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.

Background: Ehlers–Danlos syndromes (EDS) have been associated with psychological distress, comorbid psychiatric disorders, and worsening in quality of life (QoL). Among the neurodevelopmental disorders, autism spectrum disorders (ASD) have shown the highest rates of co-occurrence with EDS. The reasons for these associations are unknown and a possible role of pain in increasing the risk of psychiatric disorders in EDS has been suggested. However, a detailed picture of an Italian EDS sample is still lacking. Methods: We conducted a web-based survey in a third level center for the diagnosis of EDS in northern Italy, to investigate psychological distress, QoL, and the presence of autistic traits. Furthermore, we correlated the psychometric data with some clinical variables. Results: We observed a high rate of psychological distress with 91% of the responders at high risk of common mental disorders, low QoL, and high prevalence of autistic traits in EDS patients. Specifically, patients lacking a specific genetic test, diagnosed as suspects of EDS appeared to be at greater risk and reported worse psychological QoL. Pain was significantly associated with both psychological distress and worse QoL. Conclusions: Our findings support the need of further research and of a multi-disciplinary approach to EDS including psychological and psychiatric liaison.

Background: the incidence of Achilles tendon (AT) rupture is rising; however, there is no clear consensus regarding the optimal treatment. The aim of this retrospective study was to compare instrumental and patient-reported outcome scores after fast functional rehabilitation (group A) versus plaster cast immobilization (group B) programs in patients who underwent AT tenorrhaphy. Methods: 33 patients, with similar clinical and demographic features, underwent open AT tenorrhaphy between January and July 2018. Of these, 15 patients were treated with fast functional rehabilitation program (group A), and 18 patients were treated with plaster cast immobilization protocol (group B). Sural triceps hypotrophy and functional scores (American Orthopaedic Foot and Ankle Society (AOFAS) Ankle–Hindfoot Score, and Achilles tendon Total Rupture Score (ATRS)) were recorded at a 12-month follow-up. Ultrasonography (US) and elastosonography (ES) were used to compare the characteristics of the tendons after surgery. Results: At 12 months, no significant differences in any of the patient-reported outcomes or the instrumental measurement tests were seen between the two groups. Conclusions: fast functional rehabilitation after AT surgical repair is safe, effective, and may be the first choice of treatment, especially in young, collaborative, and active patients.