Diagnosing Ehlers-Danlos Syndrome: Overcoming Challenges

Hyperflexibility might sound like a superpower, but for many, it's a sign of an underlying condition called Ehlers-Danlos Syndrome (EDS). This genetic disorder affects the body's connective tissue, which is responsible for supporting and structuring the body's organs, joints, and skin.

It's considered rare, but knowing it's a syndrome with an overwhelming degree of misdiagnosis and symptoms which exist on a spectrum, it's likely we don't have the full picture of the impact of this condition.

What is Ehlers-Danlos Syndrome?

EDS is a group of inherited disorders that affect connective tissues—primarily the skin, joints, and blood vessel walls. EDS affects the body's ability to produce collagen, an essential protein that gives our tissues structure and strength.

While EDS can manifest in a myriad of ways, its hallmark feature is often hyperflexibility, which can range from mild to severe.

Aside from hyperflexibility, other common symptoms of EDS include joint pain and instability, skin that is smooth and velvety to the touch, easy bruising, frequent dislocations and subluxations (partial dislocation), chronic fatigue, digestive issues, and cardiac problems.

Despite how debilitating its symptoms can be, EDS isn't well understood in the conventional medical world, which makes it difficult to diagnose and treat (1).

Types of EDS and Their Symptoms

Ehlers-Danlos Syndrome isn't a one-size-fits-all diagnosis. It encompasses a group of 13 different types, each with its own set of symptoms and genetic causes. Here are some of the most well-known types (2):

Classical EDS (cEDS): Characterized by skin hyperextensibility (stretchy skin), indented scars from injuries due to impaired tissue regeneration, and joint hypermobility.
Hypermobility EDS (hEDS): The most common type (accounting for about 90% of cases), marked by joint hypermobility, chronic pain, and frequent joint dislocations.
Vascular EDS (vEDS): The most severe form, involving fragile blood vessels and organs, leading to a higher risk of ruptures and life-threatening complications.
Kyphoscoliotic EDS (kEDS): Features include severe low muscle tone at birth, scoliosis, and fragile eyes.

Each type of EDS has its own genetic mutation, and symptoms can vary widely even within the same type. This diversity complicates the diagnostic process, as there is no single test that can confirm the presence of EDS. Postural tachycardia syndrome (POTS), mast cell activation syndrome, and cervical instability are also common co-occurring conditions with EDS (3).

Read: Missed Pediatric Diagnosis: MCAS, POTS, & Pelvic Congestion Syndrome

More Ehlers-Danlos Symptoms

Each type of Ehlers-Danlos has its own symptoms, but there can often be much overlap. Here are some of the additional symptoms associated with EDS (4,5):

Chronic pain
Joint instability
Skin bruising or tearing
Cardiac complications (mitral valve prolapse or aortic aneurysms)
Food sensitivities
Gastroparesis
Vertigo
Tunnel vision upon standing
Sternum pain
Costochondritis (inflammation of the cartilage where the chest joins the sternum causing pain and a 'popping' sensation)
Tingling in hands or feet
Insomnia
Mast cell activation (hives, other allergic-type symptoms with no clear cause)
Anxiety

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Challenges in Diagnosing EDS

One of the biggest challenges in diagnosing EDS is that its symptoms often overlap with other conditions like fibromyalgia, chronic fatigue syndrome, and rheumatoid arthritis. It can take over 10 years for a patient to receive the correct diagnosis, and many healthcare providers may not even consider EDS, especially when the symptoms are mild or non-specific.

There is also a lack of awareness and understanding about EDS among healthcare professionals. It’s not uncommon for people with EDS to go through multiple doctors before receiving a correct diagnosis. The most common misdiagnoses for EDS are anxiety, depression, and migraines (6).

The symptoms of EDS can vary greatly from person to person, even among those with the same subtype. This makes it difficult for doctors to recognize patterns and accurately diagnose someone with the condition.

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Genetic Testing in Diagnosis

One helpful tool in diagnosing EDS is genetic testing. Since each type of EDS has a specific genetic mutation, finding it can confirm the presence of the condition. However, this type of testing is not always readily available or covered by insurance, and it also cannot confirm or rule out all types of EDS.

