scholarly journals Pain Symptomatology and Management in Pediatric Ehlers–Danlos Syndrome: A Review

Children ◽  
2020 ◽  
Vol 7 (9) ◽  
pp. 146
Author(s):  
Estée C. H. Feldman ◽  
Daniel P. Hivick ◽  
P. Maxwell Slepian ◽  
Susan T. Tran ◽  
Pradeep Chopra ◽  
...  
Keyword(s):  
Quality Of Life ◽  
Psychological Interventions ◽  
Pediatric Pain ◽  
Connective Tissue Disorders ◽  
Ehlers Danlos Syndrome ◽  
Major Criterion ◽  
Pain Characteristics ◽  
The Relationship ◽  
Danlos Syndrome

Ehlers–Danlos syndromes (EDS) are a group of connective tissue disorders that manifest with hyperextensibility of joints and skin, and general tissue fragility. While not a major criterion for clinical diagnosis, pain is a frequently endorsed symptom across subtypes of EDS. As such, the present review aims to summarize research to date on pain characteristics and management, and the relationship between such pain symptomatology and quality of life in pediatric EDS. Characteristics of pain, including theorized etiology, relative intensity and extent of pain are described, as well as descriptions of frequently endorsed pain sites (musculoskeletal, and non-musculoskeletal). Interventions related to the management of musculoskeletal (e.g., pharmaceutical intervention, physical therapy) and non-musculoskeletal pain (e.g., pharmaceutical and psychological interventions) are discussed, highlighting the need for additional research related to pediatric pain management in the context of hypermobility syndromes. In addition, the relationship between pain in pediatric EDS and quality of life is described. Finally, limitations of literature to date are described and recommendations for future lines of research are outlined.

scholarly journals Recurrent swelling and pain in the abdomen and joints in a patient with hereditary angioedema and Ehlers-Danlos syndrome

2019 ◽  
Vol 12 (11) ◽  
pp. e231484
Author(s):  
My-Trang Thi Dang ◽  
Andrew Ambort ◽  
Annie Arrey-Mensah
Keyword(s):  
Quality Of Life ◽  
Hereditary Angioedema ◽  
Healthcare Providers ◽  
Pain Syndrome ◽  
Well Being ◽  
Type I ◽  
Ehlers Danlos Syndrome ◽  
Complex Disorders ◽  
Danlos Syndrome

A 23-year-old woman was referred to the allergy and immunology clinic for recurrent abdominal, cutaneous and joint swelling and pain with a history of mucosal infections since childhood. Her history and clinical findings were suggestive of two rare and complex disorders, hereditary angioedema (HAE) and Ehlers-Danlos syndrome (EDS). Her recurrent episodes of abdominal and joint pain were initially misattributed to more common diagnoses such as esophagitis, depression and chronic pain syndrome. However, the coexistence of HAE and EDS likely contributed to a delay in diagnoses as the combination of these two rare but overlapping disorders is less understood by physicians. She had persistently low levels of C4 and C1-esterase inhibitor (C1-INH) with low to low-normal C1-esterase function, normal C1Q and no C1Q antibodies. In the setting of recurrent abdominal pain with cutaneous swelling, this supported the diagnosis of HAE type I. The increase in joint extensibility with recurrent shoulder subluxations since childhood was a manifestation of EDS. Although no known genetic mutations were identified for EDS, her diagnosis was confirmed by a geneticist based on her clinical phenotype. Before the diagnosis of HAE and EDS, our patient had at least 100 visits/year to the emergency department/hospitalisations for these recurrent symptoms. After starting on C1-INH replacement therapy, the frequency has decreased 10-fold. She also noted a 70% improvement in her quality of life. Familiarity with these rare disorders will assist healthcare providers in recognising HAE and EDS and include them as part of their differential diagnoses. Early diagnosis is important for a patient’s well-being as both these chronic disorders have been associated with poor quality of life. Additionally, proper diagnoses will reduce healthcare costs by preventing unnecessary procedures due to misdiagnoses. Proper treatment will help to decrease hospitalisations and avoidance of life-threatening consequences (such as asphyxiation from fatal laryngeal attacks of HAE and rupture of aneurysms in EDS).

