Rita Fae Aulbach-Emira, AS, COC, CPC, CDEO, CPB, CPMA, CRC, CEMC, CPCD, CRHC, CMSP, CCA, CMCS, CBCS, CEPFG, Certified Melanoma Educator
Ehlers Danlos Syndrome:
The Need for More Education Among the Medical Community
Ehlers Danlos Syndrome (EDS) is a connective tissue disorder which can be devastating for patients and families largely due to lack of education across the medical community. Ehlers Danlos Syndrome is genetic and there are several subtypes with a wide array of symptoms. Unfortunately, the condition can be missed by medical professionals leaving patients without a diagnosis. Even worse and more worrisome, Ehlers Danlos Syndrome can cause sudden, life-threatening complications, sometimes even with patients dying from the condition without ever being diagnosed. Because Ehlers Danlos Syndrome is caused by hereditary gene mutations, is misdiagnosed due to vague and confusing symptoms which sometimes overlap with other conditions, and can be life-threatening, more education about EDS is needed in the medical provider 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 14th 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.
To add to the already debilitating, confusing, and life-altering symptoms and the equally troubling conditions associated with the Ehlers Danlos syndromes, life-threatening events can and do happen in every type of EDS, especially fatal cardiovascular and pregnancy complications. For instance, one in three individuals with Ehlers Danlos syndrome experience an aortic dissection, or a tear in the aorta which can cause a fatal internal bleed. Because all types of the Ehlers Danlos syndromes are due to defective collagen and the tissues throughout the body become fragile, complications like organ perforations, arterial aneurysms, or tissue ruptures are common, especially at abnormally younger ages than in the rest of the population, and pregnancy can be extremely dangerous for those with Ehlers Danlos syndrome. This means that pregnant women with Ehlers Danlos syndrome are at high risk for miscarriage, uterine rupture, and catastrophic bleeding events. Along with the numerous natural complications which are possible with EDS, complications from surgical procedures are also a common cause of death in Ehlers Danlos syndrome patients. Another type of EDS, vascular Ehlers Danlos syndrome, or vEDS, for example, is thought to be the most dangerous kind of EDS, having a high risk of death for individuals before the age of 40 secondary to cardiovascular and bleeding events (Zhang et al., 2019; Malfait, 2020). Special care for EDS patients, especially for those with vascular EDS and for pregnant women, should be taken during surgical procedures and pregnancy care. Therefore, the medical staff involved in patient care, such as nurses, obstetricians, surgeons, or anesthesiologists, should be well educated about Ehlers Danlos syndrome and the possible complications, risks, and precautions to take for individuals with EDS. Patient outcomes can be improved, and patient deaths associated with Ehlers Danlos complications may be prevented if the medical community is more knowledgeable about Ehlers Danlos syndrome and the complications which may arise.
Convincingly, due to the hereditary gene mutations which can be passed on for many generations, odd symptoms resulting in misdiagnosis, and the obvious threat to life, more education about the Ehlers Danlos Syndromes is needed in the medical provider community. Ehlers Danlos syndrome having several subtypes and the numerous symptoms is a genetic condition which can be passed on to a patient’s children. Not without consequence, this condition can be missed by medical professionals leaving patients without a diagnosis due to the ambiguous symptoms. More critically, Ehlers Danlos Syndrome can cause sudden, life-threatening complications even before a diagnosis is made, regardless of the subtype of EDS devasting patients and families alike. While the current education in the medical community is lacking regarding Ehlers Danlos Syndrome, it is clear that more education is needed.
