Portal de Periódicos da CAPES

Biomarkers for Ehlers-Danlos Syndromes: There Is a Role?

2021; Multidisciplinary Digital Publishing Institute; Volume: 22; Issue: 18 Linguagem: Inglês

10.3390/ijms221810149

1661-6596

Laura Caliogna, Viviana Guerrieri, Salvatore Annunziata, Valentina Bina, Alice Maria Brancato, Alberto Castelli, Eugenio Jannelli, Alessandro Ivone, Federico Alberto Grassi, Mario Mosconi, Gianluigi Pasta,

Dupuytren's Contracture and Treatments

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.