Laryngological presentations of Ehlers–Danlos syndrome: case series of nine patients from two London tertiary referral centres

Arulanandam, Shalini; Hakim, Alan J.; Aziz, Qasim; Sandhu, Guri; Birchall, Martin A.

doi:10.1111/coa.12708

Cited by 11 publications

(22 citation statements)

References 9 publications

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“…15 Furthermore, in a retrospective case series of 9 EDS patients (6 hEDS, 3 classical), patients were found to have painless dysphonia, fluctuating hoarseness, weak voice, dysphagia, recurrent episodes of laryngospasm, and subglottic stenosis. 58 Dysphonia within EDS patients may be partly attributed to laxity, hypotonia, discoordination or decreased movement of the vocal cords, as well as reduced mobility of the cricoarytenoid joint. 15,58,59 In EDS patients with dysphonia, prognosis with the use of speech therapy has shown to improve vocal cord performance using both self- and observer-rated evaluations.…”

Section: Respiratory Manifestationsmentioning

confidence: 99%

“…58 Dysphonia within EDS patients may be partly attributed to laxity, hypotonia, discoordination or decreased movement of the vocal cords, as well as reduced mobility of the cricoarytenoid joint. 15,58,59 In EDS patients with dysphonia, prognosis with the use of speech therapy has shown to improve vocal cord performance using both self-and observer-rated evaluations. 35 Upper airway collapse and obstruction has been observed in EDS and HSD patients.…”

Section: Upper Airway Manifestationsmentioning

confidence: 99%

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A review of respiratory manifestations and their management in Ehlers-Danlos syndromes and hypermobility spectrum disorders

et al. 2021

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Background: Ehlers-Danlos Syndromes (EDS) and Hypermobility Spectrum Disorders (HSD) are a heterogeneous group of heritable genetic connective tissue disorders with multiple characteristics including joint hypermobility, tissue fragility, and multiple organ dysfunction. Respiratory manifestations have been described in EDS patients, but have not been systematically characterized. A narrative review was undertaken to describe the respiratory presentations and management strategies of individuals with EDS and HSD. Methods: A broad literature search of Medline, Embase, Cochrane Database of Systematic Reviews, and Cochrane CENTRAL was undertaken from inception to November 2020 of all study types, evaluating EDS/ HSD and pulmonary conditions. This narrative review was limited to adult patients and publications in English. Results: Respiratory manifestations have generally been described in hypermobile EDS (hEDS), classical and vascular EDS subtypes. Depending on EDS subtype, they may include but are not limited to dyspnea, dysphonia, asthma, sleep apnea, and reduced respiratory muscle function, with hemothorax and pneumothorax often observed with vascular EDS. Respiratory manifestations in HSD have been less frequently characterized in the literature, but exertional dyspnea is the more common symptom described. Respiratory symptoms in EDS can have an adverse impact on quality of life. The respiratory management of EDS patients has followed standard approaches with thoracotomy tubes and pleurodesis for pleural manifestations, vocal cord strengthening exercises, continuous positive pressure support for sleep apnea, and exercise training. Reduced respiratory muscle function in hEDS patients responds to inspiratory muscle training. Conclusion: Respiratory symptoms and manifestations are described in EDS and HSD, and have generally been managed using conservative non-surgical strategies. Research into the prevalence, incidence and specific respiratory management strategies in EDS and HSD is needed to mitigate some of the associated morbidity.

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Section: Respiratory Manifestationsmentioning

confidence: 99%

Section: Upper Airway Manifestationsmentioning

confidence: 99%

A review of respiratory manifestations and their management in Ehlers-Danlos syndromes and hypermobility spectrum disorders

et al. 2021

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“…The results of the literature review are summarised in Table 2. [8][9][10][11][12][13][14][15][16][17][18][19][20]…”

Section: Resultsmentioning

confidence: 99%

Laryngological presentations and patient-reported outcome measures in Ehlers–Danlos syndrome

2021

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Objective. This study aimed to characterise the laryngological presentations of Ehlers-Danlos syndrome and conduct a preliminary exploration of patient-reported outcome measures.Methods. This paper describes a retrospective case series of patients with Ehlers-Danlos syndrome seen by the senior author between 2005 and 2019. A literature review was conducted to summarise the existing findings.Results. Twenty-one patients met the inclusion criteria. All reported symptoms were grouped; this showed that swallowing, voice and hyolaryngeal skeletal complex problems were commonest. Patient-reported outcome measures were available for eight patients, which showed large variations in: the Reflux Severity Index (median = 25.5; range = 0-33), Eating Assessment Tool score (median = 21.5; range = 0-35) and Voice Handicap Index (median = 21.5; range = 0-104). Twelve studies met our literature review inclusion criteria, involving at least 91 patients with laryngological presentations of Ehlers-Danlos syndrome. Conclusion.Ehlers-Danlos syndrome patients experience musculoskeletal issues, which in the throat manifest as hyolaryngeal skeletal complex problems. Future studies with larger patient numbers are required to validate laryngological patient-reported outcome measure tools in Ehlers-Danlos syndrome.https://www.cambridge.org/core/terms.

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“…Chronic nasal congestion, abnormal orofacial anatomy, upper airway obstruction, dysphonia, vocal cord abnormalities, and swallowing abnormalities are all described. Typically, these are short case reports or observation studies (Ali et al, 2016;Arulanandam, Hakim, Aziz, Sandhu, & Birchall, 2016;Ayres & Gabbott, 2002;Chatzoudis, Kelly, Lancaster, & Jones, 2015;Desuter, Gardiner, & Dahan, 2009;Guilleminault et al, 2013;Harris, Khiani, Lowe, & Vora, 2013;Hunter, Morgan, & Bird, 1998;Rimmer, Giddings, Cavalli, & Hartley, 2008: Safi, Alyosif, Imam, & Assaly, 2017Sedky, Gaisl, & Bennett, 2019;Van Camp, Aerden, & Politis, 2020).…”

Section: Introductionmentioning

confidence: 99%

Throat and voice problems inEhlers–Danlossyndromes and hypermobility spectrum disorders

Birchall

Lam

Wood

2021

American J of Med Genetics Pt C

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A small number of case reports and observational studies describe chronic nasal congestion, upper airway obstruction, dysphonia, vocal cord abnormalities, and swallowing abnormalities in the Ehlers-Danlos syndromes. Little is known of the causes and therefore treatments of these, yet they are not uncommon findings in persons with hypermobility-related conditions presenting in the healthcare setting. We have a specialist multidisciplinary ear, nose, and throat and speech therapy practice with accumulating observational and empirical experience of managing these conditions, which include altered voice, choking, high dysphagia and anterior and deep neck pains. Here, we present our experience, some illustrative cases, and suggestions for future work in this evolving field.

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Laryngological presentations of Ehlers–Danlos syndrome: case series of nine patients from two London tertiary referral centres

Cited by 11 publications

References 9 publications

A review of respiratory manifestations and their management in Ehlers-Danlos syndromes and hypermobility spectrum disorders

A review of respiratory manifestations and their management in Ehlers-Danlos syndromes and hypermobility spectrum disorders

Laryngological presentations and patient-reported outcome measures in Ehlers–Danlos syndrome

Throat and voice problems inEhlers–Danlossyndromes and hypermobility spectrum disorders

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