Dysautonomia in the joint hypermobility syndrome

Gazit, Yael; Nahir, A. M.; Grahame, Rodney; Jacob, Giris

doi:10.1016/s0002-9343(03)00235-3

Cited by 328 publications

(250 citation statements)

References 32 publications

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“…These symptoms are associated with known comorbidities and are classified as follows: (1) EhlersDanlos syndrome/joint hypermobility syndrome. Although the association between POTS and joint hypermobility syndrome or Ehlers-Danlos syndrome Type III (hypermobile type) is not completely explained, it has been well documented [7,10,18]. In a study by Gazit et al [7], 80% of patients with joint hypermobility syndrome displayed symptoms of dysautonomia with orthostatic hypotension or POTS.…”

Section: Discussionmentioning

confidence: 99%

Postural Orthostatic Tachycardia Syndrome (POTS): Association with Ehlers-Danlos Syndrome and Orthopaedic Considerations

Grigoriou

Boris

Dormans

2015

Clinical Orthopaedics &Amp; Related Research

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Background Postural orthostatic tachycardia syndrome (POTS) is the most common of several types of dysautonomia, characterized by dysfunction of the autonomic nervous system manifesting with symptoms of orthostatic intolerance with or without associated orthostatic hypotension and excessive autonomic excitation. Given the numerous presenting musculoskeletal symptoms of POTS and its known associations with other clinical entities like Ehlers-Danlos syndrome, POTS constitutes an unusual treatment challenge of which the orthopaedic surgeon and other related healthcare providers should be aware. Case Description We describe two patients with a diagnosis of POTS and musculoskeletal manifestations. The first is a 13-year-old boy with a concurrent diagnosis of Ehlers-Danlos syndrome and worsening back pain. The patient had resolution of his musculoskeletal symptoms after treatment with a Boston Overlap LSO brace and physical therapy and resolution of his cardiovascular symptoms after pharmacologic treatment. The second patient is a 17-year-old girl with an L1 vertebral hemangioma and pain of sudden onset radiating to her lower extremities. Her symptoms were controlled with therapy and gabapentin. Literature Review POTS is a poorly understood and controversial clinical entity with lack of awareness and knowledge regarding the syndrome by the majority of medical specialists. Its complex and wide range of clinical presentation has led to being commonly mistaken with malingering, depression and anxiety disorders. Review of the literature did not yield any previous studies addressing POTS and the special considerations for the orthopaedic surgeon caring for these patients; previous studies of large patient series focus on investigating the pathologic substrate of POTS and the efficacy of various treatment modalities on the cardiovascular dysregulation. Clinical Relevance These two cases show that understanding and knowledge of this syndrome and its comorbidities should guide any diagnostic approach or therapeutic intervention by the orthopaedic surgeon caring for patients with this syndrome. It is important that the surgeon is aware of the benefits of detailed patient education and physical conditioning, the increased perioperative complications, and the need for specialized anesthesia.

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Section: Discussionmentioning

confidence: 99%

Postural Orthostatic Tachycardia Syndrome (POTS): Association with Ehlers-Danlos Syndrome and Orthopaedic Considerations

Grigoriou

Boris

Dormans

2015

Clinical Orthopaedics &Amp; Related Research

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“…Rowe et al (44) reported orthostatic intolerance and chronic fatigue syndrome associated with EDS. Gazit et al studied 48 JHS patients and 30 controls and found orthostatic hypotension and postural orthostatic tachycardia syndrome in 78% of the JHS patients and 10% of the controls (45). It is important to detect dysautonomia, since it appears frequently in these patients, is very distressing, produces bad quality of life (hypotension, dizziness, chronic fatigue), and is amenable to treatment.…”

Section: Discussionmentioning

confidence: 99%

Clinical study of hereditary disorders of connective tissues in a Chilean population