Ehlers-Danlos Syndrome in a bitch – case report

2021 ◽  
Vol XXVI (155) ◽  
pp. 26-30
Author(s):  
Naima J. dos S. Marciano ◽  
Camila Sabaudo Alves ◽  
Paulo Sérgio Salzo ◽  
Marcelo B. Contieri
Keyword(s):  
Quality Of Life ◽  
Environmental Management ◽  
Genetic Disorder ◽  
Ehlers Danlos Syndrome ◽  
History Of ◽  
Histopathological Studies ◽  
Index Value ◽  
Danlos Syndrome ◽  
Skin Samples

Ehlers-Danlos syndrome, cutaneous asthenia or dermatosparaxis, is a rare genetic disorder that causes alterations in the synthesis of collagen fibers, resulting in hyperextensibility and dermal fragility. This paper reports the case of a nine-year-old bitch, of no defined breed. The diagnosis was obtained by the history of the animal and clinical examination. The cutaneous extensibility test resulted in an index value of 23.5% extensibility, higher than the normal value for canines (14.5%). To confirm the diagnosis, skin samples were taken for histopathological studies. For this syndrome, treatment is palliative, prioritizing the quality of life of the animal and environmental management.

scholarly journals Custom-Made Foot Orthoses Reduce Pain and Fatigue in Patients with Ehlers-Danlos Syndrome. A Pilot Study

2020 ◽  
Vol 17 (4) ◽  
pp. 1359 ◽  
Author(s):  
María Reina-Bueno ◽  
Carmen Vázquez-Bautista ◽  
Inmaculada C. Palomo-Toucedo ◽  
Gabriel Domínguez-Maldonado ◽  
José Manuel Castillo-López ◽  
...  
Keyword(s):  
Quality Of Life ◽  
Foot Orthoses ◽  
Foot Pain ◽  
Health Related Quality ◽  
Ehlers Danlos Syndrome ◽  
Custom Made ◽  
Related Quality ◽  
Health Related ◽  
Danlos Syndrome

Background: Pain and fatigue are major clinical manifestations in patients with Ehlers-Danlos Syndrome (EDS). The aim of this study is to measure change of the effects of custom-made foot orthotics on some manifestations related to EDS, such as foot pain, foot functionality, fatigue, and quality of life. Methods: Thirty-six patients with EDS wore foot orthoses for three months. Foot pain, foot-related disability, foot functionality, fatigue, and quality of life were measured using the 11-point Numeric Rating Scale, the Manchester Foot Pain and Disability Index, the Foot Function Index, the Fatigue Severity Score, and the 12-Item Short Form Health Survey questionnaires, respectively, at the beginning and after 3 months. Results: Participants demonstrated significantly improved foot pain (p = 0.002), disability related to foot pain (p < 0.001), foot functionality (p = 0.001), fatigue (p < 0.007), and mental health-related quality of life (p = 0.016). The physical health-related quality of life did not show significant changes. Conclusions: The use of custom-made foot orthoses help in the management of the symptoms by participants. This study could contribute to the foot specialists being considered as an additional member in multidisciplinary teams that are trying to develop an approach for patients with EDS.

scholarly journals An Exploration of Quality of Life among Ontario Postsecondary Students Living with the Chronic Illness Ehlers-Danlos Syndrome

2020 ◽  
Vol 11 (1) ◽  
Author(s):  
Catherine M. Giroux ◽  
Lorraine Carter ◽  
Julie Corkett
Keyword(s):  
Quality Of Life ◽  
Postsecondary Education ◽  
Connective Tissue Disorder ◽  
Postsecondary Students ◽  
Structured Interviews ◽  
Psychosocial Effects ◽  
Ehlers Danlos Syndrome ◽  
Permanent Disability ◽  
Danlos Syndrome

Ehlers-Danlos Syndrome (EDS) is a connective tissue disorder that results in negative health events. It also holds potential for periodic or permanent disability and psychosocial stress. While a diagnosis of EDS can occur at any age, the psychosocial effects of an EDS diagnosis can be especially challenging when symptoms present during postsecondary education. This qualitative study examined the psychosocial effects of EDS on the quality of life of Ontario postsecondary students (n=11). After a brief online eligibility survey, one-to-one semi-structured interviews were conducted. Thematic analysis of interview data revealed that emotional factors such as anxiety and depression, faculty and peer attitudes including issues of judgment and stigmatization, and feelings of frustration affect the quality of life of postsecondary students living with EDS.

