Contemporary approach to joint hypermobility and related disorders

Castori, Marco; Hakim, Alan

doi:10.1097/mop.0000000000000541

Cited by 105Connective tissue disorders researchDermatological and Skeletal DisordersOral and gingival health research

Contemporary approach to joint hypermobility and related disorders

Castori, Marco, Hakim, Alan·2017·Current Opinion in Pediatrics

DOI 10.1097/mop.0000000000000541

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Abstract

Purpose of review Joint hypermobility is a common, although largely ignored physical sign. Joint hypermobility is often asymptomatic but may be a feature of an underlying genetic disorder with systemic manifestations. The present article presents a comprehensive approach to considering joint hypermobility and clinically related issues in children and adults. Recent findings Ehlers-Danlos syndrome (EDS) is an umbrella term for various Mendelian connective tissue disorders sharing joint hypermobility, skin hyperextensibility, and tissue fragility. Hypermobile EDS is the default diagnosis in many individuals and still lacks of any confirmatory test. There is also a continuous spectrum of phenotypes between asymptomatic, nonsyndromic joint hypermobility, and hypermobile EDS. In 2017, a new international classification of EDSs, joint hypermobility, and related disorders was published. EDSs are now classified in 13 different variants because of mutations in 19 genes. The gap between joint hypermobility and hypermobile EDS is filled by the descriptive diagnosis of 'hypermobility spectrum disorders'. Alongside the new criteria recommendations for the assessment and management of selected issues related to joint hypermobility such as fatigue and physical therapy have also been published by expert panels. Summary Asymptomatic, nonsyndromic joint hypermobility, hypermobility spectrum disorders and EDS (particularly, the hypermobile type) are the most common phenotypes in children and ad…

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This demographic profile is characteristic of the HSD/hEDS patient case load seen within clinical practise, of which the majority (~60%) cluster into a complex/severe phenotypic group comprising highly burdensome intestinal and extra-intestinal complaints.
“this demographic profile is characteristic of the HSD/hEDS patient case load seen within clinical practise, 1,2,8,17-24 of which the majority (~60%) cluster into a complex/severe phenotypic group comprising highly burdensome intestinal and extra-intestinal complaints. 25,26”
From Rome IV Functional Gastrointestinal Disorders and Health Impairment in Subjects With Hypermobility Spectrum Disorders or Hypermobile Ehlers-Danlos Syndrome (2021) · cites this paper as [1]
The new hEDS criteria were intended to identify individuals with stronger evidence of structural systemic involvement and/or Mendelian inheritance among the broader JH-related phenotype spectrum.
“In contrast, the new hEDS criteria were conceived to simplistically recognize patients with more convincing structural systemic involvement and/or Mendelian transmission within a wider spectrum of JHrelated phenotypes [10].”
From Severity classes in adults with hypermobile Ehlers–Danlos syndrome/hypermobility spectrum disorders: a pilot study of 105 Italian patients (2019) · cites this paper as [10]

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Rome IV Functional Gastrointestinal Disorders and Health Impairment in Subjects With Hypermobility Spectrum Disorders or Hypermobile Ehlers-Danlos Syndrome
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Authors: Castori, M., & Hakim, A.
Affiliations: Casa Sollievo della Sofferenza (IT)
Hospital of St John & St Elizabeth (GB)
Corresponding author: Castori, Marco
ORCID: Castori, Marco
Hakim, Alan
Venue: Current Opinion in Pediatrics
Publisher: Ovid Technologies (Wolters Kluwer Health)
Published: 2017-12
Volume: 29
Issue: 6
Pages: 640-649
ISSN: 1040-8703 (ISSN-L)
1531-698X
DOI: 10.1097/mop.0000000000000541
OpenAlex: W2755436179
Cited by: 105
References: 28
Citations by year: 2026: 7 · 2025: 14 · 2024: 12 · 2023: 14 · 2022: 6 · 2021: 16 · 2020: 17 · 2019: 9 · 2018: 9
FWCI: 1.23
Type: journal article
Language: en
Open access: closed
Locations: Current Opinion in Pediatrics (publishedVersion)
PubMed (publishedVersion)
Topics: Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Connective tissue disorders research
Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Dermatological and Skeletal Disorders
Health Sciences › Health Professions › Pharmacy › Oral and gingival health research
Keywords: joint hypermobility, Ehlers-Danlos syndrome, hypermobile Ehlers-Danlos syndrome, hypermobility spectrum disorders, connective tissue diseases, fatigue, physiotherapy
MeSH terms: Diagnosis, Differential, Ehlers-Danlos Syndrome, Humans, Joint Instability, Phenotype

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Contemporary approach to joint hypermobility and related disorders

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