Why Is Ehlers-Danlos Syndrome (EDS) Often Overlooked?

Ehlers-Danlos Syndrome (EDS) is a group of connective tissue disorders that can significantly affect an individual's quality of life. Despite its prevalence, Ehlers-Danlos Syndrome (EDS) is often an overlooked condition, a fact that is troubling considering the impact it can have on those affected. This article explores the various factors contributing to the misdiagnosis and delayed diagnosis of EDS, highlighting the importance of recognizing and addressing these obstacles.

Lack of Awareness in Healthcare

The primary reason for the Ehlers-Danlos Syndrome (EDS) being overlooked lies in the lack of awareness among healthcare providers. Many medical professionals may not be trained adequately in recognizing and diagnosing EDS, leading to misdiagnosis or delayed diagnosis. This lack of awareness is often due to the limited coverage of connective tissue disorders in medical education.

The Variability of Symptoms

Ehlers-Danlos Syndrome (EDS) is characterized by a wide range of symptoms that can vary significantly between individuals. This variability makes it challenging to diagnose, as symptoms may be attributed to other conditions. The range of symptoms can include joint hypermobility, skin elasticity, chronic pain, and vascular issues, among others. As a result, many healthcare providers may not consider EDS as a potential diagnosis, even when symptoms are present.

Overlap with Other Conditions

Ehlers-Danlos Syndrome (EDS) shares symptoms with other disorders such as chronic pain syndromes, hypermobility disorders, and autoimmune diseases. This overlap can lead to confusion and misdiagnosis. For example, patients with hypermobile EDS may initially be diagnosed with a condition like fibromyalgia or generalized anxiety disorder, especially if the primary care physician is unfamiliar with EDS.

Underreporting and Stigma

Despite being a not so rare condition, EDS may be underreported in clinical settings. Many patients may not seek medical attention for their symptoms or their symptoms may not be recognized as being related to EDS. Moreover, patients may face skepticism about their symptoms, particularly if there are no visible signs. Stigmatization can discourage individuals from seeking help or sharing their experiences, further contributing to the underreporting of EDS.

Research Funding and Public Attention

Compared to more widely known conditions, EDS may receive less research funding and public attention. This lack of focus can hinder advancements in understanding and treatment. The National Institute of Neurological Disorders and Stroke notes that lack of research funding can also result in a lack of clinical trials and breakthroughs in treatment.

Misdiagnosis and the "Orphan Condition" Factor

Ehlers-Danlos Syndrome (EDS) is an "orphan condition," meaning there is no clear specialist who specializes in all aspects of the syndrome. Connective tissue can be implicated in problems that occur throughout the body in many different organs and systems, making it a complex diagnosis. Additionally, our medical system often sends patients to relevant specialists rather than taking a holistic approach. This can make it difficult to connect all the symptoms and identify EDS. An orthopedist, a gastroenterologist, a psychiatrist, a cardiologist, and a neurologist - each may see symptoms in one area that on their own wouldn't suggest EDS necessarily but together can form a red flag.

Furthermore, only some of the varieties of EDS can be diagnosed via genetic testing, while for others, including the hypermobile type, which is the most common, there is no clear single genetic diagnostic. No clear way to diagnose adds to the complexity, and many symptomatic similarities to other problems can make it not a clear preferred course of action for most physicians. The Rare Diseases Clinical Research Network highlights that the lack of a clear diagnostic approach and the complexity of the syndrome contribute to the inaccurate statistics on rarity and misdiagnoses.

Conclusion

Increasing awareness and education about EDS among healthcare providers, as well as advocacy for affected individuals, is essential for improving diagnosis and management of the syndrome. It is crucial to address the systemic issues contributing to the misdiagnosis and delayed diagnosis of EDS. By doing so, we can ensure that individuals with EDS receive the appropriate care and treatment they need.