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Just Diagnosed with hEDS?

Updated On:
July 2024
David Harris

Simple FAQs for Newly Diagnosed Hypermobile EDS Patients

1. What is Hypermobile Ehlers-Danlos Syndrome (hEDS)?

Hypermobile Ehlers-Danlos Syndrome (hEDS) is a complex genetic disorder affecting connective tissues. These tissues provide support in skin, tendons, ligaments, blood vessels, internal organs, and bones. hEDS is primarily characterized by joint hypermobility (joints that stretch further than normal), skin hyperextensibility (skin that can be stretched further than normal), and tissue fragility. This condition is part of a group of disorders known as Ehlers-Danlos Syndromes. hEDS is unique due to its focus on joint issues, and while it can vary in severity, it often impacts daily living and quality of life.

2. How is hEDS diagnosed?

Diagnosing hEDS can be challenging as there's no definitive genetic test for the hypermobile type of EDS yet, but many researchers are working to identify the relevant genes. Some genetic markers have already been identified, but it is not yet possible to test for them. For now, the diagnosis is primarily clinical, based on medical history and physical examination. Physicians look for common signs like joint hypermobility, evaluated through a Beighton score, a simple system to quantify joint looseness. They also consider a history of skin involvement and other systemic manifestations of the syndrome. Because hEDS shares symptoms with other EDS types and connective tissue disorders, healthcare professionals often rule out other conditions first. Patients are often misdiagnosed for years.

3. What are the common symptoms of hEDS?

The symptoms of hEDS can vary widely but typically include joint hypermobility, leading to frequent dislocations and subluxations (partial dislocations), chronic pain, often in joints and muscles, skin that is soft, stretchy, and bruises easily, and fatigue. Some individuals may also experience digestive system complications like acid reflux (gastroesophageal reflux) and irritable bowel syndrome. Autonomic dysfunctions such as orthostatic intolerance (difficulty standing upright) and temperature regulation issues are common. It’s important to note that the severity of symptoms can differ greatly from person to person. Some also experience severe allergic like reactions including anaphylaxis due to mast cell disorders. Every patient presents differently which adds to the challenge of diagnosis.

4. Is hEDS different from other types of EDS?

Yes, hEDS is one of several types of Ehlers-Danlos Syndromes, each with distinct characteristics. Some medical literature estimates that hEDS may constitute more than 90% of all EDS cases, but these figures should be taken as approximations. There is no doubt to scientific researchers like Dr. Chip Norris that hypermobility on any spectrum is the “most common disorder you’ve never heard of.” hEDS is also unique in that it is most notably characterized by joint hypermobility, while other types like Classical EDS show more pronounced skin involvement, and Vascular EDS, which is less common, can have serious blood vessel-related complications. The different types of EDS are caused by various genetic changes and affect the body in diverse ways. Diagnosis of the specific type of EDS is crucial for proper management and understanding of individual health risks.

5. Can hEDS be cured?

Currently, there is no cure for hEDS. However, the condition's symptoms and associated complications can usually be managed with an individualized approach tailored to each patient’s needs. Typically, this approach includes proactive lifestyle changes and consultations with a knowledgeable care team. This multidisciplinary team often includes a physical therapist, pain specialist, and sometimes genetic counselors as part of the initial diagnosis. The goal is to manage symptoms and improve quality of life by treating the most burdensome symptoms first while also trying to prevent future injuries and complications. As research continues, there is hope for more targeted therapies in the future. An important part of learning to manage hEDS is finding a community. You can find a support group in your area through the nonprofit EDS Awareness where you can connect with others who are going through the same struggles.

6. What treatment options are available for hEDS?

Physical therapy is crucial and includes exercises to strengthen muscles surrounding joints, thereby improving joint stability and reducing dislocations. Pain management might involve medications, acupuncture, and other complementary therapies. Braces or splints can be used for joint support. Occupational therapy may help with adapting daily activities to reduce strain on joints. In some cases, surgery may be necessary to repair joint damage and stabilize loose joints, although this is typically considered a last resort due to tissue fragility.

7. How does physical therapy help with hEDS?

Physical therapy is a cornerstone of ongoing hEDS management. It aims to strengthen muscles, improve joint stability, and increase overall strength and fitness, which can help reduce the risk of dislocations and manage chronic pain. Therapists can also provide advice on correct posture and joint protection techniques. It’s important that physical therapy is tailored to the individual, as overexertion can exacerbate symptoms. Low-impact exercises like swimming, pilates, or yoga are often recommended. The key is to find a balance that strengthens without causing injury and working with a EDS-aware provider who won’t cause more harm than good by overdoing it. 

8. Are there dietary recommendations for hEDS patients?

While there's no specific diet for hEDS, a well-balanced diet can support overall health and manage some symptoms. For gastrointestinal issues, a diet rich in fiber can help. Some patients may benefit from avoiding foods that trigger symptoms. Others swear by gluten-free and anti-inflammatory diets to reduce inflammation and pain. Staying hydrated is important, especially for those with dysautonomia.

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