Ehlers-Danlos Syndrome: It’s Not Your Normal Hoofbeats

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.

Section: Introductionmentioning

confidence: 99%

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

Reina-Bueno

Vázquez-Bautista

Palomo-Toucedo

et al. 2020

“…The clinical manifestations are very diverse between the different types of EDS and between patients with the same type. Clinical manifestations can occur in all systems of the body [5]. The observation of the presence of such manifestations should guide towards the initial diagnosis, followed by a study of the family history and collagen alterations.…”

Section: Introductionmentioning

confidence: 99%

“…This makes the differential diagnosis complicated as there are many conditions that must be considered. Among such conditions are (1) Hereditary connective tissue disorders that predispose to aneurysm formation and blood vessel fragility such as Loeys-Dietz syndrome, Marfan syndrome, and familial thoracic aortopathy conditions; (2) Diseases presenting with hematomas and predisposition to nonaccidental injuries or abnormal skin, including coagulation disorders, pseudoxanthoma elasticum, and cutis laxa; (3) Neuromuscular conditions related to collagen VI and XI disorders, such as Ullrich congenital muscular dystrophy and Bethlem myopathy; (4) Connective tissue disorders that present with a degree of joint hypermobility, such as skeletal dysplasias, osteogenesis imperfecta, chondrodysplasias, and Larsen syndrome; (5) Other specific genetic conditions such as Stickler syndrome, Noonan syndrome, and mucopolysaccharidosis. This complex differential diagnosis results in a situation where EDS is often not diagnosed or confirmed until advanced stages of the disease [6].…”

Section: Introductionmentioning

confidence: 99%

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Ehlers–Danlos Syndrome Type Arthrochalasia: A Systematic Review

Martín-Martín

Cortés-Martín

Tovar-Gálvez

et al. 2022

Ehlers–Danlos syndrome type arthrochalasia (aEDS) is a rare genetic disease characterized by severe generalized joint hypermobility, bilateral congenital hip dislocation, skin hyperextensibility, muscle hypotonia, and mild dysmorphic features. It is an autosomal dominant connective tissue disease causing defects in collagen, associated with two genes, COL1A1 or COL1A2. Only about 42 cases have been published worldwide. Treatment is currently symptomatic and focuses on increasing the quality of life of these patients, as there is no curative treatment. The main objective of the review was to update information on Ehlers–Danlos syndrome type arthrochalasia from scientific publications. The review report was carried out in accordance with the criteria of the Preferred Reporting Items for Systematic reviews and MetaAnalyses (PRISMA) review protocol, by searching Orphanet, OMIM, PubMed, and Scopus, as well as free sources. A total of 20 articles were analyzed, which, after analysis, provide an updated report that aims to establish a solid starting point for future lines of research.Ehlers–Danlos syndrome type arthrochalasia (aEDS) is a rare genetic disease characterized by severe generalized joint hypermobility, bilateral congenital hip dislocation, skin hyperextensibility, muscle hypotonia, and mild dysmorphic features. It is an autosomal dominant connective tissue disease causing defects in collagen, associated with two genes, COL1A1 or COL1A2. Only about 42 cases have been published worldwide. Treatment is currently symptomatic and focuses on increasing the quality of life of these patients, as there is no curative treatment. The main objective of the review was to update information on Ehlers–Danlos syndrome type arthrochalasia from scientific publications. The review report was carried out in accordance with the criteria of the Preferred Reporting Items for Systematic reviews and MetaAnalyses (PRISMA) review protocol, by searching Orphanet, OMIM, PubMed, and Scopus, as well as free sources. A total of 20 articles were analyzed, which, after analysis, provide an updated report that aims to establish a solid starting point for future lines of research.

“…Ehlers–Danlos syndrome (EDS) is a heritable disorder of connective tissue with a prevalence of 1:5000 and 1:20,000 around the world, being more frequent in females, who represent 90% of all cases [ 1 , 2 ].…”

Section: Introductionmentioning

confidence: 99%

Psychosocial Influence of Ehlers–Danlos Syndrome in Daily Life of Patients: A Qualitative Study

Palomo-Toucedo

León-Larios

Reina-Bueno

et al. 2020

(1) Background: Ehlers–Danlos syndrome is a heterogeneous group of connective tissue disorders causing pain, fatigue, and disabilities; it has several implications for patients who suffer from this disease. The major clinical manifestations of EDS include joint hypermobility, skin hyperextensibility, and generalized conjunctive tissue fragility. This research aims to explore their perceptions and experiences about the phycological and social spheres. (2) Methods: Semistructured interviews were carried out. Participants were encouraged to talk about issues related to their disease by asking open-ended questions in one to one interview. The interview guide included questions to identify the syndrome’s influence on the social and psychological life of patients All interviews were audio recorded, fully transcribed, and analyzed using the phenomenological theoretical framework. The method of analysis was the thematic interpreting of perspectives and approaches. (3) Results: 31 individuals were proposed to participate in this study. Five patients refused to participate, so a total of 26 interviews were performed. Six themes ((1) Pain and its consequences on a daily basis; (2) The need to name the problem: the diagnosis; (3) Restructuring leisure and social relationships; (4) Limitations due to economic conditions; (5) Psychological impact of the disease situation; (6) Professional limitations) and four subthemes ((1) The value of partner support; (2) The weather influence on social plans; (3) Physical exercise and illness; (4) Support groups) emerged from the data. (4) Conclusions: This study revealed the impact of the syndrome on the social and daily life of patients, and not only in a physical level, but also in a psychological and social approach. These findings allow healthcare providers to know more about this disease in order to support and give advice to patients about the changes they will have to make.