TY - JOUR
T1 - Ehlers-Danlos Syndrome
T2 - Immunologic contrasts and connective tissue comparisons
AU - Islam, Mareesa
AU - Chang, Christopher
AU - Gershwin, M. Eric
N1 - Publisher Copyright:
© 2020 The Authors
Copyright:
Copyright 2021 Elsevier B.V., All rights reserved.
PY - 2021/1
Y1 - 2021/1
N2 - Ehlers-Danlos Syndrome (EDS) is a family of multisystemic hereditary connective tissue disorders now comprised of 13 recognized subtypes, classical, classical-like, cardiac-valvular, vascular, hypermobile, arthrochlasia, dermosparaxis, kyphoscoliotic, brittle cornea syndrome, spondylodysplastic, musculocontractural, myopathic, and periodontal, as designated by the most recent 2017 International classification system. Clinical presentation of this disease can range from mild manifestations including skin hyperextensibility and joint hypermobility, to more severe complications such as vascular and organ rupture. While there may be accompanying inflammation in some of the subtypes of EDS, the pathogenic mechanisms have not been clearly defined. Thorough evaluation incorporates clinical examination, family history, laboratory testing, and imaging. In recent years, studies have identified multiple gene variants involved in the pathogenesis of specific EDS subtypes as well as elaborate clinical diagnostic criteria and classification models used to differentiate overlapping conditions. The differential diagnosis of EDS includes hypermobility spectrum disorders, Marfan syndrome, Loey-Dietz syndrome, Cutis laxa syndromes, autosomal dominant polycystic kidney disease, osteogenesis Imperfecta Type 1, fibromyalgia, depression, and chronic fatigue syndrome. Surgical treatment is reserved for complications, or emergencies involving vascular or orthopedic injury because of the risk of poor wound healing. Management techniques each have their own consequences and benefits, which will also be discussed in this review article. Patients affected by this spectrum of disorders are impacted both phenotypically and psychosocially, diminishing their quality of life.
AB - Ehlers-Danlos Syndrome (EDS) is a family of multisystemic hereditary connective tissue disorders now comprised of 13 recognized subtypes, classical, classical-like, cardiac-valvular, vascular, hypermobile, arthrochlasia, dermosparaxis, kyphoscoliotic, brittle cornea syndrome, spondylodysplastic, musculocontractural, myopathic, and periodontal, as designated by the most recent 2017 International classification system. Clinical presentation of this disease can range from mild manifestations including skin hyperextensibility and joint hypermobility, to more severe complications such as vascular and organ rupture. While there may be accompanying inflammation in some of the subtypes of EDS, the pathogenic mechanisms have not been clearly defined. Thorough evaluation incorporates clinical examination, family history, laboratory testing, and imaging. In recent years, studies have identified multiple gene variants involved in the pathogenesis of specific EDS subtypes as well as elaborate clinical diagnostic criteria and classification models used to differentiate overlapping conditions. The differential diagnosis of EDS includes hypermobility spectrum disorders, Marfan syndrome, Loey-Dietz syndrome, Cutis laxa syndromes, autosomal dominant polycystic kidney disease, osteogenesis Imperfecta Type 1, fibromyalgia, depression, and chronic fatigue syndrome. Surgical treatment is reserved for complications, or emergencies involving vascular or orthopedic injury because of the risk of poor wound healing. Management techniques each have their own consequences and benefits, which will also be discussed in this review article. Patients affected by this spectrum of disorders are impacted both phenotypically and psychosocially, diminishing their quality of life.
KW - Aneurysms
KW - Collagen
KW - Easy bruising
KW - Fragility
KW - Hyperextensibility
KW - Hypermobility
KW - Immunodysregulation
KW - Organ rupture
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U2 - 10.1016/j.jtauto.2020.100077
DO - 10.1016/j.jtauto.2020.100077
M3 - Review article
AN - SCOPUS:85098524764
VL - 4
JO - Journal of Translational Autoimmunity
JF - Journal of Translational Autoimmunity
SN - 2589-9090
M1 - 100077
ER -