childhood/adolescence. Sleep problems and high multi‐organ burden were significantly associated with chronic pain (p = 0.004, p = 0.014) and high fatigue (p < 0.001, p < 0.001). Chronic pain was associated with higher scores of fatigue (p = 0.002). Higher scores of fatigue were associated with lower level of physical activity (p = 0.014), higher cardiovascular burden (p = 0.025), and higher symptoms of anxiety (p = 0.001). In this study, symptoms of chronic pain, fatigue, sleep problems, and disease burden seemed to mutually reinforce each other. Initiatives should consider interventions aimed at postponing the onset and reducing symptoms of pain, fatigue, and sleep problems and thus reduce the total disease burden at an early stage in patients with these complex conditions.

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  • Within populations with symptomatic GJH, pain was highly frequent and often chronic, with mild to moderate intensity.

    “Within populations with symptomatic GJH, pain was highly frequent and often chronic, with mild to moderate intensity.39,44, 45, 46, 47,49, 50, 51,55,58”

    From Role of Anxiety in Individuals with Generalized Joint Hypermobility: A Systematic Review (2025) · cites this paper as [45]

    The Discussion (Chronic musculoskeletal pain; page unavailable) reports chronic musculoskeletal pain in 79% of participants. Table 2 in Results (Pain; page unavailable) shows that most participants reporting pain rated it mild or moderate. However, the study enrolled adults with molecularly verified Loeys–Dietz syndrome or vascular Ehlers–Danlos syndrome, not a population selected for symptomatic generalized joint hypermobility (GJH), so it does not establish the claim for that population. (LLM, conf=0.88)

    Experimental — accuracy not yet measured

  • In vascular EDS, adult patients presented no severe pain but only mild to moderate pain scores with an equal distribution of number of pain locations.

    “while in vascular EDS, adult patients presented no severe pain but only mild to moderate pain scores with an equal distribution of number of pain locations.45”

    From Role of Anxiety in Individuals with Generalized Joint Hypermobility: A Systematic Review (2025) · cites this paper as [45]

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Cited by

Sorted by citations

Authors
Heidi, J., Gry, V., & Lidal, I. B.
Affiliations
  • TRS National Resource Centre for Rare Disorders Sunnaas Rehabilitation Hospital Nesodden Norway
  • OsloMet – Oslo Metropolitan University (NO)
ORCID
Venue
American Journal of Medical Genetics Part A
Publisher
Wiley
Published
2022-06-10
Volume
188
Issue
9
Pages
2605-2616
ISSN
  • 1552-4825 (ISSN-L)
  • 1552-4833
DOI
10.1002/ajmg.a.62858
PMC
PMC9542319
OpenAlex
W4281738069
Cited by
14
References
3
Citations by year
2026: 2 · 2025: 4 · 2024: 5 · 2023: 1 · 2022: 2
FWCI
1.81
Type
journal article
Language
en
Open access
Licence
Locations
  • American Journal of Medical Genetics Part A (publishedVersion, cc-by-nc-nd)
  • PubMed Central (publishedVersion, cc-by-nc-nd)
  • PubMed (publishedVersion)
Topics
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Connective tissue disorders research
  • Health Sciences › Medicine › Pharmacology › Musculoskeletal pain and rehabilitation
  • Health Sciences › Medicine › Pediatrics, Perinatology and Child Health › Pediatric Pain Management Techniques
Keywords
Loeys-Dietz syndrome, vascular Ehlers-Danlos syndrome, chronic pain, fatigue, sleep disorders, disease burden, anxiety, physical activity, cardiovascular disease burden, comorbidities
MeSH terms
Adolescent, Adult, Cross-Sectional Studies, Ehlers-Danlos Syndrome, Fatigue, Female, Humans, Male, Surveys and Questionnaires, Sleep Wake Disorders, Loeys-Dietz Syndrome, Chronic Pain

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