Ehlers-Danlos Syndrome Diagnosis: Understanding the Process

Diagnosing Ehlers-Danlos syndrome (EDS) often relies on a thorough physical examination, considering factors like joint flexibility, skin texture, and family medical history. For some rarer forms of EDS, genetic testing can play a crucial role in confirming the diagnosis and excluding other conditions. However, it’s important to note that for hypermobile Ehlers-Danlos syndrome (hEDS), the most prevalent type, there is currently no genetic test available.

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Understanding the Diagnostic Approach for EDS

The diagnosis of Ehlers-Danlos syndrome is not always straightforward and often involves a combination of clinical evaluation and, in some cases, genetic testing. Doctors typically begin with a detailed assessment of your symptoms, focusing on key indicators of EDS.

Clinical Evaluation: Key Indicators for EDS Syndrome Diagnosis

A physical exam is central to the diagnostic process. Healthcare professionals will assess for:

Joint Hypermobility: This is a hallmark of many types of EDS. Doctors will evaluate the range of motion in various joints to determine if they are excessively flexible.
Skin Elasticity and Texture: EDS can affect the skin, making it unusually stretchy (extensible) and fragile. The texture of the skin might also be noted.
Family History: A family history of EDS or similar symptoms is a significant factor in diagnosis. Doctors will inquire about whether other family members have been diagnosed with EDS or exhibit symptoms like hypermobility or unexplained joint dislocations.

Genetic Testing in EDS Diagnosis: When is it Necessary?

While clinical evaluation is often sufficient for diagnosing some forms of EDS, genetic testing becomes essential in specific situations:

Rarer Types of EDS: For less common types of EDS, genetic testing can pinpoint the specific genetic mutation responsible. This is crucial for accurate diagnosis and understanding the specific subtype of EDS.
Ruling Out Other Conditions: Genetic tests can also help to exclude other conditions that might present with similar symptoms to EDS. This is important for differential diagnosis and ensuring appropriate management.
Confirmation in Certain Cases: Even when clinical signs are suggestive of EDS, genetic testing can provide definitive confirmation, particularly in cases where there is diagnostic uncertainty.

It’s crucial to remember that for hypermobile EDS (hEDS), the most common type, there is currently no identified genetic marker. Therefore, diagnosis of hEDS relies solely on clinical criteria.

Treatment Strategies for Ehlers-Danlos Syndrome

While there is no cure for Ehlers-Danlos syndrome, effective treatments are available to manage symptoms and prevent complications. The focus of treatment is to improve quality of life and address individual needs.

Medications for Symptom Management

Medications play a role in managing specific symptoms associated with EDS:

Pain Management: Pain is a common symptom in EDS. Over-the-counter pain relievers like acetaminophen (Tylenol) and ibuprofen (Advil, Motrin) are often the first line of treatment. For acute pain episodes, stronger pain medications might be considered under medical supervision.
Blood Pressure Control: In some types of EDS where blood vessels are more fragile, managing blood pressure is important. Medications may be prescribed to keep blood pressure within a healthy range, reducing stress on blood vessels.

Physical Therapy: Strengthening and Stabilization

Physical therapy is a cornerstone of EDS management. Weak connective tissues in joints make them prone to dislocations and instability. Physical therapy aims to:

Strengthen Muscles: Targeted exercises help build muscle strength around joints, providing better support and stability.
Stabilize Joints: Specific exercises and techniques are used to improve joint stability and reduce the risk of dislocations.
Bracing: Physical therapists may recommend braces or supports to further protect and stabilize vulnerable joints, preventing dislocations during activity.

Surgical Interventions and Other Procedures

Surgery is considered in specific situations when conservative treatments are insufficient:

Joint Repair: If repeated joint dislocations cause significant damage, surgery may be needed to repair the affected joint.
Vascular and Organ Repair: In cases where blood vessels or organs rupture (a rare but serious complication in some EDS types), surgery may be necessary to repair these areas.
Wound Healing Considerations: It’s important to note that surgical wounds in individuals with EDS may heal less effectively due to tissue fragility. Stitches might tear through tissues, requiring careful surgical techniques and post-operative care.

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Navigating Life with EDS: Lifestyle Adjustments and Coping Strategies

Living with Ehlers-Danlos syndrome requires proactive strategies to prevent injuries and manage daily life effectively.

Lifestyle Modifications for Injury Prevention

Preventing injuries is paramount for individuals with EDS. Consider these lifestyle adjustments:

Choose Appropriate Sports: Opt for low-impact activities like walking, swimming, tai chi, and gentle cycling (stationary or recreational). Avoid high-impact sports, contact sports, weightlifting, and activities that put excessive stress on joints.
Jaw Joint Care: Protect your jaw by avoiding chewing gum, hard foods, and ice. During dental procedures, take breaks to rest your jaw.
Supportive Footwear: Wear supportive shoes, especially laced boots with good arch support, to minimize ankle sprains and provide stability.
Optimize Sleep: Use body pillows and firm mattresses to provide cushioning and support for painful joints during sleep. Side sleeping may also be more comfortable.

Coping and Building a Support System

Living with a chronic condition like EDS can present emotional and practical challenges. Effective coping strategies include:

Increase EDS Knowledge: Educating yourself about EDS empowers you to manage your condition effectively. Seek out healthcare providers who are knowledgeable about EDS.
Communicate with Others: Inform family, friends, and employers about your condition. Discuss workplace accommodations with your employer to enhance productivity and comfort.
Build a Strong Support Network: Cultivate supportive relationships with family and friends. Consider joining support groups (online or in-person) to connect with others who understand the EDS experience and share coping strategies. Counseling or spiritual guidance can also provide valuable support.

Supporting Children with EDS

If you are a parent of a child with EDS, these suggestions can help your child cope and thrive:

Maintain Normalcy: Treat your child like other children as much as possible. Encourage others, including family and teachers, to do the same.
Open Communication: Create a safe space for your child to express their feelings about having EDS, including any anger or frustration. Ensure teachers and caregivers are informed about your child’s condition and understand appropriate care, especially in case of falls or injuries.
Promote Safe Activities: Encourage physical activity within safe boundaries. Non-weight-bearing activities like swimming are excellent choices. Consult your child’s doctor or physical therapist for tailored recommendations.

Preparing for Your Doctor’s Appointment for Suspected EDS

If you suspect you might have Ehlers-Danlos syndrome, preparing for your doctor’s appointment can make the consultation more productive.

What to Bring to Your Appointment

Before your appointment, consider preparing the following information:

Symptom List: Detail all the symptoms you are experiencing, including their onset and severity.
Family Medical History: Note if any family members (parents, grandparents, siblings) have had similar symptoms or have been diagnosed with EDS or related conditions.
Family History of Vascular Issues: Record if any blood relatives have experienced unexplained ruptured blood vessels or organ ruptures.
Medication List: Bring a list of all medications and supplements you currently take.

What to Expect From Your Doctor

Your doctor will likely ask questions to understand your symptoms and medical history, such as:

Joint Flexibility: Are your joints excessively flexible or double-jointed?
Skin Stretchiness: Is your skin unusually stretchy or easily bruised?
Wound Healing: Does your skin heal poorly after injuries or surgery?

By Mayo Clinic Staff

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Published: August 25, 2022

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