Chohan K, Mittal N, McGillis L et al. A review of respiratory manifestations and their management in Ehlers-Danlos syndromes and hypermobility spectrum disorders. Chronic Respiratory Disease. 2021; 18: 1-14. doi: 10.1177/14799731211025313
The correct list of references for this article can be found below:
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
2. Callewaert B, Malfait F, Loeys B, et al. Ehlers-Danlos syndromes and Marfan syndrome. Best Pract Res Clin Rheumatol 2008; 22:165-189
3. 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
4. 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
5. 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
6. 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
7. 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
8. 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
9. 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
10. Castori M, Hakim A. Contemporary approach to joint hypermobility and related disorders. Curr Opin Pediatr 2017; 29:640-649
11. Yost BA, Vogelsang JP, Lie JT. Fatal hemoptysis in Ehlers-Danlos syndrome. Old malady with a new curse. Chest 1995; 107:1465-1467
12. Herman TE, McAlister WH. Cavitary pulmonary lesions in type IV Ehlers-Danlos syndrome. Pediatr Radiol 1994; 24:263-265
13. 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
14. 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
15. 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
16. Gazit Y, Nahir AM, Grahame R, et al. Dysautonomia in the joint hypermobility syndrome. Am J Med 2003; 115:33-40
17. Simmonds JV, Keer RJ. Hypermobility and the hypermobility syndrome, part 2: assessment and management of hypermobility syndrome: illustrated via case studies. Man Ther 2008; 13:e1-11
18. Reuter PR, Fichthorn KR. Prevalence of generalized joint hypermobility, musculoskeletal injuries, and chronic musculoskeletal pain among American university students. PeerJ 2019; 7:e7625
19. Brissot R, Amoretti R, Ducret L, Hamonet C. (2020) Ehlers-Danlos and respiratory function. Clinical data on a cohort of 5,700 patients: oxygen therapy and physical rehabilitation medicine (P.R.M.). J Neuroscience and Neurological Surgery. 6(3).
20. Bestall JC, Paul EA, Garrod R, et al. Usefulness of the Medical Research Council (MRC) dyspnoea scale as a measure of disability in patients with chronic obstructive pulmonary disease. Thorax 1999; 54:581-586
21. Borg GA. Psychophysical bases of perceived exertion. Med Sci Sports Exerc 1982; 14:377-381
22. Rombaut L, Malfait F, De Wandele I, et al. Muscle mass, muscle strength, functional performance, and physical impairment in women with the hypermobility type of Ehlers-Danlos syndrome. Arthritis Care Res (Hoboken) 2012; 64:1584-1592
23. To M, Strutton PH, Alexander CM. Central fatigue is greater than peripheral fatigue in people with joint hypermobility syndrome. J Electromyogr Kinesiol 2019; 48:197-204
24. Ries AL. Minimally clinically important difference for the UCSD Shortness of Breath Questionnaire, Borg Scale, and Visual Analog Scale. COPD 2005; 2:105-110
25. Jones PW, Quirk FH, Baveystock CM, et al. A self-complete measure of health status for chronic airflow limitation. The St. George's Respiratory Questionnaire. Am Rev Respir Dis 1992; 145:1321-1327
26. Jones PW. Quality of life, symptoms and pulmonary function in asthma: long-term treatment with nedocromil sodium examined in a controlled multicentre trial. Nedocromil Sodium Quality of Life Study Group. Eur Respir J 1994; 7:55-62
27. Eriksen HR, Ihlebaek C, Ursin H. A scoring system for subjective health complaints (SHC). Scand J Public Health 1999; 27:63-72
28. Hope L, Juul-Kristensen B, Lovaas H, et al. Subjective health complaints and illness perception amongst adults with Joint Hypermobility Syndrome/Ehlers-Danlos Syndrome-HypermobilityType - a cross-sectional study. Disabil Rehabil 2019; 41:333-340
29. Johns MW. A new method for measuring daytime sleepiness: the Epworth sleepiness scale. Sleep 1991; 14:540-545
30. 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
31. Moss C, Fernandez-Mendoza J, Schubart J, et al. 0924 Nighttime Sleep and Daytime Functioning in Ehlers-Danlos Syndrome: A Cohort Study of Syndrome Subtypes. Sleep. 2018;41:A343
32. Patel S, Kon SSC, Nolan CM, et al. The Epworth Sleepiness Scale: Minimum Clinically Important Difference in Obstructive Sleep Apnea. Am J Respir Crit Care Med 2018; 197:961-963
