Ehlers-Danlos Syndrome (EDS)

Why Ehlers-Danlos Syndrome Is So Difficult to Diagnose

Ehlers-Danlos Syndrome (EDS) is a group of inherited connective tissue disorders that affect collagen, the protein responsible for providing structure and strength to skin, joints, and blood vessels. While EDS can be painful and disabling, it often goes undiagnosed or misdiagnosed for years—especially in its most common form, hypermobile Ehlers-Danlos Syndrome (hEDS).

1. Wide Range of Symptoms

EDS affects multiple systems in the body and presents with a broad spectrum of symptoms, including:

• Chronic joint pain and instability

• Frequent dislocations and sprains

• Digestive issues (Gastroparesis and MCAS)

• Chronic fatigue (CFS

• Autonomic dysfunction (e.g. POTS)

• Fragile skin or bruising

These symptoms can overlap with other conditions like fibromyalgia, chronic fatigue syndrome, or autoimmune disorders—leading to frequent misdiagnosis.

2. No Genetic Test for hEDS

Unlike some subtypes (like vascular EDS or classical EDS), hypermobile EDS has no definitive genetic marker. Diagnosis is based entirely on clinical criteria, which can vary from provider to provider and is often missed by those unfamiliar with connective tissue disorders. Hypermobile EDS accounts for an estimated 90% of Ehlers-Danlos Syndrome cases. The US FDA is currently reviewing approval of the genetic marker for hEDS, which we promptly integrate into our diagnosis and care. 

3. Invisible Symptoms

Many individuals with EDS appear outwardly healthy. Since symptoms like joint pain, fatigue, and dizziness are often “invisible,” they are frequently dismissed by healthcare providers, further delaying accurate diagnosis.

4. Lack of Awareness Among Providers

EDS is still considered a rare condition by the International Classification Of Diseases. Therefore, many general practitioners and specialists are not trained to recognize its signs, especially when symptoms involve multiple systems. As a result, patients often see multiple doctors, sometimes dozens, over several years before receiving an accurate diagnosis. Besides the frustration of finding a proper diagnosis and effective treatment, people are often told that their symptoms are psychosomatic, that they are really okay because all of the labs, tests, and imaging didn’t find anything. This process often causes mental illness or worsens underlying anxiety or PTSD.  

5. Highly Variable Presentation

Two patients with EDS may have entirely different symptom profiles. One may struggle with daily dislocations, while another primarily suffers from gastrointestinal or cardiovascular issues. This variability makes standardized diagnosis more difficult, even among specialists.