Brady, A. F., Demirdas, S., Fournel‐Gigleux, S., Ghali, N., Giunta, C., Kapferer‐Seebacher, I., Kosho, T., Mendoza‐Londono, R., Pope, M. F., Rohrbach, M., Van Damme, T., Vandersteen, A., van Mourik, C., Voermans, N., Zschocke, J., & Malfait, F. (2017 March 17). The Ehlers–Danlos syndromes, rare types. American Journal of Medical Genetics Part C Seminars in Medical Genetics, 175, 70– 115. doi:https://doi.org/10.1002/ajmg.c.31550
Forghani, I. (2019). Updates in clinical and genetics aspects of hypermobile Ehlers Danlos syndrome. Balkan Medical Journal, 36(1), 12-16. doi:http://dx.doi.org/10.4274/balkanmedj.2018.1113
Ghali, N., Sobey, G., & Burrows, N. (2019). Ehlers-Danlos syndromes. BMJ (Clinical research ed.), 366, l4966. https://doi.org/10.1136/bmj.l4966
Hakim, A., O’Callaghan, C., De Wandele, I., Stiles, L., Pocinki, A., & Rowe, P. (2017 February 4). Cardiovascular autonomic dysfunction in Ehlers–Danlos syndrome—Hypermobile type. American Journal of Medical Genetics Part C Seminars in Medical Genetics 175C, 168– 174. Doi:https://doi.org/10.1002/ajmg.c.31543
Hein, L. C., DeGregory, C. B., & Umari, F. (2019), Ehlers-Danlos syndrome: It’s not your normal hoofbeats. (2019). The Journal for Nurse Practitioners, 15(4), 277-281. doi:http://dx.doi.org/10.1016/j.nurpra.2019.01.006
Levy, H. P. (2018). Hypermobile Ehlers-Danlos Syndrome. In M. P. Adam (Eds.) et. al., GeneReviews®. University of Washington, Seattle. Retrieved from PubMed: https://pubmed.ncbi.nlm.nih.gov/20301456/
Malfait, F., Marco, C., Francomano, C. A., Giunta, C., Tomoki, K., & Byers, P. H. (2020). The Ehlers–Danlos syndromes (primer). Nature Reviews: Disease Primers, 6(1) doi:http://dx.doi.org/10.1038/s41572-020-0194-9
Malfait, F., Francomano, C., Byers, P., Belmont, J., Berglund, B., Black, J., Bloom, L., Bowen, J. M., Brady, A. F., Burrows, N. P., Castori, M., Cohen, H., Colombi, M., Demirdas, S., De Backer, J., De Paepe, A., Fournel‐Gigleux, S., Frank, M., Ghali, N., Giunta, C., Grahame, R., Hakim, A., Jeunemaitre, X., Johnson, D., Juul‐Kristensen, B., Kapferer‐Seebacher, I., Kazkaz, H., Kosho, T., Lavallee, M. E., Levy, H., Mendoza‐Londono, R., Pepin, M., Pope, F. M., Reinstein, E., Robert, L., Rohrbach, M., Sanders, L., Sobey, G. J., Van Damme, T., Vandersteen, A., van Mourik, C., Voermans, N., Wheeldon, N., Zschocke, J., Tinkle, B. (2017 March). The 2017 international classification of the Ehlers–Danlos syndromes. American Journal of Medical Genetics Part C Seminars in Medical Genetics, 175C, 8– 26. doi:https://doi.org/10.1002/ajmg.c.31552
Riley, B. (2020). The many facets of hypermobile Ehlers-Danlos syndrome. The Journal of the American Osteopathic Association, January 2020, Vol. 120, 30-32. doi: https://doi.org/10.7556/jaoa.2020.012
Zhang, X., Si, N., Li, Y., Liang, M., & Zheng, Y. (2019). A four-generation pedigree of vascular-type Ehlers-Danlos syndrome with spontaneous aortic dissections and multiple aneurysms: A case report and literature review. Translational Surgery, 4(2), 27. Retrieved from GALE: https://link.gale.com/apps/doc/A607010411/GPS?u=lirn99776&sid=GPS&xid=a920046b
Tag:aEDS, anchor, anchor.fm, awareness, BCS, cEDS, clEDS, cpc, cvEDS, dEDS, EDS, edsawareness, Ehlers Danlos Syndrome, facebook, follow, healthcare, hEDS, hsd, hypermobility, kEDS, leadership, like, mcEDS, medical billing, medical coder, medical scribe, medical terminology, mEDS, myedschallenge, myhsdchallenge, pEDS, podcast, professionalism, rare diseases, risk adjustment, share, simply certified, spEDS, spotify, subscribe, Support, vEDS