The Diagnostic Challenges of Ehlers-Danlos Syndrome

Why is It So Hard to Get a Proper Diagnosis?
Ehlers-Danlos Syndrome (EDS) is a complex group of connective tissue disorders that presents unique challenges in diagnosis. For many patients, the journey to a diagnosis is long, frustrating, and filled with obstacles. This delay in diagnosis can be attributed to several factors, each compounding the difficulty of identifying and managing this condition.

• Lack of Awareness: One of the primary challenges is the lack of awareness among healthcare providers. EDS is often considered rare, and many doctors receive little to no training on connective tissue disorders during their medical education. This lack of exposure means that the subtle and varied symptoms of EDS can be easily overlooked or misdiagnosed as more common conditions. Patients often find themselves consulting multiple specialists, each focusing on their specific symptoms without considering the broader context of a connective tissue disorder.
• Lack of Providers and Experts: Moreover, there are few clinics with expertise in EDS. Even when a doctor suspects EDS, finding a specialist knowledgeable enough to confirm the diagnosis and provide comprehensive care can be difficult. The limited number of specialized clinics and the high demand for their services often result in long wait times, further delaying the diagnostic process.
• Variability of Symptoms: Another significant hurdle is the variability in symptoms and presentation among EDS patients. EDS can manifest in myriad ways, with each individual experiencing a unique combination of symptoms. This variability makes it challenging to apply a one-size-fits-all diagnostic approach. Some patients may present with classic symptoms like joint hypermobility in their spine, while others might have more subtle signs impacting their cardiovascular system, leading to missed or incorrect diagnoses.
• Poor Diagnostics: The diagnostic criteria themselves are also a source of controversy. For hypermobile EDS (hEDS), in particular, the criteria are subjective and can be difficult to apply consistently. Some experts argue that the current criteria are too restrictive, excluding many who may indeed have hEDS but do not meet every point on the checklist. Others believe the criteria need further refinement to ensure accurate diagnosis without over-diagnosing individuals who do not have the condition.
• Lack of Validated Genetic Research: Compounding these issues is the lack of a definitive genetic marker for hEDS, unlike other forms of EDS that can be confirmed through genetic testing. This absence of a clear diagnostic tool makes hEDS particularly challenging to diagnose and contributes to the ongoing debate within the medical community.
• Changes Needed: Addressing these challenges requires increased education for healthcare providers, more research into the genetic and clinical aspects of EDS, changes in medical school circula, and most-critically, a patient-centered approach that recognizes the unique experiences of those living with this complex condition. Until then, many patients will continue to navigate the difficult and often frustrating path to an EDS diagnosis.

Why Does it Take So Long to Get a Diagnosis?

The diagnostic odyssey (as it is often termed) for EDS can be quite prolonged, with studies and reports indicating that it often takes several years or even decades before patients receive a correct diagnosis.

1. A 2017 study published in the American Journal of Medical Genetics found that the average time to diagnosis for EDS patients was around 10 to 14 years. This long duration highlights the significant challenges patients face in getting a proper diagnosis .
2. A 2021 survey conducted by The Ehlers-Danlos Society reported that nearly 90% of respondents experienced a diagnostic delay, with 56% stating that it took more than 10 years to receive an accurate diagnosis. This survey underscores the widespread issue of delayed recognition of the disorder within the medical community. According to the Ehlers-Danlos Society, the average time to diagnosis for Ehlers-Danlos syndrome (EDS) or hypermobility spectrum disorder (HSD) is 10-12 years, but it can take decades for some people.
3. Other patient support organizations track participant polls that tally the figure to be nearly 20 years, including one from EDS Awareness with 55% reporting 20+ years to diagnosis.
4. In 2022, CNN featured an expose article on EDS affecting millions, asking why the medical system is not paying attention. Other recent media has yet to bring EDS into mainstream attention, so advocates have a lot of work yet to do.