Ehlers–Danlos Syndrome—Hypermobility Type: A Much Neglected Multisystemic Disorder

Gazit, Yael; Jacob, Giris; Grahame, Rodney

doi:10.5041/rmmj.10261

Cited by 76 publications

(58 citation statements)

References 76 publications

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“…Children are often not believed by practitioners about their pain much less their joint hypermobility [Gazit et al, ]. While it may be acute and musculoskeletal, many also present with more recurring or chronic pain [Cattalini et al, ; Stern et al, ].…”

Section: Literature Reviewmentioning

confidence: 99%

Pain management in the Ehlers–Danlos syndromes

Chopra¹,

Tinkle²,

Hamonet³

et al. 2017

American J of Med Genetics Pt C

147

172

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Chronic pain in the Ehlers–Danlos syndromes (EDS) is common and may be severe. According to one study, nearly 90% of patients report some form of chronic pain. Pain, which is often one of the first symptoms to occur, may be widespread or localized to one region such as an arm or a leg. Studies on treatment modalities are few and insufficient to guide management. The following is a discussion of the evidence regarding the underlying mechanisms of pain in EDS. The causes of pain in this condition are multifactorial and include joint subluxations and dislocations, previous surgery, muscle weakness, proprioceptive disorders, and vertebral instability. Affected persons may also present with generalized body pain, fatigue, headaches, gastrointestinal pain, temporomandibular joint pain, dysmenorrhea, and vulvodynia. Pain management strategies may be focused around treating the cause of the pain (e.g., dislocation of a joint, proprioceptive disorder) and minimizing the sensation of pain. Management strategies for chronic pain in EDS includes physical therapy, medications, as well as durable medical equipment such as cushions, compressive garments, and braces. The different modalities are discussed in this paper. © 2017 Wiley Periodicals, Inc.

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Section: Literature Reviewmentioning

confidence: 99%

Pain management in the Ehlers–Danlos syndromes

Chopra¹,

Tinkle²,

Hamonet³

et al. 2017

American J of Med Genetics Pt C

147

172

View full text Add to dashboard Cite

show abstract

“…Ehlers-Danlos syndrome-hypermobility type (EDS-HT) is considered the most common and least severe of the EDS subtypes [2]. Affected individuals have hypermobile joints with arthralgia, myalgia, arthritis, and joint instability.…”

Section: Introductionmentioning

confidence: 99%

Superior Semicircular Canal Dehiscence in a Patient with Ehlers-Danlos Syndrome: A Case Report

Chung¹,

Lagman²,

Nagasawa³

et al. 2017

Cureus

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Superior semicircular canal dehiscence (SSCD) is a bony defect in the middle cranial fossa floor that results in an abnormal connection between the inner ear and cranial vault. Although the etiology of SSCD remains unclear, an inappropriately thin or fragile temporal bone likely predisposes an individual towards developing SSCD. Ehlers-Danlos syndrome (EDS) constitutes a group of genetic connective tissue disorders caused by a defect in the production, processing, or structure of collagen, or its associated proteins. The possible association between SSCD and EDS has not been previously described in the literature. We herein report a case of a 50-year-old female with EDS-hypermobility type who presented with a 15-year history of migraines, vertigo, and tinnitus. The patient was subsequently diagnosed with bilateral SSCD and underwent a right middle fossa (pre-auricular infratemporal) craniotomy for SSCD repair. She reported significant improvement in her auditory and vestibular symptoms, with the exception of continued mild dizziness and disequilibrium at the 3-month follow-up. Due to the rare reports of auditory symptoms in EDS, this case study highlights the importance of considering an otological consultation for auditory manifestations in a patient with EDS and illustrates a potential association between EDS and SSCD.

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“…Another commonly associated pathology is Ehlers-Danlos syndrome (EDS) characterised by fragility and rupture of arteries, intestines and uterus (20). Vascular EDS (type IV, OMIM# 130050) has the worst prognosis of all EDS types due to vascular complications with type III collagen dysfunction.…”

Section: Genetic Syndromes and Taadmentioning

confidence: 99%

The genetics and biomechanics of thoracic aortic diseases

Harky

Fan

2019

Vascular Biology

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Thoracic aortic aneurysms and aortic dissections (TAAD) are highly fatal emergencies within cardiothoracic surgery. With increasing age, thoracic aneurysms become more prevalent and pose an even greater threat when they develop into aortic dissections. Both diseases are multifactorial and are influenced by a multitude of physiological and biomechanical processes. Structural stability of aorta can be disrupted by genes, such as those for extracellular matrix and contractile protein, as well as telomere dysfunction, which leads to senescence of smooth muscle and endothelial cells. Biomechanical changes such as increased luminal pressure imposed by hypertension are also very prevalent and lead to structural instability. Furthermore, ageing is associated with a pro-inflammatory state that exacerbates degeneration of vessel wall, facilitating the development of both aortic aneurysms and aortic dissection. This literature review provides an overview of the aetiology and pathophysiology of both thoracic aneurysms and aortic dissections. With an improved understanding, new therapeutic targets may eventually be identified to facilitate treatment and prevention of these diseases.

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Ehlers–Danlos Syndrome—Hypermobility Type: A Much Neglected Multisystemic Disorder

Cited by 76 publications

References 76 publications

Pain management in the Ehlers–Danlos syndromes

Pain management in the Ehlers–Danlos syndromes

Superior Semicircular Canal Dehiscence in a Patient with Ehlers-Danlos Syndrome: A Case Report

The genetics and biomechanics of thoracic aortic diseases

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