Hypermobility/ EDS Evaluation

Scheduling Update: Due to a shortage of clinical providers, the adult genetics clinic has extremely limited clinic capabilities and is currently unable to schedule patients for referral indications related to joint hypermobility and/or Ehlers-Danlos syndrome (EDS). We regret the disappointment and frustration that this will cause patients and referring providers. While we hope that our clinical program will be able to eventually resume clinical care for this patient population, we do not have an estimated timeframe for when this might happen.

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. Please feel free to reference this letter created by our clinical genetics team that summarizes clinical evaluation considerations and provides some general management guidance for hypermobility-type EDS.

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