Ehlers Danlos Syndrome: The Need for More Education Among the Medical Community

The Ehlers Danlos syndromes are hereditary, meaning that the syndrome is passed down through families for generations and caused by gene mutations, so it is important for the medical community to understand which genes are responsible, the roles the genes play in the disease process, and the hereditary nature of the condition including any possible family history of the syndrome. The Ehlers Danlos syndromes are considered to be on a spectrum of rare genetic hereditable connective tissue disorders caused by defective collagen in tissues throughout the entire body which include Marfan’s syndrome and Hypermobility Spectrum Disorder. Although Ehlers Danlos syndrome is genetic and ultimately, hereditary, the mutations can and do occur spontaneously. Often, leaving no prior family history to use as clues to warrant further investigation into a diagnosis of EDS. This means a person could be the first individual in a family to have the gene mutations, but still pass them onto many future generations. Since Ehlers Danlos syndrome can be passed down through families, genetic testing and counseling could beneficial because a diagnosis of EDS can greatly change a person or entire family’s quality of life; however, genetic counseling is usually only offered after genetic testing. Genetic testing is beneficial to determine the subtype of Ehlers Danlos syndrome since there are several subclassifications of the syndrome.

There are 14 subclassifications of the Ehlers Danlos syndromes. Six of these subtypes being more common, and each subtype having a specific diagnostic criterion including the signs, symptoms, and specific genetic testing for certain known genetic variations. For example, the 14^th type of Ehlers Danlos syndrome has recently been discovered in 2018 largely due to genetic testing and research among the previously 13 known types (Riley, 2018). Still, everything is not yet known about the 13 subtypes of Ehlers Danlos syndromes which do have known genetic markers and there may be other undiscovered genetic mutations which require continuous research and education within the medical community to uncover. Despite already having information about known genetic causes of EDS, the discovery of a new, 14th subtype proves the need to know more about the Ehlers Danlos syndromes among the medical community.

It is well-known that Ehlers Danlos syndrome is caused by genetic mutations, or in many cases a combination of several mutations, however; unlike the other 13 subtypes, one subtype of Ehlers Danlos syndrome does not have a known genetic variant or cause and more research is needed to find one. Hypermobile Ehlers Danlos syndrome, or hEDS, is one of the most common types of the Ehlers Danlos syndromes and shares many common signs, symptoms, and overlapping conditions with other types of EDS. More specifically, and more commonly with, classic Ehlers Danlos Syndrome, or cEDS, with the hypermobile and classic Ehlers Danlos syndrome making up more than 90% of diagnosed EDS cases (Zhang et al., 2019). However, in contrast with classic Ehlers Danlos syndrome which has known gene mutations, hypermobile EDS requires a physician with sufficient knowledge of Ehlers Danlos syndrome to conclude a clinical diagnosis based on personal and family history combined with reported symptoms and a thorough examination because a specific genetic cause has not been identified (Levy, 2018). Consequently, there is no genetic test available for hypermobile Ehlers Danlos syndrome, except to rule out other EDS subtypes, even though hEDS has been proven to run in family lines (Hein et al., 2019). Likewise, other subtypes of Ehlers Danlos syndrome typically require a clinical diagnosis based on symptoms before genetic testing can be performed. More research is needed to isolate a genetic link for hypermobile Ehlers Danlos syndrome, to uncover the remaining unknown links in other subtypes, and even to allow for the discovery of new subtypes of EDS (Forghani, 2018). Furthermore, for more research to take place, medical providers must be educated on Ehlers Danlos syndrome adequately enough to make a proper diagnosis. Especially since hypermobile Ehlers Danlos syndrome is one of the most common types of EDS yet, it is also the most misdiagnosed.

Ehlers Danlos syndrome is often brushed-off or unrecognized by the medical provider community and as a result, can go undiagnosed or misdiagnosed for years or even decades because patients present with vague and sometimes extremely confusing symptoms. For instance, most sub-types of Ehlers Danlos syndrome, including hypermobile EDS, classic EDS, and vascular EDS, feature joint hypermobility, yet joint hypermobility to some extent occurs in 10-30% of the regular, global adult population making this specific symptom common (Hakim et al., 2017). However, most individuals with Ehlers Danlos syndrome experience “common” symptoms. Symptoms like multiple joint dislocations due to hypermobility or easy bruising and multiple injuries before the age of 40 are tell-tale signs of EDS and most of the time symptoms present in or before adulthood, but the symptoms can present at any age including infancy, be debilitating and unexplainable, or mimic other disease processes hindering diagnosis and treatment. According to Hein et al. (2019), “Patients and providers may both become frustrated, and the patient continues to suffer from incorrect or lack of treatment” (para. 4). This is because the signs and symptoms of Ehlers Danlos syndrome can seem strange, numerous, and affect multiple body systems simultaneously, not making any sense to patients and providers alike. Specifically, all subtypes of Ehlers Danlos syndrome may imitate other conditions or has superimposed symptoms of chronic pain, chronic fatigue, and emotional or mental health symptoms which are often misleading to medical providers.

Oftentimes, patients are not only misdiagnosed, patients are wrongly accused of malingering, drug seeking, or are incorrectly diagnosed as a psychiatric case. As a result, patients may go from provider to provider seeking answers and relief to their symptoms without getting the care that is needed or any kind of diagnosis being made. However, while Ehlers Danlos syndrome is labeled a rare disease, it is more common than it seems. Ehlers Danlos syndrome occurs in one in every 5,000 births and Zhang et al. (2019) states, “Although EDS is rarely seen, it is necessary to be aware of the disease to make the right diagnosis and choose the appropriate treatment strategy” (para. 1). On the other hand, physicians are taught Sutton’s Law, meaning providers are trained in medical school to look for the most obvious signs and symptoms to match with common diseases processes, or “when you hear hoofbeats, look for horses, not zebras” when diagnosing patients (Hein et al., 2019, para. 1). Ehlers Danlos syndrome goes against the concept of Sutton’s Law and as a result, against the education currently provided to the medical community and individuals with Ehlers Danlos Syndrome, like other rare disease patients, being zebras making hoofbeats loudly.

It is crucial that medical providers are able to recognize a “zebra” and the possible other conditions a person with Ehlers Danlos syndrome may be experiencing or present with. In addition to affecting the skin, joints, and several other organ systems, Ehlers Danlos syndrome has many other conditions with known associations and can overlap making it harder to recognize. Patients are often diagnosed with numerous other conditions for example, fibromyalgia, rheumatoid arthritis, Marfan syndrome, Sjogren’s disease, dysautonomia, or even Autism Spectrum disorders in addition to or even instead of Ehlers Danlos syndrome. The possible alternative diagnoses or coexisting and associated conditions need to be treated or considered when diagnosing or treating Ehlers Danlos syndrome. Clearly, knowledge about Ehlers Danlos syndrome when treating the symptoms of EDS, diagnosing, or ruling out other conditions is needed to do so accurately. Ehlers Danlos syndrome’s symptoms and the many conditions it can mimic and overlap with can be confusing and frustrating, making it critical for healthcare providers to have up-to-date education on Ehlers Danlos Syndrome to avoid unnecessary confusion and inadvertently misdiagnosing a patient.