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Ehlers-Danlos Syndrome

Condition: Ehlers-Danlos Syndrome (EDS) is a group of disorders that affect the skin, joints and/or blood vessels.

Background: The actual prevalence of EDS is unknown, because many patients are never diagnosed, particularly if they only have one symptom.

Risk Factors: EDS is a genetic disorder, which means it is passed from parent to child. If a parent has one of the most common types of EDS, there's a 50% chance their child or children will be born with the same EDS gene.

History and Symptoms: EDS patients often have unusually flexible joints, loose skin and skin that scars easily and does not heal well. Some people with EDS only have one symptom, others have more, and they can range from mild to severe. It’s important to know that symptoms can also vary widely among the different types of EDS. For example, a baby with one of the more common types may be born with dislocated hips; an individual with vascular EDS may have nearly translucent skin with visible veins; patients with Kyphoscoliosis EDS may have eye issues and scoliosis. Patients can have problems with hypotension (low blood pressure) as well as difficulties with gastrointestinal motility.

Physical Exam: In addition to examining skin and joints, the rehab physician/PM&R physician may ask patients to bend and place their hands flat on the floor without bending the knees, or other tests that make up the Beighton Score, to check for hypermobility. Other exams may be performed to help identify specific type of EDS. 

Diagnostic Process: The rehab physician/PM&R physician may do a skin biopsy or take a blood sample, then perform genetic tests to confirm an EDS diagnosis or rule out other issues.

Rehab Management: Rehabilitation should focus on improving posture and spatial orientation, building strength and motor control, stabilizing joints, and increasing physical activity. Education is also important so patients can remain active but do so in a safe manner that includes sports and activities that minimize risk to joints. Medications can also be used to manage pain.

Other Resources for Patients and Families: The Ehlers-Danlos National Foundation offers many resources for patients and families, such as support group information and a helpline.

For Patients and Families:

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