How Long Does It Take to Get Diagnosed with EDS?

Understanding the Diagnostic Journey of Ehlers-Danlos Syndrome (EDS)

Ehlers-Danlos Syndrome (EDS) presents a complex challenge for both patients and healthcare providers, characterized by a wide range of symptoms and a lack of awareness that often leads to significant delays in diagnosis and appropriate management. This article explores key questions surrounding the diagnosis of EDS, aiming to shed light on the intricacies of this multifaceted condition.

How Long Does It Take to Get Diagnosed with EDS?

The journey to an Ehlers-Danlos Syndrome (EDS) diagnosis can be long and fraught with challenges, with some cases stretching out over decades. On average, it takes patients more than 10 years and 15 doctor visits to get diagnosed with Ehlers-Danlos Syndrome. Patients are often given more than 10 different diagnoses before receiving the correct EDS diagnosis. This extended diagnostic delay underscores the urgent need for increased awareness and understanding of EDS among both the public and healthcare professionals.

How Do You Get Evaluated for Ehlers-Danlos?

Evaluation for EDS typically involves a comprehensive assessment that includes a detailed medical history, physical examination, and possibly genetic testing. The 2017 International Classification for the Ehlers-Danlos Syndromes outlines specific criteria for diagnosing various EDS types, focusing on features such as joint hypermobility and family history.

How Hard Is It to Get Diagnosed with EDS?

In theory, diagnosing Ehlers-Danlos Syndrome should be straightforward for any doctor; however, patients often struggle to find doctors experienced enough with Ehlers-Danlos Syndrome to provide an accurate diagnosis. The rarity and complexity of the syndrome, coupled with its wide spectrum of symptoms that can mimic other conditions, lead to frequent misdiagnoses. Patients commonly encounter healthcare providers who lack familiarity with EDS, resulting in ineffective treatment plans or, worse, unnecessary surgeries and interventions.

The systemic nature of EDS means that its manifestations can affect multiple body systems, making it challenging to connect disparate symptoms to a single underlying cause. This often leads to patients being dismissed or inaccurately informed that their symptoms are psychosomatic. Access to knowledgeable healthcare providers remains a significant barrier, with many individuals having to travel extensively, sometimes internationally, to find specialists who can competently manage their condition.

When Is Ehlers-Danlos Syndrome Usually Diagnosed?

EDS can be diagnosed at any age, but the timing largely depends on the visibility and impact of symptoms. Some individuals receive a diagnosis in childhood or adolescence, especially in cases with pronounced manifestations. However, others might not be diagnosed until adulthood as symptoms become more apparent or debilitating.

Celebrities with EDS are a good example of how this plays out. Jameela Jamil was diagnosed as a child, but Halsey, Sia, Billie Eilish, and Selma Blair were all diagnosed well into adulthood.

What Syndrome Is Similar to Ehlers-Danlos?

Connective Tissue Diseases such as Marfan Syndrome, Loeys-Dietz Syndrome, and Hypermobility Spectrum Disorders share similarities with EDS, including joint hypermobility and connective tissue involvement. These similarities necessitate careful evaluation to accurately distinguish between these conditions.

What Is EDS Often Misdiagnosed As?

Patients often receive numerous alternative diagnoses before reaching an accurate EDS diagnosis, including fibromyalgia, chronic fatigue syndrome, and various mental health disorders. While some diagnoses may be incorrect, many conditions can coexist alongside EDS, known as comorbidities. A 2023 survey indicated that common co-diagnoses include anxiety, depression, migraines, postural orthostatic tachycardia syndrome (POTS), and irritable bowel syndrome (IBS). Anxiety and depression, often misattributed as primary conditions, are true comorbidities resulting from the chronic stress and pain associated with hEDS.

Is It Worth Getting Diagnosed with EDS?

Despite diagnostic challenges, obtaining an official diagnosis of EDS is invaluable, validating the patient's experiences and providing a framework for understanding their symptoms. Most importantly, a diagnosis opens the door to better treatment options, helping avoid further injury and enabling access to appropriate interventions and support networks designed to manage the condition effectively.

How Fast Does Ehlers-Danlos Progress?

The progression of EDS varies significantly among individuals and is influenced by factors such as the type of EDS, lifestyle, and the effectiveness of the management plan. While some may experience a gradual increase in symptoms, others may maintain stability for extended periods. Early intervention and comprehensive management are key to managing symptoms and potentially slowing the progression of the syndrome.

Conclusion

The path to diagnosing EDS underscores the need for increased awareness and education among healthcare providers and the public. By improving understanding and recognition of EDS, patients can receive timely, accurate diagnoses, facilitating better management of their symptoms and improving their quality of life.

‍

Sources:

Halverson, Colin M. E., Cao, Sha, Perkins, Susan M., (2023). Comorbidity, misdiagnoses, and the diagnostic odyssey in patients with hypermobile Ehlers-Danlos syndrome. GIM Open, 1(1). https://www.gimopen.org/article/S2949-7744(23)00821-X/fulltext

Russek, Leslie, PT, DPT, PhD, OCS. (2023, May 10). First, do no harm. Why you should identify hypermobile patients. Journal of Orthopaedic & Sports Physical Therapy. https://doi.org/10.2519/jospt.blog.20230510

Kalisch, Larissa, Hamonet, Claude, Bourdon, Caroline, Montalescot, Lucile, de Cazotte, Cécile, & Baeza-Velasco, Carolina. (2019). Predictors of pain and mobility disability in the hypermobile Ehlers-Danlos syndrome. Disability and Rehabilitation, 41(22), 2632-2637. https://doi.org/10.1080/09638288.2019.1608595

Ehlers-Danlos Support U.K.. Diagnosis. Retrieved from https://www.ehlers-danlos.org/what-is-eds/information-on-eds/diagnosis/

‍