Getting Diagnosed with EDS: Tests, Criteria, and Specialists

Ehlers-Danlos Syndromes (EDS) are a group of heritable connective tissue disorders that can significantly impact a person's life. For many, the journey to an EDS diagnosis is long and challenging, often marked by years of unexplained symptoms and misdiagnoses. This article aims to demystify the diagnostic process for hypermobile Ehlers-Danlos Syndrome (hEDS), the most common type, by outlining the key criteria, the role of specialists, common diagnostic hurdles, and strategies for self-advocacy. For more, see our Hypermobility Spectrum Disorder.

Understanding Hypermobile Ehlers-Danlos Syndrome (hEDS)

hEDS is characterized by generalized joint hypermobility, skin involvement, and other systemic manifestations. Unlike other types of EDS, there is currently no specific genetic test for hEDS, making clinical evaluation crucial for diagnosis [1]. The diagnostic process relies on a set of criteria established in 2017 by the International Consortium on Ehlers-Danlos Syndromes.

The 2017 Diagnostic Criteria for hEDS

The 2017 diagnostic criteria for hEDS are designed to improve diagnostic accuracy and consistency. A diagnosis of hEDS requires the simultaneous presence of three main criteria [2]:

Criterion 1: Generalized Joint Hypermobility (GJH)

This is assessed using the Beighton Score, a 9-point scoring system that evaluates the flexibility of specific joints. A positive Beighton score is typically ≥5/9 for adults, ≥6/9 for pre-pubertal children and adolescents, and ≥4/9 for adults over 50 [3].

Beighton Score Assessment:

Criterion 2: Two or More Characteristic Features

This criterion requires the presence of at least two of the following three features:

• Feature A: Systemic Manifestations of a More Generalized Connective Tissue Disorder. This includes a combination of at least five signs such as unusually soft or velvety skin, mild skin hyperextensibility, unexplained striae, bilateral piezogenic papules of the heel, atrophic scarring, recurrent hernias, and pelvic floor/rectal/uterine prolapse. Marfanoid features like dental crowding, high/narrow palate, mitral valve prolapse, arachnodactyly, and aortic root dilatation are also considered.
• Feature B: Positive Family History. One or more first-degree relatives must independently meet the current criteria for hEDS.
• Feature C: Musculoskeletal Complications. This includes musculoskeletal pain in two or more limbs recurring daily for at least three months, widespread pain for three months or more, or recurrent joint dislocations/subluxations in the absence of trauma.

Criterion 3: Exclusion of Other Diagnoses

This crucial criterion requires the absence of unusual skin fragility (which would suggest other types of EDS), exclusion of other heritable and acquired connective tissue disorders (e.g., Lupus, Rheumatoid Arthritis, Marfan syndrome, Osteogenesis Imperfecta), and exclusion of alternative diagnoses that may explain the symptoms.

The Role of a Geneticist in EDS Diagnosis

While hEDS is diagnosed clinically, a geneticist plays a vital role in the diagnostic process, especially for other types of EDS. Geneticists can:

• Confirm other EDS types: For the rarer forms of EDS (e.g., Classical, Vascular, Kyphoscoliotic), genetic testing can identify specific gene mutations, providing a definitive diagnosis [1].
• Rule out other conditions: Genetic testing can help differentiate EDS from other connective tissue disorders with overlapping symptoms, preventing misdiagnosis.
• Provide genetic counseling: Geneticists can explain inheritance patterns, assess risks for family members, and discuss reproductive options.

It's important to note that for hEDS, the absence of a known genetic marker means that genetic testing is primarily used to rule out other conditions rather than confirm hEDS itself.

Why EDS is Frequently Missed or Misdiagnosed

The path to an EDS diagnosis is often protracted, with many patients experiencing significant delays and misdiagnoses. Several factors contribute to this challenge:

• Lack of Awareness: Many healthcare providers, particularly those in general practice, may not be familiar with EDS or its diverse manifestations. This lack of awareness can lead to symptoms being attributed to other, more common conditions like fibromyalgia, chronic fatigue syndrome, or anxiety [4].
• Variable Presentation: EDS symptoms can vary widely among individuals, even within the same family. This variability makes it difficult to recognize a consistent pattern, further complicating diagnosis.
• Multi-systemic Nature: EDS affects multiple body systems, leading to a wide array of seemingly unrelated symptoms. Patients often see numerous specialists for different issues, none of whom may connect the dots to an underlying connective tissue disorder.
• Absence of a Biomarker for hEDS: As mentioned, the lack of a specific genetic test for hEDS means the diagnosis relies entirely on clinical criteria, which can be subjective and require a thorough understanding of the syndrome.
• Gender Bias: Some research suggests that women with EDS may be diagnosed later because their pain and other symptoms are sometimes dismissed or attributed to psychological factors [5].

Advocating for Yourself at Appointments

Navigating the healthcare system with a complex, often misunderstood condition like EDS requires proactive self-advocacy. Here are strategies to empower yourself:

• Be Prepared: Before appointments, create a detailed list of your symptoms, their onset, severity, and any factors that worsen or improve them. Include a family history of similar issues.
• Bring Documentation: Gather relevant medical records, test results, and a list of all medications and supplements you are taking.
• Educate Yourself: Learn as much as you can about EDS from credible sources (e.g., The Ehlers-Danlos Society, Mayo Clinic, Cleveland Clinic). This knowledge will help you understand your condition and communicate effectively with your doctors.
• Bring a Support Person: Having a trusted friend or family member with you can provide emotional support, help you remember questions, and take notes during the appointment.
• Be Assertive, Yet Respectful: Clearly articulate your concerns and advocate for thorough evaluation. If you feel your concerns are not being heard, politely request a second opinion or a referral to a specialist familiar with EDS.
• Ask for Referrals: If your current doctor is not knowledgeable about EDS, ask for a referral to a geneticist, rheumatologist, or other specialist who has experience with connective tissue disorders.
• Keep a Symptom Journal: Documenting your symptoms, pain levels, and their impact on daily life can provide valuable information for your healthcare team.

Key Takeaways

| Key Takeaway | |---|---| | hEDS diagnosis is clinical, relying on the 2017 criteria and Beighton Score, as no genetic test exists for this type. | | Geneticists are crucial for diagnosing other EDS types and ruling out similar conditions. | | Misdiagnosis is common due to lack of awareness, variable symptoms, and the multi-systemic nature of EDS. | | Effective self-advocacy, including thorough preparation and seeking specialist referrals, is vital for a timely diagnosis. | | Empower yourself with knowledge and documentation to navigate the diagnostic journey more effectively. |

References

[1] The Ehlers-Danlos Society. Genetics and Inheritance of EDS and HSD. https://www.ehlers-danlos.com/genetics-and-inheritance/ [2] The Hypermobility Syndromes Association. hEDS diagnostic criteria. https://www.hypermobility.org/heds-diagnostic-criteria [3] The Ehlers-Danlos Society. Assessing Joint Hypermobility. https://www.ehlers-danlos.com/assessing-joint-hypermobility/ [4] Lee, C. (2025). The Incidence of Misdiagnosis in Patients with Ehlers–Danlos Syndrome. https://pmc.ncbi.nlm.nih.gov/articles/PMC12191865/ [5] CNN. (2022, December 24). Ehlers-Danlos syndrome affects millions. Why isn't the medical community catching up?. https://www.cnn.com/2022/12/24/health/hypermobile-ehlers-danlos-syndrome-health-hnk-spc-dst-intl