Overview
Diagnosis
Diagnosis of Ehlers-Danlos syndrome (EDS) is usually based on a combination of physical symptoms and family history. Common indicators include:
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Extremely loose joints that move beyond the normal range of motion.
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Fragile or stretchy skin that may bruise easily.
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A family history of Ehlers-Danlos syndrome or similar connective tissue disorders.
For most cases, especially hypermobile Ehlers-Danlos syndrome (hEDS) — the most common type — no specific genetic test is currently available. However, in rarer forms of EDS, genetic testing using a blood sample can confirm the diagnosis and help rule out other connective tissue disorders.
Additional tests that may be done include:
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Echocardiogram to check for heart or blood vessel problems.
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Genetic testing to identify mutations in collagen-related genes for rarer types.
Treatment
While there is no cure for Ehlers-Danlos syndrome, treatment focuses on managing symptoms, preventing complications, and improving quality of life.
Medications
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Pain relief: Over-the-counter pain relievers such as acetaminophen (Tylenol), ibuprofen (Advil, Motrin IB), or naproxen sodium (Aleve) are commonly used. Stronger prescription painkillers may be given for acute injuries.
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Blood pressure control: In some types of EDS, blood vessels are fragile. Doctors may prescribe medication to keep blood pressure low and reduce stress on blood vessels.
Physical Therapy
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Strengthening exercises: Physical therapy helps stabilize joints and reduce the risk of dislocation.
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Braces or supports: These may be recommended to help protect weak joints and prevent frequent dislocations.
Surgical and Other Procedures
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Surgery may be required to repair joints damaged by repeated dislocations or to fix ruptured blood vessels or organs. However, surgery in EDS patients requires special care because tissues are fragile and stitches may tear easily, leading to slow healing or complications.
With careful management and ongoing medical support, people with Ehlers-Danlos syndrome can often maintain an active and fulfilling life.
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