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COMMENTARY
Year : 2017  |  Volume : 10  |  Issue : 2  |  Page : 179-180  

Joint hypermobility syndrome and dysautonomia


1 Department of Medicine, 5 Air force Hospital, Jorhat, Assam; Department of Medicine, Base Hospital Delhi, New Delhi, India
2 Department of Medicine, Base Hospital Delhi, New Delhi, India

Date of Web Publication14-Mar-2017

Correspondence Address:
Anil Kumar
Department of Medicine, 5 Air force Hospital, Jorhat, Assam; Department of Medicine, Base Hospital Delhi, New Delhi
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/0975-2870.202112

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How to cite this article:
Kumar A, Mahesh NK. Joint hypermobility syndrome and dysautonomia. Med J DY Patil Univ 2017;10:179-80

How to cite this URL:
Kumar A, Mahesh NK. Joint hypermobility syndrome and dysautonomia. Med J DY Patil Univ [serial online] 2017 [cited 2017 Nov 24];10:179-80. Available from: http://www.mjdrdypu.org/text.asp?2017/10/2/179/202112

Clinicians may not recognize associated subtle early presentations of the disease, till the disease has fully manifested itself. Of all the disorders of human body, autonomic syndromes are still the least understood. Presentation and association of autonomic diseases with other disorders may be so varied and subtle that clinicians may fail to recognize autonomic disturbance as an individual clinical entity within the disease and therefore appropriate management still remains inadequate. Similar association between joint hypermobility disorder, in which postural orthostatic tachycardia syndrome (POTS) and dysautonomia is increasingly being recognized as an associated clinical entity, has been further elaborated. POTS is a form of dysautonomia affecting predominantly young females, consisting of a constellation of symptoms with symptomatic orthostatic intolerance, and by definition, a change from supine to an upright position causes an increase in heart rate of more than 30 beats/min or to a heart rate >120 beats/min within 10 min of upright position.[1],[2] Symptoms may range from mild and occasional complaints to severely incapacitating disease and are commonly misdiagnosed as having chronic anxiety or panic disorder or chronic fatigue syndrome.[3] POTS is often accompanied by vasovagal syncope.[3]

Primary POTS is related to partial dysautonomia and hyperadrenergic state. The cause of primary POTS is not fully known. Reduced venous return during standing due to venous pooling or denervation causing low plasma volume may be responsible for a hyperadrenergic state resulting as the body attempts to compensate for these abnormalities. Family history of orthostatic intolerance suggests a genetic predisposition.[4] Adrenergic receptor dysfunction [5] with alpha 1 and beta receptor supersensitivity, hyperdopaminergic state,[6] and high free plasma norepinephrine levels have all been described with POTS. Secondary POTS is due to peripheral autonomic denervation. Commonly associated conditions are diabetes mellitus, amyloidosis, sarcoidosis, alcoholism, lupus, heavy metal intoxication, Sjogren's syndrome, and postchemotherapy. Pure dysautonomic syndromes due to sympathetic underactivity may have POTS as a presenting feature. POTS has also been associated with musculoskeletal disorders such as Ehlers–Danlos syndrome, Marfan syndrome, fibromyalgia, and joint hypermobility syndrome (JHS).

JHS was first described by Kirk et al. in 1967 to describe a disorder of generalized joint hypermobility and musculoskeletal pain.[5] The term benign has been used to distinguish this symptomatic, but not life threatening, disorder from diseases such as Marfan and Ehlers–Danlos syndrome. The prevalence of joint hypermobility varies from 10% to 30% and decreases with age.[7] Generalized hypermobility is thought to be a disorder of collagen that contributes to a loss of tensile strength and consequent increased fragility of involved tissues. As far as etiology of JHS is concerned, genetic predisposition (polygenic trait) is the most likely cause. Furthermore, mutations in the TNXB gene have been associated with hypermobility.[8] In addition to the skin and musculoskeletal manifestations, mitral valve prolapse and autonomic symptoms are commonly seen hypermobility. In addition to the skin and musculoskeletal manifestations, mitral valve prolapse and autonomic symptoms are commonly seen. Surprisingly, a large proportion of patients have significant neuromuscular and motor development problems in association with JHS.

In the current issue of this highlights, the importance of clinical association of dysautonomia with joint hypermobility seen in young patients.

There still remain some unanswered, but important, questions. How exactly are JHS and POTS associated? Is it related to genetic, hormonal, or environmental modification of the nervous system along with differences in musculoskeletal structure in patients that predispose to the above or is there a single cause of all these contiguous syndromes which we are yet to discover?

 
  References Top

1.
Grubb BP, Kosinski DJ, Boehm K, Kip K. The postural orthostatic tachycardia syndrome: A neurocardiogenic variant identified during head-up tilt table testing. Pacing Clin Electrophysiol 1997;20(9 Pt 1):2205-12.  Back to cited text no. 1
    
2.
Kanjwal Y, Kosinski D, Grubb BP. The postural orthostatic tachycardia syndrome: Definitions, diagnosis, and management. Pacing Clin Electrophysiol 2003;26:1747-57.  Back to cited text no. 2
    
3.
Karas B, Grubb BP, Boehm K, Kip K. The postural orthostatic tachycardia syndrome: A potentially treatable cause of chronic fatigue, exercise intolerance, and cognitive impairment in adolescents. Pacing Clin Electrophysiol 2000;23:344-51.  Back to cited text no. 3
    
4.
Thieben MJ, Sandroni P, Sletten DM, Benrud-Larson LM, Fealey RD, Vernino S, et al. Postural orthostatic tachycardia syndrome: The Mayo Clinic experience. Mayo Clin Proc 2007;82:308-13.  Back to cited text no. 4
    
5.
Kirk JA, Ansell BM, Bywaters EG. The hypermobility syndrome: Musculoskeletal complaints associated with generalized joint hypermobility. Ann Rheum Dis 1967;26:419-25.  Back to cited text no. 5
    
6.
Kuchel O, Buu NT, Hamet P, Larochelle P, Gutkowska J, Schiffrin EL, et al. Orthostatic hypotension: A posture-induced hyperdopaminergic state. Am J Med Sci 1985;289:3-11.  Back to cited text no. 6
    
7.
Raskin RJ, Lawless OJ. Articular and soft tissue abnormalities in a normal population. J Rheumatol 1982;9:284-8.  Back to cited text no. 7
    
8.
Zweers MC, Bristow J, Steijlen PM, Dean WB, Hamel BC, Otero M, et al. Haploinsufficiency of TNXB is associated with hypermobility type of Ehlers-Danlos syndrome. Am J Hum Genet 2003;73:214-7.  Back to cited text no. 8
    




 

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