Different mutations in the COL1A1/COL1A2 genes play a role in the formation of type I collagen (the most abundant form of collagen in the body). This mutation can result in a phenotype of classical type EDS (7).

Another approach sometimes used to diagnose the classic EDS is analyzing type I, III, and V collagens derived from a skin biopsy (8). Other diagnostic methods include evaluating family medical history, physical examination, and ruling out other conditions with similar symptoms.

The Functional and Integrative Medicine Approach to EDS Diagnosis and Treatment

Functional and integrative medicine approaches offer promising avenues for both diagnosing and managing EDS. These approaches focus on the whole person rather than isolated symptoms, considering genetic, environmental, and lifestyle factors that may contribute to the condition.

Comprehensive Evaluations

Functional medicine practitioners often conduct comprehensive evaluations, including detailed medical histories, genetic testing, and advanced imaging techniques to identify the root causes of symptoms.

Personalized Treatment Plans

Based on these evaluations, personalized treatment plans are developed to address the unique needs of each patient. These plans may include dietary changes, physical therapy, supplements, and even mind-body practices like yoga or meditation.

Explore the functional medicine approach when you schedule an in-person or virtual visit.

Focus on Root Causes

By focusing on the root causes rather than just the symptoms, functional and integrative medicine aims to provide more effective and sustainable treatment options for EDS patients.

The Latest in EDS Research and Potential Future Advancements

Research into EDS is ongoing, and recent advancements hold promise for improving both diagnosis and treatment.

Genetic Research

Genetic research is uncovering new mutations associated with different types of EDS, leading to more accurate and faster diagnostic methods. Whole genome sequencing and other advanced genetic tests are becoming more accessible and affordable (8).

Biomarkers

Researchers are also exploring potential biomarkers that could make diagnosing EDS easier. Identifiable biomarkers could lead to the development of simple blood tests for early detection.

New Therapies

Advancements in gene therapy and regenerative medicine offer hope for future treatments that could correct some of the genetic abnormalities underlying EDS. Additionally, stem cell therapy and tissue engineering show potential for repairing damaged connective tissue in EDS patients (9).

Practical Advice for EDS Patients on Seeking a Diagnosis and Managing Symptoms

If you suspect you may have EDS, here are some practical steps to take:

Seek Specialist Care

Consult with specialists experienced in connective tissue disorders. Integrative or functional medicine practitioners often have a wider range of therapies that can help to successfully manage EDS symptoms.

Document Your Symptoms

Keep a detailed record of your symptoms, including their frequency, duration, and severity. Be specific. This information can be invaluable when seeking a diagnosis.

Advocate for Yourself

Be your own advocate. A holistic healthcare team can help. If a healthcare provider dismisses your concerns, don’t hesitate to seek a second opinion.

Lifestyle Modifications

Implement lifestyle modifications to manage symptoms. These can include low-impact exercises to strengthen muscles, dietary changes to support overall health, and stress management techniques.

Join Support Groups

Connect with others who have EDS through support groups and online communities. Sharing experiences and advice can be incredibly helpful, both for advocating for yourself, and connecting with those who can validate your experience.

What to Remember

Ehlers-Danlos Syndrome is a complex and often misunderstood condition, but awareness and understanding are gradually improving. Early diagnosis and a comprehensive, personalized approach to treatment can make a significant difference in the quality of life for EDS patients. By staying informed and advocating for yourself, you can navigate the challenges of EDS more effectively.

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About
the author

Leigh Applegate is a certified family nurse practitioner and registered nurse. Her passion for holistic care is rooted in her experiences while working with vulnerable and underserved patient populations in Georgia and Florida. As a practitioner, she strives to put as much effort into implementing primary preventative medicine as she does into treating patients with pre-existing issues. She believes health reaches far beyond the presence or absence of disease. It encompasses a balance in an individual’s physical, mental, spiritual and social well-being.

Blog Reviewed By:

Dr. Taz Bhatia, M.D.

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Hyperflexibility: Ehlers-Danlos Syndrome Affects Millions But Difficult to Diagnose