Nationwide population-based cohort study of celiac disease and risk of Ehlers-Danlos syndrome and joint hypermobility syndrome

Laszkowska, Monika; Roy, Abhik; Lebwohl, Benjamin; Green, Peter H.R.; Sundelin, Heléne E.K.; Ludvigsson, Jonas F.

doi:10.1016/j.dld.2016.05.019

Cited by 15 publications

(9 citation statements)

References 32 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…Constipation with or without other features of voiding dysfunction was often the initial sign of gastrointestinal involvement, but problems such as hemorrhoids, rectal bleeding, and anal fissures were uncommon and more serious complications such as rectal prolapse or fecal impaction did not occur. Likewise, hiatal hernia, visceroptosis, dolichocolon, and celiac disease, for which increased rates were described in hEDS [108,109], were only sporadic observations in our sample.…”

Section: Discussionmentioning

confidence: 48%

Multisystemic manifestations in a cohort of 75 classical Ehlers-Danlos syndrome patients: natural history and nosological perspectives

Ritelli

Venturini

Cinquina

et al. 2020

Orphanet J Rare Dis

View full text Add to dashboard Cite

Background: The Ehlers-Danlos syndromes (EDS) are rare connective tissue disorders consisting of 13 subtypes with overlapping features including joint hypermobility, skin and generalized connective tissue fragility. Classical EDS (cEDS) is principally caused by heterozygous COL5A1 or COL5A2 variants and rarely by the COL1A1 p.(Arg312Cys) substitution. Current major criteria are (1) skin hyperextensibility plus atrophic scars and (2) generalized joint hypermobility (gJHM). Minor criteria include additional mucocutaneous signs, epicanthal folds, gJHM complications, and an affected firstdegree relative. Minimal criteria prompting molecular testing are major criterion 1 plus either major criterion 2 or 3 minor criteria. In addition to these features, the clinical picture also involves multiple organ systems, but large-scale cohort studies are still missing. This study aimed to investigate the multisystemic involvement and natural history of cEDS through a cross-sectional study on a cohort of 75 molecularly confirmed patients evaluated from 2010 to 2019 in a tertiary referral center. The diagnostic criteria, additional mucocutaneous, osteoarticular, musculoskeletal, cardiovascular, gastrointestinal, uro-gynecological, neuropsychiatric, and atopic issues, and facial/ocular features were ascertained, and feature rates compared by sex and age. Results: Our study confirms that cEDS is mainly characterized by cutaneous and articular involvement, though none of their hallmarks was represented in all cases and suggests a milder multisystemic involvement and a more favorable natural history compared to other EDS subtypes. Abnormal scarring was the most frequent and characteristic sign, skin hyperextensibility and gJHM were less common, all without any sex and age bias; joint instability complications were more recurrent in adults. Some orthopedic features showed a high prevalence, whereas the other issues related to the investigated organ systems were less recurrent with few exceptions and age-related differences.

show abstract

Section: Discussionmentioning

confidence: 48%

Multisystemic manifestations in a cohort of 75 classical Ehlers-Danlos syndrome patients: natural history and nosological perspectives

Ritelli

Venturini

Cinquina

et al. 2020

Orphanet J Rare Dis

View full text Add to dashboard Cite

show abstract

“…Apart from Sjogren's syndrome, research on CD-associated connective tissue disorders (CTD) is scarce and comprises mostly case-control studies or individual cases. The joint hypermobility syndrome (JHS), a commonly underdiagnosed heritable CTD possibly related to CD (63)(64)(65) , was present in 3.1% of our patients. The mixed connective-tissue disease (MCTD), an overlap of systemic lupus erythematosus (SLE), scleroderma and myositis, previously described in association to CD (66) , affected only one patient.…”

Section: Discussionmentioning

confidence: 88%

Review of Celiac Disease Presentation in a Pediatric Tertiary Centre

Oliveira¹,

Mohan

Fagbemi

2018

Arq. Gastroenterol.

View full text Add to dashboard Cite

show abstract

“…More recently, Laszkowska et al. performed a nationwide population‐based cohort study in Sweden, reporting a 49% increased risk of JHS/EDS‐HT in patients with celiac disease (95% CI = 1.07‐2.07; P =.018) …”

Section: Resultsmentioning

confidence: 99%

Gastrointestinal disorders in joint hypermobility syndrome/Ehlers‐Danlos syndrome hypermobility type: A review for the gastroenterologist

Beckers

Keszthelyi

Fikree

et al. 2017

Neurogastroenterology Motil

View full text Add to dashboard Cite

The aim of this review was to examine the nature of GI symptoms and their underlying pathophysiology in JHS/EDS-HT. In addition, we consider the clinical implications of the diagnosis and treatment of JHS/EDS-HT for practicing clinicians in gastroenterology. Observations summarized in this review may furthermore represent the first step toward the identification of a new pathophysiological basis for a substantial subgroup of patients with functional GI disorders.

show abstract

Nationwide population-based cohort study of celiac disease and risk of Ehlers-Danlos syndrome and joint hypermobility syndrome

Cited by 15 publications

References 32 publications

Multisystemic manifestations in a cohort of 75 classical Ehlers-Danlos syndrome patients: natural history and nosological perspectives

Multisystemic manifestations in a cohort of 75 classical Ehlers-Danlos syndrome patients: natural history and nosological perspectives

Review of Celiac Disease Presentation in a Pediatric Tertiary Centre

Gastrointestinal disorders in joint hypermobility syndrome/Ehlers‐Danlos syndrome hypermobility type: A review for the gastroenterologist

Contact Info

Product

Resources

About