33. Lahousse L, Seys LJM, Joos GF, et al. Epidemiology and impact of chronic bronchitis in chronic obstructive pulmonary disease. Eur Respir J 2017; 50
34. 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
35. Gaude GS. Pulmonary manifestations of gastroesophageal reflux disease. Ann Thorac Med 2009; 4:115-123
36. Sylvester DC, Karkos PD, Vaughan C, et al. Chronic cough, reflux, postnasal drip syndrome, and the otolaryngologist. Int J Otolaryngol 2012; 2012:564852
37. Dupuy EG, Leconte P, Vlamynck E, et al. Ehlers-Danlos Syndrome, Hypermobility Type: Impact of Somatosensory Orthoses on Postural Control (A Pilot Study). Front Hum Neurosci 2017; 11:283
38. Cutsforth-Gregory JK, Sandroni P. Clinical neurophysiology of postural tachycardia syndrome. Handb Clin Neurol 2019; 161:429-445
39. 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
40. 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
41. O'Neill S, Sweeney J, Walker F, et al. Pneumothorax in the Ehlers-Danlos syndrome. Ir J Med Sci 1981; 150:43-44
42. Alvarez K, Jordi L, Jose Angel H. Hemothorax in vascular Ehlers-Danlos syndrome. Reumatol Clin 2019; 15:e128-e129
43. 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
44. 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
45. 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
46. Amin R, Waibel BH. Spontaneous Diaphragmatic Rupture in Hypermobile Type Ehlers-Danlos Syndrome. Case Rep Surg 2017; 2017:2081725
47. Wesley JR, Mahour H, Woolley MM. Multiple surgical problems in two patients with Ehlers-Danlos syndrome. Surgery 1980; 87:319-324
48. Levine M, Adler J. Acute diaphragmatic rupture in a patient with Ehlers-Danlos syndrome. J Emerg Med 2011; 41:366-368
49. 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
50. 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
51. Seneviratne SL, Maitland A, Afrin L. Mast cell disorders in Ehlers-Danlos syndrome. Am J Med Genet C Semin Med Genet 2017; 175:226-236
52. 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
53. 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
54. Global Initiative for Asthma website: https://ginasthma.org/gina-reports/(last accessed February 7, 2021).
55. 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
56. 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
57. 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
58. 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
59. 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
60. 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:e50-51
61. 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
62. 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
63. Young T, Skatrud J, Peppard PE. Risk factors for obstructive sleep apnea in adults. JAMA 2004; 291:2013-2016
64. 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
65. 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
66. Rajdev K, Idiculla PS, Sharma S, et al. Recurrent Pneumothorax with CPAP Therapy for Obstructive Sleep Apnea. Case Rep Pulmonol 2020; 2020:8898621
67. 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
68. 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
69. 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
70. Clark JG, Kuhn C, 3rd, Uitto J. Lung collagen in type IV Ehlers-Danlos syndrome: ultrastructural and biochemical studies. Am Rev Respir Dis 1980; 122:971-978
71. Ishiguro T, Takayanagi N, Kawabata Y, et al. Ehlers-Danlos syndrome with recurrent spontaneous pneumothoraces and cavitary lesion on chest X-ray as the initial complications. Intern Med 2009; 48:717-722
72. Ruggeri P, Calcaterra S, Girbino G. Bullous emphysema as first presentation of Ehlers-Danlos syndrome in monozygotic twins. Respir Med Case Rep 2015; 14:40-42
73. Safdar Z, O'Sullivan M, Shapiro JM. Emergent bullectomy for acute respiratory failure in Ehlers-Danlos syndrome. J Intensive Care Med 2004; 19:349-351
74. Dowton SB, Pincott S, Demmer L. Respiratory complications of Ehlers-Danlos syndrome type IV. Clin Genet 1996; 50:510-514
75. Nawarskas JJ, Cheng-Lai A, Frishman WH. Celiprolol: A Unique Selective Adrenoceptor Modulator. Cardiol Rev 2017; 25:247-253
76. Sakai K, Toda M, Kyoyama H, et al. Vascular Ehlers-Danlos Syndrome with a Novel Missense Mutation in COL3A1: A Man in His 50s with Aortic Dissection after Interventional Treatment for Hemothorax as the First Manifestation. Intern Med 2019; 58:3441-3447
77. Kawabata Y, Watanabe A, Yamaguchi S, et al. Pleuropulmonary pathology of vascular Ehlers-Danlos syndrome: spontaneous laceration, haematoma and fibrous nodules. Histopathology 2010; 56:944-950
