1. Malfait, F, Francomano, C, Byers, P, et al. The 2017 international classification of the Ehlers-Danlos syndromes. Am J Med Genet C Semin Med Genet 2017; 175: 8–26.
Google Scholar | Crossref | Medline2. Callewaert, B, Malfait, F, Loeys, B, et al. Ehlers-Danlos syndromes and Marfan syndrome. Best Pract Res Clin Rheumatol 2008; 22: 165–189.
Google Scholar | Crossref | Medline | ISI3. Demmler, JC, Atkinson, MD, Reinhold, EJ, et al. Diagnosed prevalence of Ehlers-Danlos syndrome and hypermobility spectrum disorder in Wales, UK: a national electronic cohort study and case-control comparison. BMJ Open 2019; 9: e031365.
Google Scholar | Crossref | Medline4. Grahame, R, Bird, HA, Child, A. The revised (Brighton 1998) criteria for the diagnosis of benign joint hypermobility syndrome (BJHS). J Rheumatol 2000; 27: 1777–1779.
Google Scholar | Medline | ISI5. Castori, M, Tinkle, B, Levy, H, et al. A framework for the classification of joint hypermobility and related conditions. Am J Med Genet C Semin Med Genet 2017; 175: 148–157.
Google Scholar | Crossref | Medline6. Cederlof, M, Larsson, H, Lichtenstein, P, et al. Nationwide population-based cohort study of psychiatric disorders in individuals with Ehlers-Danlos syndrome or hypermobility syndrome and their siblings. BMC Psychiatry 2016; 16: 207.
Google Scholar | Crossref | Medline7. Ayres, JG, Pope, FM, Reidy, JF, et al. Abnormalities of the lungs and thoracic cage in the Ehlers-Danlos syndrome. Thorax 1985; 40: 300–305.
Google Scholar | Crossref | Medline8. Shields, LB, Rolf, CM, Davis, GJ, et al. Sudden and unexpected death in three cases of Ehlers-Danlos syndrome type IV. J Forensic Sci 2010; 55: 1641–1645.
Google Scholar | Crossref | Medline9. Brissot, R, Amoretti, R, Ducret, L, et al. Ehlers-Danlos and respiratory function. Clinical data on a cohort of 5,700 patients: oxygen therapy and physical rehabilitation medicine (P.R.M.). J Neurosci Neurol Surg 2020; 6(3): 1–6.
Google Scholar10. Gazit, Y, Nahir, AM, Grahame, R, et al. Dysautonomia in the joint hypermobility syndrome. Am J Med 2003; 115: 33–40.
Google Scholar | Crossref | Medline | ISI11. Morgan, AW, Pearson, SB, Davies, S, et al. Asthma and airways collapse in two heritable disorders of connective tissue. Ann Rheum Dis 2007; 66: 1369–1373.
Google Scholar | Crossref | Medline12. Herman, TE, McAlister, WH. Cavitary pulmonary lesions in type IV Ehlers-Danlos syndrome. Pediatr Radiol 1994; 24: 263–265.
Google Scholar | Crossref | Medline13. Park, MA, Shin, SY, Kim, YJ, et al. Vascular Ehlers-Danlos syndrome with cryptorchidism, recurrent pneumothorax, and pulmonary capillary hemangiomatosis-like foci: A case report. Medicine (Baltimore) 2017; 96: e8853.
Google Scholar | Crossref | Medline14. Castori, M, Camerota, F, Celletti, C, et al. Natural history and manifestations of the hypermobility type Ehlers-Danlos syndrome: a pilot study on 21 patients. Am J Med Genet A 2010; 152A: 556–564.
Google Scholar | Crossref | Medline | ISI15. Reychler, G, Liistro, G, Pierard, GE, et al. Inspiratory muscle strength training improves lung function in patients with the hypermobile Ehlers-Danlos syndrome: A randomized controlled trial. Am J Med Genet A 2019; 179: 356–364.
Google Scholar | Crossref | Medline16. Verbraecken, J, Declerck, A, Van de Heyning, P, et al. Evaluation for sleep apnea in patients with Ehlers-Danlos syndrome and Marfan: a questionnaire study. Clin Genet 2001; 60: 360–365.
Google Scholar | Crossref | Medline | ISI17. Lahousse, L, Seys, LJM, Joos, GF, et al. Epidemiology and impact of chronic bronchitis in chronic obstructive pulmonary disease. Eur Respir J 2017; 50: 1602470.
