CORRELATION OF HYPERMOBILE EHLERS-DANLOS SYNDROME (EDS) AND THE JOINT DAMAGE ON DAILY LIFE OF AFFECTED PATIENTS: A BIBLIOGRAPHIC REVIEW
-
Published:2024-03-27
Issue:3
Volume:17
Page:e4748
-
ISSN:1981-223X
-
Container-title:REVISTA FOCO
-
language:
-
Short-container-title:Rev. Foco
Author:
Reis Danilo Lemes,Amaral Emanuelle Campos,Werneck Luiza Vieira,Carvalho Fernanda Almeida,Reis Dhayane Lemes,Souza Annie Kamilly Lima,Silva Samira Cordovil
Abstract
Ehlers-Danlos Syndrome, known by the acronym EDS, is a genetic pathology that affects the synthesis of collagen, the main constituent protein connective tissue in the human body. Over the centuries, this pathology has been described several times, having its beginning in the 17th century with a superficial explanation that did not specifically detail the symptoms seen today for the disease. Only at the beginning of the 20th century did doctors Edward Ehlers and Alexandre Danlos defined the primary postulations regarding SED as understood today. From of these definitions, in 2017 the parameters and types of that Syndrome were discussed that exist in the world, namely: vascular, astrochalasis, dermatoparaxis, fragile cornea syndrome, hypermobile etc. A protein affected by EDS, collagen, presents a biosynthesis signaled by polyribosomes of the REG where it begins as pre-procollagen and ends in formation of fribilas in the extracellular environment, when it comes to fibrillar collagens, composing the tension-resistant structure that forms tendons and joints, for example. In ED Syndrome, the mutation affects the biosynthesis of specific types of collagens, especially the fibril-forming ones (I, II, III, V and XI), affecting the formation of important components of the human body and causing problems in the structure of the body's joints, in a Brazilian context, mostly the glenohumeral joint. An Ehlers-Danlos syndrome presents as its main symptoms pain, fatigue, dystonia, dysautonomia, joint hypermobility and skin hyperextensibility and their signs are noticeable from birth. After noticing these signs, you should carry out a clinical analysis and later a genetic one to define ways of treatment and rehabilitation for patients affected by EDS, being indicated mainly physiotherapy and social support treatments.
Publisher
South Florida Publishing LLC
Reference13 articles.
1. ALBERTS, B.; BRAY, D.; LEWIS, J.; RAFF, M.; ROBERTS, K.; WATSON, J. D. Biologia Molecular da Célula. 6. ed. Porto Alegre: Artmed, 2017. 2. AUVIN, S.; IRWIN, J.; ABI-AAD, P.; BATTERSBY, A. The Problem of Rarity: Estimation of Prevalence in Rare Disease. Value in Health, v. 21, n. 5, p. 501–507, 2018. 3. BEM-HAJA, P. L.; CANGA, J. C.; ABREU, Y. L. de; BEDONI, F. M. Ehlers-Danlos syndrome in chronic pain patient. Case report. Revista Dor, v. 17, n. 2, 2016. 4. CHATOVSKI, D. Atuação fisioterapêutica na reabilitação de portadores da Síndrome de Ehlers-Danlos - uma revisão bibliográfica. 2021. Centro Universitário Uniguairacá, 2021. 5. ESPÓSITO, A. C. C.; CONEGLIAN, L. B.; JORGE, M. F. S.; JÚNIOR, L. A. J.; MIOT, H. A. Síndrome de Ehlers-Danlos, variante clássica: apresentação de um caso e revisão da literatura. Diagnóstico & Tratamento, v. 21, n. 3, p. 118–21, 2016.
|
|