Ehlers-Danlos Syndrome (EDS) is a group of hereditary disorders affecting connective tissues, characterized by joint hypermobility and a range of other symtpoms. Given its complexity and the wide spectrum of symptoms and associated conditions, finding specialized care is often difficult for individuals living with EDS. This article addresses a few important questions often asked by those seeking specialized EDS care:

• How do I get an official EDS diagnosis?
• Who is the best person to diagnose EDS?
• What kind of doctor manages EDS?
• Why is it so hard to get an EDS diagnosis

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A. How do I get an official EDS diagnosis?

Obtaining an official diagnosis of Ehlers-Danlos Syndrome (EDS) can be a detailed process, requiring a combination of clinical evaluation, family and medical history assessment, and possibly genetic testing. Here’s a step-by-step guide to navigating the path toward an official EDS diagnosis:

1. Gather Your Medical History

Start by compiling a detailed medical history, including any symptoms of joint hypermobility, skin elasticity, easy bruising, and other EDS-related symptoms you've experienced. It's also helpful to gather any relevant family medical history, as EDS can be hereditary.

2. Document Your Symptoms

Keep a record of your symptoms, including when they began, their frequency, and how they impact your daily life. Photos of visible symptoms (like skin elasticity or scars) can be useful. This documentation will be invaluable when communicating with healthcare professionals.

3. Seek Referral to a Specialist

Primary care physicians may not have the specialized knowledge required to diagnose EDS, so ask for a referral to a specialist. Depending on your symptoms, you might be referred to a geneticist, rheumatologist, or another specialist familiar with connective tissue disorders.

4. Clinical Evaluation

A specialist will conduct a thorough clinical evaluation, which may include:

• Physical examination: Checking for common EDS signs, such as hypermobile joints (using the Beighton score as a guide), skin hyperextensibility, and other related features.
• Review of medical and family history: To identify patterns or symptoms that align with EDS or related hereditary disorders.
• The 2017 International Classification for the Ehlers-Danlos Syndromes proposes specific criteria for diagnosing different types of EDS. For hEDS, the criteria include generalized joint hypermobility, systemic manifestations of a more generalized connective tissue disorder, and a family history, among others. Your specialist will evaluate whether your symptoms meet the criteria for an EDS diagnosis.

5. Genetic Testing

For some types of EDS, genetic testing can confirm a diagnosis. This involves taking a blood sample to look for mutations in specific genes associated with EDS. However, for the most common type, Hypermobile EDS (hEDS), there is currently no genetic test available, so the diagnosis is based on clinical criteria.

6. Follow-up and Management

After diagnosis, your specialist should provide guidance on managing EDS symptoms and may refer you to other healthcare professionals for comprehensive care. This can include physical therapists, pain management specialists, and others as needed.

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Tips for Navigating the EDS Diagnosis Process:

• Be Persistent: Seeking an EDS diagnosis can be frustrating and time-consuming. Persistence is key.
• Seek Support: Connect with EDS support groups and communities. They can offer advice, share their experiences, and provide emotional support.
• Educate Yourself: Learning about EDS can help you advocate for yourself throughout the diagnostic process.

Remember, getting an official EDS diagnosis can take time due to the complexity of the syndrome and the need for thorough evaluation. However, an accurate diagnosis is crucial for effective management and treatment of the condition.

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B.  Who is the best person to diagnose EDS?

Although any doctor can technically diagnose EDS, most of the time patients need to find a doctor who has a personal interest in EDS to get a diagnosis. As we explain below, it can be challenging for doctors to diagnose EDS so the best person to diagnose EDS is actually any doctor who is really dedicated to the EDS community.  Other medical providers are often quite good at identifying patients with EDS. In fact, physical therapists are often the first to notice that a patient has hypermobile joints.  Hypermobile joints or being “double jointed’ is one of the red flags for Ehlers-Danlos Diagnosis. Experienced EDS Patients are very familiar with the symptoms so they are often very good at recognizing possible EDS cases, but you should speak with your doctor to get a formal evaluation.

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C.  What kind of doctor manages Ehlers-Danlos Syndrome?

Theoretically, most medical doctors should be able to diagnose EDS and HSD, but in practice most do not feel comfortable giving a diagnosis of Ehlers-Danlos Syndrome.  Due to the syndrome's multifaceted nature, managing Ehlers-Danlos Syndrome often requires a team of healthcare professionals. This team may include:

Primary Care Providers

Primary care providers should be able to screen patients for EDS using the Beighton score criteria, which may help them refer patients for additional evaluations by a specialist.

Geneticists

Geneticists can diagnose the rare types of EDS that have a known genetic basis, although the most common forms cannot yet be identified through genetic testing.

Allergists & Immunologists

Allergists and immunologists manage a wide variety of immunological issues that often accompany Ehlers-Danlos Syndrome, including Mast Cell Activation Syndrome.

Rheumatologists

Rheumatologists typically treat patients with autoimmune conditions like rheumatoid arthritis or lupus and are sometimes familiar with EDS, helping to manage joint hypermobility and related musculoskeletal pain.

Cardiologists

Cardiologists diagnose and manage the cardiovascular manifestations of EDS, such as POTS (Postural Orthostatic Tachycardia Syndrome), along with other cardiovascular issues like mitral valve prolapse or aortic root dilation, ensuring heart health is maintained.

Neurologists

Neurologists address neurological problems related to EDS, including chronic headaches and nerve damage, by providing specialized treatments to alleviate these symptoms.

