Unraveling the Puzzle: A Comprehensive Guide to Diagnosing Ehlers-Danlos Syndrome

Ehlers-Danlos Syndrome (EDS) is not a single disease, but rather a group of inherited connective tissue disorders that affect collagen, a protein that provides structure and strength to skin, bones, blood vessels, and many other organs and tissues. Diagnosing EDS can be a complex and lengthy process, often involving a multidisciplinary approach. This is because EDS presents with a wide spectrum of symptoms that can overlap with other conditions. This guide aims to provide a detailed understanding of the diagnostic process, including the steps involved, the various assessments used, and the importance of seeking expert medical advice.

Understanding the Challenges of Diagnosing EDS

One of the main hurdles in diagnosing EDS is its variability. Symptoms can range from mild joint hypermobility and easy bruising to severe and life-threatening complications involving the heart, blood vessels, and internal organs. This variability, combined with the fact that many healthcare professionals may not be fully familiar with EDS, can lead to delays in diagnosis or misdiagnosis.

Furthermore, there are thirteen recognized subtypes of EDS, each with slightly different clinical criteria. While some subtypes have a clear genetic basis, others are not yet fully understood, making diagnosis even more challenging. The lack of a single, definitive diagnostic test for all EDS types further complicates matters.

Key Steps in the Diagnostic Process

The diagnostic journey for EDS typically involves several steps, which may not be linear and often require patience and persistence. Here’s a breakdown of the process:

1. Initial Consultation and Medical History

The first step is a comprehensive consultation with a healthcare provider, ideally one who is knowledgeable about EDS. This involves a detailed discussion of your medical history, including:

• Presenting Symptoms: Be prepared to describe all of your symptoms, including their onset, frequency, duration, and severity. Pay attention to seemingly unrelated symptoms as they might be clues. Include symptoms such as:
• Joint pain, instability, and dislocations/subluxations
• Easy bruising and slow wound healing
• Skin that is soft, velvety, and stretchy (hyperextensible)
• Fatigue
• Digestive issues
• Cardiovascular problems like POTS (Postural Orthostatic Tachycardia Syndrome) or valve issues
• Chronic pain
• Specific issues during pregnancy
• Eye issues
• Neurological issues
• Family History: EDS is often inherited, so a thorough family history is crucial. Document any family members with similar symptoms, hypermobility, or known connective tissue disorders. Inquire about miscarriages, hernias, and similar conditions in family members. Be as detailed as possible, noting which side of the family each symptom is coming from, even if there are generations between those affected.
• Past Medical History: Detail any past surgeries, injuries, hospitalizations, and medical diagnoses. This may uncover patterns of joint problems, unusual bruising, or other EDS-related issues.
• Medications and Allergies: Provide a complete list of current medications and any known allergies. Some medications can mask or exacerbate symptoms.
• Childhood Development: Note any early developmental milestones like crawling, walking, or sitting. Delayed milestones or unusual difficulties might be significant. Describe motor and physical difficulties in school. Document growth and weight.
• Psychological History: Mental health often is affected by EDS. If you have a history of anxiety, depression, and other such conditions, this is important to bring up with the doctor as these are sometimes co-morbid.

Documentation is Key: It’s highly beneficial to keep a symptom diary before your appointment. Document your symptoms, their triggers, the impact on your daily life, and how you find relief. Taking photos of bruises, dislocations, and skin stretching can also be helpful.

2. Physical Examination

A detailed physical examination is a vital part of the diagnostic process. Here’s what a healthcare provider may assess:

• Skin Evaluation: The doctor will assess your skin’s texture, elasticity, and wound healing ability. They will look for:
• Hyperextensibility: Skin that can be stretched beyond the normal range, typically tested on the forearm, neck or back of the hands.
• Velvety Texture: Skin that feels soft and smooth, like velvet.
• Easy Bruising: Presence of unexplained bruises and petechiae (tiny red or purple spots on the skin caused by broken capillaries).
• Abnormal Scarring: Wide, thin, or atrophic scars, sometimes described as “cigarette paper” scars.
• Joint Hypermobility Assessment: The Beighton score is the most common method for evaluating joint hypermobility. This involves performing a series of standardized movements, including:
• Passive dorsiflexion of the 5th finger (bending it backward).
• Passive apposition of the thumb to the forearm.
• Hyperextension of the elbow and knees.
• Forward flexion of the trunk with palms on the floor.

A score of five or more out of nine points generally indicates hypermobility, but it is not the only criteria for diagnosis, and a score below 5 does not rule out EDS, especially in older adults and those with significant pain. It’s important to note that joint hypermobility can vary significantly throughout life and can be affected by pain, muscle guarding, and surgery.

• Cardiovascular Assessment: The doctor may check your blood pressure, heart rate, and listen for any abnormal heart sounds. They may also assess for signs of postural orthostatic tachycardia syndrome (POTS), a common comorbidity in EDS. They might order an EKG (Electrocardiogram) and possibly an echocardiogram.
• Musculoskeletal Assessment: They’ll look for signs of joint instability, dislocations, subluxations, and muscle pain. They will assess range of motion and evaluate the presence of any deformities, such as scoliosis or flat feet.
• Neurological Examination: This may include testing reflexes, muscle strength, and sensory function.
• Other System Assessments: Depending on your specific symptoms, they may assess other systems, such as the digestive system (e.g., for hernias or gastrointestinal issues), the eyes (e.g., for vision problems or blue sclera), and the respiratory system.