Google Scholar | Crossref | Medline18. Zeitoun, JD, Lefevre, JH, de Parades, V, et al. Functional digestive symptoms and quality of life in patients with Ehlers-Danlos syndromes: results of a national cohort study on 134 patients. PLoS One 2013; 8: e80321.
Google Scholar | Crossref | Medline19. Gaude, GS . Pulmonary manifestations of gastroesophageal reflux disease. Ann Thorac Med 2009; 4: 115–123.
Google Scholar | Crossref | Medline20. Sylvester, DC, Karkos, PD, Vaughan, C, et al. Chronic cough, reflux, postnasal drip syndrome, and the otolaryngologist. Int J Otolaryngol 2012; 2012: 564852.
Google Scholar | Crossref | Medline21. Purohit, N, Marsland, D, Roberts, N, et al. Haemo-pneumothorax and haemoptysis in a patient with suspected Ehlers-Danlos syndrome. Interact Cardiovasc Thorac Surg 2009; 9: 130–131.
Google Scholar | Crossref | Medline22. Kadota, Y, Fukui, E, Kitahara, N, et al. Total pleural covering technique for intractable pneumothorax in patient with Ehlers-Danlos syndrome. Gen Thorac Cardiovasc Surg 2016; 64: 425–428.
Google Scholar | Crossref | Medline23. O’Neill, S, Sweeney, J, Walker, F, et al. Pneumothorax in the Ehlers-Danlos syndrome. Ir J Med Sci 1981; 150: 43–44.
Google Scholar | Crossref | Medline24. Berezowska, S, Christe, A, Bartholdi, D, et al. Pulmonary fibrous nodule with ossifications may indicate vascular Ehlers-Danlos syndrome with missense mutation in COL3A1. Am J Respir Crit Care Med 2018; 197: 661–662.
Google Scholar | Crossref | Medline25. Alvarez, K, Jordi, L, Jose Angel, H. Hemothorax in vascular Ehlers-Danlos syndrome. Reumatol Clin 2019; 15: e128–e129.
Google Scholar | Crossref | Medline26. Ong, KT, Perdu, J, De Backer, J, et al. Effect of celiprolol on prevention of cardiovascular events in vascular Ehlers-Danlos syndrome: a prospective randomised, open, blinded-endpoints trial. Lancet 2010; 376: 1476–1484.
Google Scholar | Crossref | Medline | ISI27. Byers, PH, Belmont, J, Black, J, et al. Diagnosis, natural history, and management in vascular Ehlers-Danlos syndrome. Am J Med Genet C Semin Med Genet 2017; 175: 40–47.
Google Scholar | Crossref | Medline28. Amin, R, Waibel, BH. Spontaneous diaphragmatic rupture in hypermobile type Ehlers-Danlos syndrome. Case Rep Surg 2017; 2017: 2081725.
Google Scholar | Medline29. Wesley, JR, Mahour, H, Woolley, MM. Multiple surgical problems in two patients with Ehlers-Danlos syndrome. Surgery 1980; 87: 319–324.
Google Scholar | Medline30. Levine, M, Adler, J. Acute diaphragmatic rupture in a patient with Ehlers-Danlos syndrome. J Emerg Med 2011; 41: 366–368.
Google Scholar | Crossref | Medline31. Evans, AS, Nassif, RG, Ah-See, KW. Spontaneous apical lung herniation presenting as a neck lump in a patient with Ehlers-Danlos syndrome. Surgeon 2005; 3: 49–51.
Google Scholar | Crossref | Medline32. Molderings, GJ, Brettner, S, Homann, J, et al. Mast cell activation disease: a concise practical guide for diagnostic workup and therapeutic options. J Hematol Oncol 2011; 4: 10.
Google Scholar | Crossref | Medline33. George, SM, Vandersteen, A, Nigar, E, et al. Two patients with Ehlers-Danlos syndrome type VIII with unexpected hoarseness. Clin Exp Dermatol 2016; 41: 771–774.
Google Scholar | Crossref | Medline34. Guiraudet, P, Morel, S, Dhouib, F, et al. Subglottic tracheal stenosis associated with Ehlers-Danlos syndrome, hypermobilty type. Respir Med Res 2019; 76: 19–21.
Google Scholar | Medline35. Global Initiative for Asthma website . https://ginasthma.org/gina-reports/ (2021, accessed 7 February 2021).