scholarly journals Obstructive sleep apnoea and quality of life in Ehlers-Danlos syndrome: a parallel cohort study

Thorax ◽  
2017 ◽  
Vol 72 (8) ◽  
pp. 729-735 ◽  
Author(s):  
Thomas Gaisl ◽  
Cecilia Giunta ◽  
Daniel J Bratton ◽  
Kate Sutherland ◽  
Christian Schlatzer ◽  
...  
Keyword(s):  
Quality Of Life ◽  
Cohort Study ◽  
Obstructive Sleep Apnoea ◽  
Sleep Apnoea ◽  
Ehlers Danlos Syndrome ◽  
Obstructive Sleep ◽  
Danlos Syndrome

Enteroatmospheric fistula repair in Ehlers-Danlos syndrome type IV: a novel management technique using ABRA device

2020 ◽  
Vol 13 (9) ◽  
pp. e234670
Author(s):  
Omar Zubair ◽  
Kellee Slater
Keyword(s):  
Quality Of Life ◽  
Abdominal Wall ◽  
Poor Quality ◽  
Management Technique ◽  
Syndrome Type ◽  
Ehlers Danlos Syndrome ◽  
Type Iv ◽  
Enteroatmospheric Fistula ◽  
Danlos Syndrome

A 35-year-old man with Ehlers-Danlos syndrome type IV (EDS IV) underwent surgical repair of an enteroatmospheric fistula. Despite the substantially increased operative risk, repair was undertaken in view of his poor quality of life and severe nutritional deficits. Dense adhesions and extremely fragile bowel and vasculature characteristic of EDS IV were encountered intraoperatively. Multiple traction enterotomies and faecal matter leaking from suture holes necessitated leaving the abdomen open for a prolonged period. An Abdominal Reapproximation Anchor device was applied to prevent lateral retraction of the abdominal wall during this time. At relook on day 6, no leak was found, and the abdomen was closed. Two years postoperatively, the patient has an intact abdominal wall, with a vastly improved quality of life. This case illustrates the challenges of operating on patients with EDS IV, and presents a novel technique in managing fistulas in these patients.

scholarly journals Evaluation of Kinesiophobia and Its Correlations with Pain and Fatigue in Joint Hypermobility Syndrome/Ehlers-Danlos Syndrome Hypermobility Type

2013 ◽  
Vol 2013 ◽  
pp. 1-7 ◽  
Author(s):  
Claudia Celletti ◽  
Marco Castori ◽  
Giuseppe La Torre ◽  
Filippo Camerota
Keyword(s):  
Quality Of Life ◽  
Joint Hypermobility ◽  
Bivariate Analysis ◽  
Hypermobility Syndrome ◽  
Joint Hypermobility Syndrome ◽  
Cross Sectional ◽  
Ehlers Danlos Syndrome ◽  
The Impact ◽  
Danlos Syndrome

Ehlers-Danlos syndrome hypermobility type a. k. a. joint hypermobility syndrome (JHS/EDS-HT) is a hereditary musculoskeletal disorder associating generalized joint hypermobility with chronic pain. Anecdotal reports suggest a prominent role forkinesiophobiain disease manifestations, but no study has systematically addressed this point.Objective. To investigate the impact ofkinesiophobiaand its relationship with pain, fatigue, and quality of life in JHS/EDS-HT.Design. Cross-sectional study.Subjects/Patients. 42 patients (40 female and 2 male) with JHS/EDS-HT diagnosis following standardized diagnostic criteria were selected.Methods. Disease features were analyzed by means of specific questionnaires and scales evaluating kinesiophobia, pain, fatigue, and quality of life. The relationships among variables were investigated using the Spearman bivariate analysis.Results.Kinesiophobiaresulted predominantly in the patients’ sample. The values ofkinesiophobiadid not correlate with intensity of pain, quality of life, and (or) the single component of fatigue. A strong correlation was discovered betweenkinesiophobiaand general severity of fatigue.Conclusions. In JHS/EDS-HT, the onset of pain-avoiding strategies is related to the presence of pain but not to its intensity. The clear-cut correlation betweenkinesiophobiaand severity of fatigue suggests a direct link between musculoskeletal pain and fatigue. In JHS/EDS-HT, the underlying mechanism is likely to be facilitated by primary disease characteristics, including hypotonia.

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