Pain Management Specialists

Pain management specialists help EDS patients manage chronic pain through interventions including medications, physical therapies, and sometimes invasive procedures.

Physical Therapists

Physical therapists design personalized exercise programs to strengthen muscles and stabilize joints, preventing injuries and reducing pain for EDS patients.

Occupational Therapists

Occupational therapists assist EDS patients in improving their daily activities through adaptive techniques and equipment, enhancing quality of life and reducing joint strain.

Gastroenterologists

Gastroenterologists manage gastrointestinal issues common in EDS, such as gastroparesis, IBS, SIBO, and celiac disease, with treatments ranging from dietary management to medications.

Psychologists

Psychologists support the mental health of EDS patients, offering strategies for coping with the disease's chronic nature including how living with chronic illness can lead to anxiety, depression, and even PTSD.

Ophthalmologist

An ophthalmologist performs eye exams to identify vision problems and structural changes in the eyes of EDS patients, recommending corrective treatments to improve vision and prevent further eye issues.

Dentist

A dentist offers routine dental care and specialized treatments to maintain oral health for EDS patients, emphasizing the prevention of gum disease and management of EDS-specific dental problems, especially for patients with periodontal EDS. They may also be the first to notice the dental crowding and high or narrow palate that is associated with EDS.

Sleep Center Specialists

Sleep center specialists diagnose and treat sleep disturbances in EDS patients, like sleep apnea and insomnia, to improve sleep quality and overall health.

Women’s Health Specialists

Women's health specialists focus on the specific health needs of women with EDS, including pregnancy management, pelvic floor dysfunction, and hormonal considerations.

Pelvic Floor Therapists

Pelvic floor therapists specialize in strengthening the pelvic floor muscles to alleviate EDS-exacerbated symptoms like incontinence and pelvic pain.

Dermatologists

Dermatologists care for skin symptoms associated with EDS, managing elasticity, fragility, and wound care to maintain skin health and manage scarring.

Each of these specialists plays a vital role in the multidisciplinary care approach necessary for managing Ehlers-Danlos Syndrome, addressing the wide array of symptoms and comorbidities associated with this complex condition.

Other EDS Specialists

Each of these specialists plays a vital role in the multidisciplinary care approach necessary for managing Ehlers-Danlos Syndrome, addressing the wide array of symptoms and comorbidities associated with this complex condition, but there may be other types of specialists that a patient may need to see depending on the presentation and severity of their conditon. It's also important to recognize that patient communities also play an important role in improving outcomes and sharing knowledge to improve access to quality medical care.
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D. Why is it so hard to get an EDS diagnosis?

1. Variability of Symptoms

EDS encompasses a group of disorders, each with its own set of symptoms and genetic causes. Even within a single type of EDS, symptoms can vary widely from person to person. This variability can make it hard to pinpoint EDS as the cause of a patient's symptoms, leading to misdiagnosis or a long journey to the correct diagnosis.

2. Lack of Awareness and Expertise

There is a general lack of awareness and expertise about EDS among healthcare professionals. Many doctors are not familiar with the latest diagnostic criteria or may only be aware of the most common manifestations, such as joint hypermobility and skin elasticity. This can lead to underdiagnosis or misdiagnosis, as symptoms may be attributed to more common conditions.

3. Overlap with Other Conditions

The symptoms of EDS often overlap with those of other conditions, such as fibromyalgia, chronic fatigue syndrome, and various autoimmune disorders. This can complicate the diagnostic process, as it can be difficult to determine whether symptoms are due to EDS, another condition, or a combination of conditions.

4. Lack of Specific Tests

For most types of EDS, there are no simple, definitive tests. While genetic testing can confirm some types of EDS, the most common type, Hypermobile EDS (hEDS), does not have a specific genetic marker identified for testing. Diagnosis is therefore based on clinical evaluation and meeting specific criteria, which requires a thorough and often time-consuming assessment by a knowledgeable professional.

5. Historical Bias and Misconceptions

Patients, especially women, often face biases and misconceptions when seeking a diagnosis for chronic, complex conditions. Symptoms may be dismissed as psychological or attributed to stress or anxiety, which can delay a proper diagnosis and treatment.

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How can we improve access to quality medical care for EDS? 

Efforts are underway to improve the diagnosis of EDS, including increasing awareness and education among healthcare professionals, advocating for patient-centered care, and promoting research to better understand the genetic and clinical aspects of the syndrome. For patients struggling to get a diagnosis, connecting with EDS advocacy groups and seeking out healthcare providers with expertise in EDS can be helpful steps. One of the ways these challenges may be solved is through the Ehlers-Danlos Society’s Centers and Networks of Excellence program which we explain below.

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Sources:

1. Tinkle, B., et al. (2016). Hypermobile Ehlers-Danlos syndrome: Clinical description and natural history. American Journal of Medical Genetics Part C: Seminars in Medical Genetics, 172C(1), 48–69. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4952841/
2. Malfait, F., et al. (2017). The 2017 international classification of the Ehlers–Danlos syndromes. American Journal of Medical Genetics Part C: Seminars in Medical Genetics, 175C(1), 8-26. https://onlinelibrary.wiley.com/doi/10.1002/ajmg.c.31552
3. National Center for Advancing Translational Sciences. (2021). Hypermobile Ehlers-Danlos syndrome. Genetic and Rare Diseases Information Center. https://rarediseases.info.nih.gov/diseases/2081/hypermobile-ehlers-danlos-syndrome/diagnosis