Many patients are referred to the Brigham Genetics & Genomic Medicine Service for a history of joint hypermobility and/or a suspected connective tissue disorder, such as Ehlers-Danlos syndrome (EDS). In order to provide high-quality care to these patients, we have developed a questionnaire for patients to complete prior to their appointment in clinic. This questionnaire can be found online here. We will send a copy of the questionnaire to patients or providers via email, fax, or in the mail upon request. Once we receive a completed questionnaire from a patient referred for evaluation for hypermobility and/or a connective tissue disorder such as Ehlers-Danlos syndrome, our clinical team will contact the patient to schedule an appointment in clinic.
To request a clinic questionnaire and be placed on a list for an appointment for evaluation of joint hypermobility/ EDS: please call (617) 525-8111 or email GGMS@partners.org.
Connective tissue disorders are genetic conditions that are characterized by a defect in the connective tissue. Connective tissue provides support to many parts of the body, such as the skin, muscles, GI tract, heart, and ligaments. Because connective tissue is found throughout the body, individuals affected by connective tissue disorders can experience a wide variety of symptoms and medical problems.
Ehlers-Danlos syndrome (EDS) is a condition that falls into the broad category of connective tissue disorders. There are multiple subtypes of EDS that are associated with variable features and severity. The most common type of EDS is called ‘hypermobility-EDS’, or ‘type III’ EDS. Hypermobility-type EDS is often characterized by joint hypermobility, joint instability, and joint pain. While some connective tissue disorders are associated with specific and distinctive features, there may be symptoms that overlap between EDS types or other connective tissue disorders.
Our providers in the Genetic & Genomic Medicine Service do not directly treat or manage acute symptoms that a patient with hypermobility might have, such as joint pain or joint dislocations and instability. Patients who require medical assistance for active problems should contact their PCP and/or establish care with an appropriate medical specialist.