Welcome to the Bendy Club blog! This week, we’re focusing on one of the most crucial steps for anyone experiencing symptoms of hypermobility spectrum disorder (HSD) and Ehlers-Danlos syndrome (EDS): getting the right diagnosis. Getting the right diagnosis for HSD EDS can be a great first step toward effective management and improved quality of life.
The Importance of a Proper Diagnosis
Receiving an accurate diagnosis for HSD and EDS can be life-changing. It can validate your symptoms, provide a clear path for treatment, and connects you with the appropriate medical resources and support networks. For many, it can end years of frustration and uncertainty.
Key Point: HSD and hEDS present with a wide range of often similar symptoms and challenges. They both can present with more mild or severe symptoms in different individuals with the same diagnosis.
Recognizing Symptoms Early
Early recognition of hypermobility, regardless of the specific diagnosis, is crucial to avoid years of improper management. Many people struggle with various symptoms for years, seeing specialist after specialist. Once they are finally diagnosed with hypermobility they realize that all these “separate” symptoms are actually all manifestations of the same issue. Symptoms can include:
- Chronic pain in multiple body parts without a history of trauma (car accidents, etc.)
- Muscle spasms
- A constant feeling of “If I could just Pop it would feel better”
- Recurring dizziness, lightheadedness, and palpitations
- Chronic fatigue
- Gastrointestinal issues
- Skin that is extra stretchy, fragile, or easily bruised
- Frequent injuries like sprains and dislocations
- Anxiety
- Skin rashes, flushing, and itching from Mast Cell Dysfunction
- Headaches
- Any many more…
Steps to Getting the Right Diagnosis for HSD and EDS
- Document Your Symptoms: Keep a detailed log of your symptoms, including when they occur, their severity, and any potential triggers. This information will be invaluable to your healthcare provider. Symptoms like joint instability, dizziness and lightheadedness, tachycardia, skin flushing or allergy symptoms, numbness tingling, diagnosis of autoimmune diseases all can help demonstrate the possibility of HSD or EDS.
- Research Specialists: Finding a healthcare professional knowledgeable about HSD and EDS is crucial. Most physicians don’t have any experience with hypermobility. I have even had patients tell me other doctors have told them during their appointments they don’t even believe it is real. The EDS website does have a directory here https://www.ehlers-danlos.com/healthcare-professionals-directory/
- Prepare for Your Appointment: Bring your symptom log, a list of questions, and any relevant medical records to your appointment. Be ready to discuss your medical history in detail.
- Understand Diagnostic Criteria: Familiarize yourself testing criteria. Understanding these criteria can help you advocate for yourself during the diagnostic process. Neither, HSD or hEDS have clear genetic markers that confirm the diagnosis. The diagnosis of HSD is mostly based on the Beighton Score although this test is not perfect and can miss certain cases. Whereas hEDS is more complicated to diagnose. Currently we are using the 2017 International Criteria for Hypermobile Ehlers-Danlos Syndrome. It is a checklist with multiple physical exam findings and other patient symptoms. Your provider should go through the checklist and if you “get enough points” then you would qualify for the diagnosis. There are other forms of EDS including Vascular or Classical EDS do have genetic markers that can confirm the diagnosis. This would require the patient to work with a geneticist for an accurate diagnosis. Differentiating between HSD and hEDS can be helpful in some circumstances, but again not completely necessary as both can have the same symptoms.
- Seek a Second Opinion: If your initial consultation does not result in a diagnosis or if you feel your concerns were not addressed, do not hesitate to seek a second opinion. Finding a knowledgeable and empathetic healthcare provider is key.
Patient Story
One of my patients, Alexis, spent years experiencing unexplained joint pain and fatigue. After seeing numerous orthopedic specialists and receiving various misdiagnoses including bursitis, tendonitis, and arthritis that did not fully explain her chronic multi-joint pain, she finally was diagnosed with hEDS. With a proper diagnosis, Alexis was able to receive targeted treatment and join support groups, significantly improving her quality of life.
Share Your Journey
We encourage you to share your experiences, specifically how long it took you to get a diagnosis, and connect with others on our social media platforms. By building a supportive community, we can help each other navigate the challenges of living with HSD and EDS.
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Ready to Take the Next Step?
For those seeking personalized guidance, our 1-on-1 coaching program offers tailored support to address your specific needs. With expert advice and a comprehensive plan, you’ll gain the tools and confidence to manage HSD and EDS and live your best life. Learn more and sign up here.
Thank you for being part of the Bendy Club. Together, we can make a difference!
Warm regards,
The Hypermobile Solutions Team
References
The Ehlers-Danlos Society. Diagnostic Criteria for Ehlers-Danlos Syndromes https://www.ehlers-danlos.com/eds-types/
The Ehlers-Danlos Society. The Beighton Score https://www.ehlers-danlos.com/assessing-joint-hypermobility/
Home. The Ehlers Danlos Society. https://www.ehlers-danlos.com/
What is HSD?. The Ehlers Danlos Society. https://www.ehlers-danlos.com/what-is-hsd/
What is eds?. The Ehlers Danlos Society. https://www.ehlers-danlos.com/what-is-eds/
Jovin, D., Atwal, P., Herman, K., Block, N., Maxwell, A. J., Mitakides, J., Maitland, A. M., Saperstein, D., Hamilton, M., Schofield, J., Koby, M., Klinge, P., McElroy, A., Bluestein, L., Chopra, P., Tishler, J., Pocinki, A. G., Varga, J., Dempsey, T., … Lane, K. (2020). Disjointed: Navigating the diagnosis and management of Hypermobile Ehlers-Danlos syndrome and hypermobility spectrum disorders. Hidden Stripes Publications, Inc.
Smith, C., & Wicks, D. (2017). Understanding Hypermobile Ehlers-Danlos syndrome and hypermobility spectrum disorder: (previously known as Ehlers-Danlos Syndrome Hypermobility Type & Joint Hypermobility Syndrome, respectively). Redcliff-House Publications.
Cox, C. (2022). Holding it all together when you’re Hypermobile. Journey2Joy
Disclaimer
This blog is for general informational purposes only and does not constitute the practice of medicine, nursing, or other professional health care services, including the giving of medical advice, and no provider/patient relationship is formed. The use of information on this blog or materials linked from this blog is at the user’s own risk. The content of this blog is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Users should not disregard or delay in obtaining medical advice for any medical condition they may have and should seek the assistance of their health care professionals for any such conditions.