Ehlers-Danlos Syndrome (EDS)

This study is looking at whether Pilates-based exercise can help with hypermobility-related symptoms, like pain.

This clinical trial is designed to evaluate whether a stepwise injection-based treatment approach can reduce pain and improve function in adults with joint hypermobility, connective tissue laxity, and joint instability. Joint hypermobility occurs when joints move beyond their normal range, often because of looser connective tissue. For some patients, this can contribute to chronic pain, recurrent instability, reduced function, and disability. This study focuses on adults with hypermobile Ehlers-Danlos syndrome (hEDS), hypermobility spectrum disorder (HSD), or joint instability after injury who have already completed physical therapy without adequate relief. The main question this study aims to answer is whether the first treatment step, dextrose prolotherapy, can reduce pain by 40% or more two weeks after the second injection. Participants will receive treatment in a step-by-step sequence, based on their response: Step 1: Dextrose prolotherapy A dextrose-based injection used to stimulate a healing response in ligament, tendon, or joint-supporting tissue. Step 2: Platelet-rich plasma (PRP) An injection prepared from the participant's own blood, designed to support tissue repair and recovery. Step 3: Doxycycline injections A low-dose injectable treatment used in this study to help protect joint-supporting tissue. It is not being used to treat infection. Alternative option: Hyaluronic acid injections An injection into the joint that may be offered if the earlier treatment steps do not provide enough improvement. Each treatment step begins with two injections, given approximately two weeks apart. If a participant improves by 40% or more, they may continue with that treatment pathway. If they do not improve enough, they may be offered the next step in the study. Participants will be followed for up to 12 months, with study visits used to monitor pain, function, treatment response, and safety.

Dysmenorrhea is a common problem in gynaecology, significantly impacting patients' quality of life. Ehlers-Danlos syndrome (EDS) is associated with joint hypermobility, tissue fragility and chronic pain. Some studies suggest an increased prevalence of gynaecological disorders, including dysmenorrhea, in patients with EDS. However, data remain limited and few studies have compared the intensity and characteristics of dysmenorrhea in women with EDS. There is also little data on the prevalence of other gynaecological conditions in women with EDS. This study therefore aims to compare the severity of dysmenorrhea in patients with EDS and a control group in order to better characterise the gynaecological impact of EDS. It will also compare the prevalence of other gynaecological conditions between women with EDS and women without EDS.

The general objective of this research is to evaluate the characteristics of bone mineralisation in patients with Marfan syndrome or Ehlers-Danlos syndrome on a large case series. In particular we intend to obtain data regarding the characteristics of bone mineralisation, as well as their variation over time and the relationships existing with other clinical-anamnestic parameters, in patients with Marfan syndrome or Ehlers-Danlos syndrome by retrospectively analysing (data already collected for normal clinical practice and already available at the hospital) the case history of the Cardiovascular genetic center at IRCCS Policlinico San Donato and the related Computerized Bone Mineralometry (MOC) examinations performed at the Radiology Service of the same hospital between 1 September 2019 and 31 December 2022.