78. Corrin B, Simpson CG, Fisher C. Fibrous pseudotumours and cyst formation in the lungs in Ehlers-Danlos syndrome. Histopathology 1990; 17:478-479
79. Deleon AC, Jr., Perloff JK, Twigg H, et al. The Straight Back Syndrome: Clinical Cardiovascular Manifestations. Circulation 1965; 32:193-203
80. Hamaoui K, Riaz A, Hay A, et al. Massive spontaneous diaphragmatic rupture in Ehlers-Danlos syndrome. Ann R Coll Surg Engl 2012; 94:e5-7
81. Koumbourlis AC. Scoliosis and the respiratory system. Paediatr Respir Rev 2006; 7:152-160
82. Duruturk N, Acar M, Dogrul MI. Effect of Inspiratory Muscle Training in the Management of Patients With Asthma: A RANDOMIZED CONTROLLED TRIAL. J Cardiopulm Rehabil Prev 2018; 38:198-203
83. Charususin N, Gosselink R, Decramer M, et al. Randomised controlled trial of adjunctive inspiratory muscle training for patients with COPD. Thorax 2018; 73:942-950
84. Girotto JA, Malaisrie SC, Bulkely G, et al. Recurrent ventral herniation in Ehlers-Danlos syndrome. Plast Reconstr Surg 2000; 106:1520-1526
85. Nelson AD, Mouchli MA, Valentin N, et al. Ehlers Danlos syndrome and gastrointestinal manifestations: a 20-year experience at Mayo Clinic. Neurogastroenterol Motil 2015; 27:1657-1666
86. Asher SB, Chen R, Kallish S. Mitral valve prolapse and aortic root dilation in adults with hypermobile Ehlers-Danlos syndrome and related disorders. Am J Med Genet A 2018; 176:1838-1844
87. McDonnell NB, Gorman BL, Mandel KW, et al. Echocardiographic findings in classical and hypermobile Ehlers-Danlos syndromes. Am J Med Genet A 2006; 140:129-136
88. Hakimi A, Bergoin C, Mucci P. Immediate and 6-week after effects of a rehabilitation program for Ehlers-Danlos syndrome hypermobile type patients: A retrospective study. Am J Med Genet A 2020; 182:2263-2271
89. Scheper M, Rombaut L, de Vries J, et al. The association between muscle strength and activity limitations in patients with the hypermobility type of Ehlers-Danlos syndrome: the impact of proprioception. Disabil Rehabil 2017; 39:1391-1397
90. Emergency Orphanet Website: https://www.orpha.net/data/patho/Pro/en/Emergency_Ehlers-DanlosTypeIV-enPro4042.pdf (last accessed March 11, 2021)
91. Ericson WB, Jr., Wolman R. Orthopaedic management of the Ehlers-Danlos syndromes. Am J Med Genet C Semin Med Genet 2017; 175:188-194
92. Bathen T, Hangmann AB, Hoff M, et al. Multidisciplinary treatment of disability in ehlers-danlos syndrome hypermobility type/hypermobility syndrome: A pilot study using a combination of physical and cognitive-behavioral therapy on 12 women. Am J Med Genet A 2013; 161A:3005-3011
93. Rombaut L, Malfait F, De Wandele I, et al. Medication, surgery, and physiotherapy among patients with the hypermobility type of Ehlers-Danlos syndrome. Arch Phys Med Rehabil 2011; 92:1106-1112
94. Ferrell WR, Tennant N, Sturrock RD, et al. Amelioration of symptoms by enhancement of proprioception in patients with joint hypermobility syndrome. Arthritis Rheum 2004; 50:3323-3328
95. Simmonds JV, Herbland A, Hakim A, et al. Exercise beliefs and behaviours of individuals with Joint Hypermobility syndrome/Ehlers-Danlos syndrome - hypermobility type. Disabil Rehabil 2019; 41:445-455
96. Haapasaari K, Rossi O, Risteli J, et al. Effects of long-term inhaled corticosteroids on skin collagen synthesis and thickness in asthmatic patients. Eur Respir J 1998; 11:139-143
97. Food and Drug Administration Review Website: https://www.fda.gov/drugs/drug-safety-and-availability/fda-warns-about-increased-risk-ruptures-or-tears-aorta-blood-vessel-fluoroquinolone-antibiotics (last accessed January 10, 2021).
98. Mattar SG, Kumar AG, Lumsden AB. Vascular complications in Ehlers-Danlos syndrome. Am Surg 1994; 60:827-831
99. Garcia Saez D, Mohite PN, Zych B, et al. Bilateral lung transplantation in a patient with Vascular Ehlers-Danlos syndrome. Ann Thorac Surg 2014; 97:1804-1806
100. Hakim A, O'Callaghan C, De Wandele I, et al. Cardiovascular autonomic dysfunction in Ehlers-Danlos syndrome-Hypermobile type. Am J Med Genet C Semin Med Genet 2017; 175:168-174
101. Castori M, Morlino S, Celletti C, et al. Management of pain and fatigue in the joint hypermobility syndrome (a.k.a. Ehlers-Danlos syndrome, hypermobility type): principles and proposal for a multidisciplinary approach. Am J Med Genet A 2012; 158A:2055-2070
The references and their citations have been updated in the online version of the article.