Could It Be hEDS? Why Hypermobile Ehlers-Danlos Syndrome Is Often Misdiagnosed or Overlooked
- Dr. Tessaundra Steinhebel
- 3 days ago
- 4 min read
Description
Hypermobile Ehlers-Danlos Syndrome (hEDS) is one of the most underrecognized connective tissue disorders. Because its symptoms overlap with many other conditions, it is frequently misdiagnosed or dismissed for years. This article explores how hEDS is properly diagnosed, why it’s so often overlooked, and which conditions it can mimic.
What is Hypermobile Ehlers-Danlos Syndrome (hEDS)?
Hypermobile Ehlers-Danlos Syndrome (hEDS) is a heritable connective tissue disorder characterized by joint hypermobility, chronic pain, soft or stretchy skin, and a variety of systemic symptoms involving the gastrointestinal, cardiovascular, and nervous systems.
Facts and Prevalence:
hEDS is estimated to affect 1 in 3,100 to 1 in 5,000 people, though the true number is likely higher due to underdiagnosis.
It is the most common subtype of the Ehlers-Danlos syndromes, accounting for about 80–90% of cases.
hEDS is diagnosed more frequently in females and often becomes symptomatic in adolescence or early adulthood.
Diagnosis of Exclusion:
Unlike other forms of EDS, no specific genetic test exists for hEDS. Diagnosis is based on clinical criteria (per the 2017 International Classification), which require:
Generalized joint hypermobility (via Beighton scoring or equivalent).
Characteristic systemic features such as soft skin, atrophic scarring, chronic pain, or family history.
Exclusion of other connective tissue and autoimmune disorders such as Marfan Syndrome, Loeys-Dietz, and classical EDS.
Because the condition relies on symptom-based criteria and ruling out other causes, it is considered a diagnosis of exclusion—meaning many patients go years without recognition.
Why is hEDS Often Missed?
Variable presentation: Symptoms differ widely between patients - from mild joint instability to severe pain, fatigue, or digestive issues.
Lack of genetic markers: Without a confirmatory lab test, clinicians must rely on detailed history and physical findings.
Overlap with other conditions: hEDS shares features with fibromyalgia, chronic fatigue syndrome, and autoimmune conditions.
Bias in care: Many hEDS patients, particularly women, report that their symptoms were dismissed as anxiety or psychosomatic.
Limited physician training: Few providers receive in-depth education on connective tissue disorders in medical school.
Conditions Commonly Mistaken for hEDS:
Fibromyalgia – Similar chronic pain and fatigue, but lacks joint hypermobility.
Chronic Fatigue Syndrome (ME/CFS) – Shares post-exertional fatigue and autonomic issues.
Marfan Syndrome – Connective tissue disorder with tall stature and cardiac involvement, but distinct genetic cause.
Loeys-Dietz Syndrome – Can mimic hEDS but involves arterial tortuosity and aneurysms.
Benign Joint Hypermobility Syndrome (BJHS) – Considered part of the same spectrum, but hEDS involves more systemic features.
Autoimmune Conditions (e.g., lupus, rheumatoid arthritis) – May overlap symptomatically, but have specific inflammatory markers.
Getting a Comprehensive Evaluation for hEDS:
At PCNM, a thorough evaluation goes beyond the Beighton score. Your naturopathic physician may assess:
A full musculoskeletal exam for joint instability.
Family history of connective tissue disorders.
Screening for thyroid function, anemia, and nutrient deficiencies.
Hormone and adrenal testing for fatigue or pain modulation.
Food intolerance and microbiome testing, as gut health often affects connective tissue resilience.
Common Prescription Approaches:
Conventional care often focuses on symptom management using:
Pain medications (NSAIDs, muscle relaxants) – Temporary relief, but long-term use can cause digestive and kidney issues.
Antidepressants or anticonvulsants (for neuropathic pain) – May help nerve pain but can cause sedation, dizziness, or mood changes.
These do not address the underlying connective tissue dysfunction or systemic inflammation driving symptoms.
Naturopathic Support for hEDS:
Naturopathic medicine emphasizes treating the whole person, not just the diagnosis. By addressing tissue integrity, inflammation, nervous system regulation, and digestion, individualized care can make a significant difference.
Dietary Recommendations:
Protein-rich foods (fish, eggs, legumes) for collagen formation.
Vitamin C sources (bell peppers, kiwi, citrus) to aid collagen cross-linking.
Minerals such as zinc, copper, and manganese for connective tissue strength.
Omega-3 fats to reduce inflammation.
Stay hydrated with electrolyte-rich fluids to support joint and vascular stability.
Lifestyle Recommendations:
Gentle, consistent movement such as Pilates, swimming, or walking to build stability without stressing joints.
Stress reduction through breathwork or meditation.
Prioritize rest and balanced pacing to prevent flares.
Herbal Remedies:
Gotu Kola – Enhances connective tissue repair.
Boswellia & Turmeric – Reduce inflammation and joint pain.
Chamomile & Skullcap – Calm the nervous system and ease muscle tension.
Constitutional hydrotherapy to improve circulation and tissue oxygenation.
Contrast showers or Epsom salt baths for pain relief and detoxification.
How Individualized Care at PCNM Can Help:
At Pacific Clinic of Natural Medicine, we understand that hEDS requires more than symptom suppression. It demands an integrative, investigative approach.
We work as a team to uncover underlying contributors to pain, fatigue, and instability.
We help reduce the need for pharmaceuticals that often carry unwanted side effects.
We empower patients through education, self-care tools, and long-term support.
Our goal is not just to manage hEDS, but to help you thrive with it.
References:
Hakim, A., & Grahame, R. Hypermobile Ehlers-Danlos Syndrome. GeneReviews®, NCBI (2024).
The Ehlers-Danlos Society. 2017 International Classification of the Ehlers-Danlos Syndromes.
Guedry, S. E., et al. “Integrative Medicine for Hypermobility Spectrum Disorders.” Disability & Rehabilitation (2024).
Practical Gastroenterology (2024). Nutritional Considerations for Hypermobile Ehlers-Danlos Syndrome.
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