Biomarkers for Ehlers-Danlos Syndromes: There Is a Role?
Ehlers-Danlos syndrome
biomarkers
diagnosis
follow up
Journal
International journal of molecular sciences
ISSN: 1422-0067
Titre abrégé: Int J Mol Sci
Pays: Switzerland
ID NLM: 101092791
Informations de publication
Date de publication:
20 Sep 2021
20 Sep 2021
Historique:
received:
02
09
2021
revised:
16
09
2021
accepted:
17
09
2021
entrez:
28
9
2021
pubmed:
29
9
2021
medline:
21
10
2021
Statut:
epublish
Résumé
Ehlers-Danlos syndromes (EDS) are an inherited heterogeneous group of connective tissue disorders characterized by an abnormal collagen synthesis affecting skin, ligaments, joints, blood vessels, and other organs. It is one of the oldest known causes of bruising and bleeding, and it was described first by Hippocrates in 400 BC. In the last years, multiple gene variants involved in the pathogenesis of specific EDS subtypes have been identified; moreover, new clinical diagnostic criteria have been established. New classification models have also been studied in order to differentiate overlapping conditions. Moreover, EDS shares many characteristics with other similar disorders. Although distinguishing between these seemingly identical conditions is difficult, it is essential in ensuring proper patient care. Currently, there are many genetic and molecular studies underway to clarify the etiology of some variants of EDS. However, the genetic basis of the hypermobile type of EDS (hEDS) is still unknown. In this review, we focused on the study of two of the most common forms of EDS-classic and hypermobile-by trying to identify possible biomarkers that could be of great help to confirm patients' diagnosis and their follow up.
Identifiants
pubmed: 34576312
pii: ijms221810149
doi: 10.3390/ijms221810149
pmc: PMC8469247
pii:
doi:
Substances chimiques
Biomarkers
0
Types de publication
Journal Article
Review
Langues
eng
Sous-ensembles de citation
IM
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