Bravo¹,

Wolff²

2006

Arthritis & Rheumatism

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Objective. To demonstrate the high frequency and lack of diagnosis of joint hypermobility syndrome (JHS) and the seriousness of vascular Ehlers-Danlos syndrome (VEDS).Methods. Two hundred forty-nine Chilean patients with hereditary disorders of the connective tissues (CTDs) and 64 control subjects were evaluated for the diagnoses of JHS and VEDS using the validated Brighton criteria, as compared with the traditional Beighton score. In addition, the presence of blue sclera was determined, with the degree of intensity graded as mild, moderate, or marked.Results. The frequency of hereditary CTDs was 35%, with diagnoses of JHS in 92.4% of subjects, VEDS in 7.2%, and osteogenesis imperfecta in 0.4%. The Beighton score proved to be insufficient for the diagnosis of JHS (35% of subjects had a negative score), whereas the Brighton criteria yielded positive findings (a diagnosis of JHS) in 39% of control subjects. Blue sclera was frequent, being identified in 97% of JHS patients and 94% of VEDS patients. Moderate osteopenia/osteoporosis was observed in 50% of patients with VEDS and 26% of those with JHS. Dysautonomia, dyslipidemia, and scoliosis were more frequent in VEDS patients than in JHS patients. The typical JHS facial appearance and the "hand holding the head sign" were identified. Raynaud's phenomenon was extremely rare in JHS patients (2%). Ruptured uterus and cerebral aneurysm occurred in 12% and 6% of VEDS patients, respectively. Spontaneous pneumothorax was more frequent in VEDS patients (11%) than in JHS patients (0.9%).Conclusion. JHS is very frequent but usually undiagnosed. The Beighton score is an insufficient method for JHS diagnosis. We recommend that physicians learn to recognize the typical facial features of JHS and be able to identify blue sclera. We also propose that validated hypermobility criteria be routinely used. Further research is needed to determine why the prevalence of JHS is so high in Chile.Hippocrates first described hypermobile joints 2,400 years ago, but the condition of joint hypermobility was not described as a medical problem until 1967, by Kirk et al (1). Although many people have hypermobile joints, the general public as well as many physicians consider hypermobility to be a curiosity rather than a potentially serious medical problem (2,3). The prevalence of hypermobility is difficult to evaluate because it varies with age, sex, and ethnic background and because multiple criteria are being used. It is more frequent in female subjects and children, is more frequent in Asian than in black populations, and is more frequent in both Asian and black populations than in whites. It is generally agreed that it exists in ϳ10% of individuals in Western populations (4) and up to 25% in Iraqis (5). Most cases of joint hypermobility are pauciarticular rather than generalized, which makes the diagnosis more difficult. Because of this, many people are unaware of having lax joints (6). In spite of this laxity in the joints, most people with hypermobility do not experience joint or musculoskelet...

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“…Patients with CFS have a high prevalence of abnormal responses to orthostatic stress, resulting in dizziness, fatigue, cognitive difficulties, and syncope, suggesting autonomic dysregulation (15,16). These extraarticular symptoms also occur more frequently in patients with BJHS/EDS as compared with healthy controls (3,17). The orthostatic hypotension, positional orthostatic tachycardia syndrome, and orthostatic intolerance encountered may be associated with exaggerated blood pooling in the lower extremities, suggesting that blood vessel abnormalities exist in these patients.…”

Section: Introductionmentioning

confidence: 99%

“…Recently, a relationship has been shown between blood pressure and joint stiffness, with lower diastolic blood pressure associated with increased mobility of the joints (18). In addition, autonomic dysregulation could possibly explain the strong association of joint hypermobility and panic disorder (17,(19)(20)(21).…”

Section: Introductionmentioning

confidence: 99%

Joint hypermobility syndromes: The pathophysiologic role of tenascin‐X gene defects

Zweers¹,

Hakim²,

Grahame³

et al. 2004

Arthritis & Rheumatism

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Dysautonomia in the joint hypermobility syndrome

Cited by 328 publications

References 32 publications

Postural Orthostatic Tachycardia Syndrome (POTS): Association with Ehlers-Danlos Syndrome and Orthopaedic Considerations

Postural Orthostatic Tachycardia Syndrome (POTS): Association with Ehlers-Danlos Syndrome and Orthopaedic Considerations

Clinical study of hereditary disorders of connective tissues in a Chilean population

Joint hypermobility syndromes: The pathophysiologic role of tenascin‐X gene defects

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