Google Scholar36. Francisco, CO, Bhatawadekar, SA, Babineau, J, et al. Effects of physical exercise training on nocturnal symptoms in asthma: systematic review. PLoS One 2018; 13: e0204953.
Google Scholar | Crossref | Medline37. Kohn, A, Chang, C. The Relationship between hypermobile Ehlers-Danlos syndrome (hEDS), postural orthostatic tachycardia syndrome (POTS), and mast cell activation syndrome (MCAS). Clin Rev Allergy Immunol 2020; 58: 273–297.
Google Scholar | Crossref | Medline38. Seneviratne, SL, Maitland, A, Afrin, LB. Response to: “In reply to: ‘Mast cell disorders in Ehlers-Danlos syndrome’ (Jaime Vengoechea, Department of Human Genetics, Emory University)”. Am J Med Genet A 2018; 176: 251–252.
Google Scholar | Crossref | Medline39. Arulanandam, S, Hakim, AJ, Aziz, Q, et al. Laryngological presentations of Ehlers-Danlos syndrome: case series of nine patients from two London tertiary referral centres. Clin Otolaryngol 2017; 42: 860–863.
Google Scholar | Crossref | Medline40. Hunter, A, Morgan, AW, Bird, HA. A survey of Ehlers-Danlos syndrome: hearing, voice, speech and swallowing difficulties. Is there an underlying relationship? Br J Rheumatol 1998; 37: 803–804.
Google Scholar | Crossref | Medline41. Chatzoudis, D, Kelly, TJ, Lancaster, J, et al. Upper airway obstruction in a patient with Ehlers-Danlos syndrome. Ann R Coll Surg Engl 2015; 97: e50–e51.
Google Scholar | Crossref | Medline42. Gaisl, T, Giunta, C, Bratton, DJ, et al. Obstructive sleep apnoea and quality of life in Ehlers-Danlos syndrome: a parallel cohort study. Thorax 2017; 72: 729–735.
Google Scholar | Crossref | Medline43. Sedky, K, Gaisl, T, Bennett, DS. Prevalence of obstructive sleep apnea in joint hypermobility syndrome: a systematic review and meta-analysis. J Clin Sleep Med 2019; 15: 293–299.
Google Scholar | Crossref | Medline44. Young, T, Skatrud, J, Peppard, PE. Risk factors for obstructive sleep apnea in adults. JAMA 2004; 291: 2013–2016.
Google Scholar | Crossref | Medline | ISI45. Brady, AF, Demirdas, S, Fournel-Gigleux, S, et al. The Ehlers-Danlos syndromes, rare types. Am J Med Genet C Semin Med Genet 2017; 175: 70–115.
Google Scholar | Crossref | Medline46. Herrejon Silvestre, A, Inchaurraga Alvarez, I, Marin Gonzalez, M. [Spontaneous pneumothorax associated with the use of nighttime BiPAP with a nasal mask]. Arch Bronconeumol 1998; 34: 512.
Google Scholar | Medline47. Rajdev, K, Idiculla, PS, Sharma, S, et al. Recurrent pneumothorax with CPAP therapy for obstructive sleep apnea. Case Rep Pulmonol 2020; 2020: 8898621.
Google Scholar | Medline48. Ayres, J, Rees, J, Cochrane, GM. Haemoptysis and non-organic upper airways obstruction in a patient with previously undiagnosed Ehlers-Danlos syndrome. Br J Dis Chest 1981; 75: 309–310.
Google Scholar | Crossref | Medline49. Gu, G, Yang, H, Cui, L, et al. Vascular Ehlers-Danlos syndrome with a novel missense COL3A1 mutation present with pulmonary complications and iliac arterial dissection. Vasc Endovascular Surg 2018; 52: 138–142.
Google Scholar | SAGE Journals | ISI50. Shalhub, S, Neptune, E, Sanchez, DE, et al. Spontaneous pneumothorax and hemothorax frequently precede the arterial and intestinal complications of vascular Ehlers-Danlos syndrome. Am J Med Genet A 2019; 179: 797–802.
Google Scholar | Crossref | Medline51. Clark, JG, Kuhn, C,, Uitto, J. Lung collagen in type IV Ehlers-Danlos syndrome: ultrastructural and biochemical studies. Am Rev Respir Dis 1980; 122: 971–978.