3. Diagnostic Criteria

The diagnostic criteria for EDS vary depending on the subtype. The most commonly used criteria are those for hypermobile EDS (hEDS) and the other twelve types. While the other types have specific genetic testing or phenotypic findings, hEDS is a clinical diagnosis, meaning it is diagnosed based on the physical exam, and is an exclusion diagnosis, meaning other diseases must be excluded first. The most updated criteria for hEDS are those from the 2017 International Classification. These consist of three criteria, each with its own sub-criteria:

• Criterion 1: Joint Hypermobility. It must include a Beighton score, which is described above, of at least 6/9 for individuals before puberty, 5/9 for those from puberty to 50 years old, or 4/9 for those older than 50.
• Criterion 2: Two or more of the Following:
  • A: Five or more systemic manifestations, from a list of twelve symptoms, such as unusual skin, soft tissue issues, or cardiovascular and respiratory issues, etc.
  • B: Family history with at least one first-degree relative meeting hEDS criteria.
  • C: Musculoskeletal pain in two or more limbs, chronic pain, or recurrent dislocations.
• Criterion 3: The condition has to be present and other conditions with similar features have to be ruled out, such as other connective tissue disorders, rheumatic and autoimmune conditions, etc.

It’s crucial to understand that not every individual with EDS will meet all the criteria. Some individuals may have mild symptoms or only a subset of features.

4. Genetic Testing

Genetic testing can be helpful in diagnosing certain subtypes of EDS, particularly the classical, vascular, and kyphoscoliotic types. However, there isn’t a specific genetic test for hEDS. If the symptoms suggest one of the other types of EDS, then genetic testing is typically performed. The type of genetic test needed depends on which subtype of EDS is suspected. It usually involves taking a blood sample, sometimes a skin biopsy, and looking for mutations in specific genes known to cause EDS. Genetic testing is not always conclusive as some mutations may not be identified and some individuals with EDS have no identified mutation. For those with hEDS, genetic testing may be helpful to rule out other conditions such as the vascular type of EDS.

5. Imaging and Other Tests

Imaging studies, such as X-rays, MRI, or CT scans, may be ordered to evaluate joint damage, spinal abnormalities, or other structural issues. An echocardiogram might be done to assess heart valve function. Other tests might include:

• Dual-energy X-ray absorptiometry (DEXA scan): To evaluate bone density, especially important as people with EDS can have lower bone density.
• Autonomic Function Testing: This may include a tilt table test, to assess for POTS and other autonomic dysfunctions.
• Ophthalmological Examination: To rule out eye issues and examine the sclera (white part of the eye).
• Gastrointestinal Tests: For those with digestive symptoms, tests like upper endoscopy, colonoscopy, or motility studies may be performed.

6. Differential Diagnosis

Diagnosing EDS often requires excluding other conditions with similar symptoms. Some of these include:

• Other connective tissue disorders: Marfan syndrome, osteogenesis imperfecta, Loeys-Dietz syndrome, and Stickler syndrome.
• Rheumatological disorders: Lupus, rheumatoid arthritis, and ankylosing spondylitis.
• Hypermobility spectrum disorder (HSD): While similar to hEDS, HSD lacks some of the systemic features and does not fulfill all the criteria for hEDS.
• Fibromyalgia: A chronic pain condition with widespread musculoskeletal pain, fatigue, and sleep disturbances.
• Neurological conditions: Some neurological disorders can cause joint pain and movement issues.

It may require a rheumatologist, geneticist, neurologist, and other specialists to rule out these conditions.

7. The Role of a Multidisciplinary Approach

Because EDS affects multiple systems, a multidisciplinary team of healthcare providers is essential for diagnosis and management. This team may include:

• Primary care physician: To coordinate care and oversee overall health.
• Geneticist: To help diagnose and manage genetic disorders and coordinate genetic testing.
• Rheumatologist: To address joint pain, inflammation, and other musculoskeletal problems.
• Orthopedic surgeon: To treat severe joint dislocations or instability.
• Cardiologist: To address any cardiovascular complications.
• Gastroenterologist: To manage digestive issues.
• Neurologist: To address neurological symptoms.
• Physical therapist: To improve strength, mobility, and pain management.
• Occupational therapist: To assist with daily living activities and adaptive strategies.
• Pain management specialist: To address chronic pain.
• Mental health professional: To address the psychological impact of living with a chronic condition.

8. Seeking a Second Opinion

If you suspect you have EDS and your doctor is not knowledgeable about it, or if you are unsure of the diagnosis, seeking a second opinion from a specialist is highly advisable. It is essential to advocate for yourself and insist on getting a thorough evaluation. Finding specialists or clinics that specialize in EDS or connective tissue disorders can be invaluable. You can use resources like the Ehlers-Danlos Society website to locate doctors who have experience with EDS.

Important Considerations After Diagnosis

An EDS diagnosis is often just the beginning of a long journey. It’s important to:

• Educate yourself: Learn as much as you can about EDS, its various subtypes, and its management.
• Join a support group: Connecting with others who have EDS can provide valuable emotional support and practical advice.
• Develop a personalized management plan: Work with your healthcare team to create a comprehensive plan that addresses your specific needs.
• Focus on self-care: Prioritize rest, stress management, and a healthy lifestyle.
• Be patient and compassionate with yourself: Living with EDS can be challenging, so it’s important to be kind to yourself.

Conclusion

Diagnosing Ehlers-Danlos Syndrome is often a complex and challenging process that requires a comprehensive approach. It involves a detailed medical history, thorough physical examination, application of diagnostic criteria, and, in some cases, genetic testing. A multidisciplinary team of healthcare providers is essential for diagnosis and management. While there is no cure for EDS, early diagnosis and appropriate management can improve quality of life, prevent serious complications, and empower individuals to lead fulfilling lives. It is important to remember that you are your best advocate. Don’t be afraid to seek help and continue to learn about this complicated condition. With patience and persistence, you can unlock the puzzle of your health.