Understanding Ehlers-Danlos Syndrome and Hypermobility
Unveiling the Invisible Struggle
In the realm of medical conditions, there exist many that are visible and well-understood, while others remain veiled in mystery, their complexities often misunderstood. Ehlers-Danlos Syndrome (EDS) and hypermobility fall into this latter category. Despite being relatively common, these conditions often go undiagnosed or misdiagnosed, leaving those affected grappling with uncertainty and misunderstanding. Some doctors will say that they don’t “believe” in EDS. How does that work? Is it the same as choosing not to believe in gravity? Because they both still happen regardless of belief.
Understanding Ehlers-Danlos Syndrome (EDS):
Ehlers-Danlos Syndrome is a group of genetic connective tissue disorders characterized by joint hypermobility, skin hyperextensibility, and tissue fragility. Connective tissues provide support and structure to the body, including the skin, joints, blood vessels, and organs. Connective tissue is the most abundant and diverse type of tissue in the human body. In individuals with EDS, genetic mutations affect the production of collagen or other proteins in connective tissues, leading to a wide range of symptoms and complications. The wide rage of presentations often lead people with EDS to be misdiagnosed with fibromyalgia, chronic fatigue syndrome, anxiety, migraines, POTS (postural orthostatic hypotension), IBS (irritable bowel syndrome) and frequently told that it’s all in their head.
Types of Ehlers-Danlos Syndrome:
There are several distinct types of EDS, each with its own unique features and underlying genetic mutations. These include:
Classical EDS: Characterized by skin hyperextensibility, joint hypermobility, and skin fragility with easy bruising.
Hypermobility EDS (hEDS): Primarily characterized by joint hypermobility, often without significant skin involvement.
Vascular EDS: Involves fragile blood vessels and organs, predisposing individuals to life-threatening complications such as arterial ruptures and organ rupture.
And several other rare types: These include kyphoscoliotic EDS, arthrochalasia EDS, and dermatosparaxis EDS, each with its own distinct features and complications.
It is estimated that 1 in every 5,000 people has EDS and I would argue that there are likely significantly more people than that due to rampant misdiagnosis.
Symptoms of Ehlers-Danlos Syndrome:
The symptoms of EDS can vary widely among individuals and may include:
Joint hypermobility, leading to frequent dislocations and subluxations.
Chronic joint pain and instability.
Skin hyperextensibility and easy bruising.
Chronic fatigue and muscle weakness.
Gastrointestinal issues such as GERD and irritable bowel syndrome.
Dysautonomia, including orthostatic intolerance and autonomic dysfunction.
Complications related to fragile blood vessels and organs (in vascular EDS).
Diagnosis and Management:
Diagnosing EDS can be challenging due to its wide range of symptoms and overlap with other conditions. A thorough medical history, physical examination, and genetic testing are often necessary for an accurate diagnosis. Management typically involves a multidisciplinary approach, including physical therapy, pain management, nutritional support and lifestyle modifications.
Ehlers-Danlos Syndrome and hypermobility represent complex and often misunderstood conditions that can significantly impact individuals' quality of life. Many of my patients have heard me talk about my struggles with hEDS and how I am teaching kids to use their bodies differently to support their joints for their whole lives.
Dr. Roz Donovan is a graduate of National University of Natural Medicine, with a doctorate in Naturopathic Medicine. Throughout her doctoral studies, Dr. Donovan received hands-on training from herbalists and a botanist, while also interning in mental health, environmental medicine, pediatrics and general medicine. Her advanced training mentorships focused on traumatic brain injury, mental health disorders and gastrointestinal health.
Dr. Donovan’s blog posts are for educational purposes only and are not intended as medical advice. Please consult with your health care practitioner for personalized guidance.
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