Why Is Ehlers-Danlos An Often Dismissed Diagnosis?

The human body has an entire network of connective tissues that either link together or separate the neighboring tissues (via Britannica). They form the musculoskeletal, circulatory, nervous, digestive, and many other integral systems. If the body is exposed to harsh chemicals, serious infections, or insufficient nutrients, there may be problems within the connective tissues. As a result, you might develop certain autoimmune diseases, such as lupus and rheumatoid arthritis, warns Cleveland Clinic.

Ehlers-Danlos syndrome (EDS) is a name given to these diseases affecting the foundation or function of connective tissues of your body, according to Mayo Clinic. People born with this condition usually have difficulty getting pregnant as the uterus fails to accommodate the fetus. Severe symptoms may also cause problems with blood circulation due to compression of blood vessels. These patients have fragile skin that's prone to easy bruising as well. Additionally, they may struggle with movement as they have a comparatively more flexible skeletal system.

EDS can be genetically passed on from parent to child. However, Mayo Clinic states that the most common type of Ehlers-Danlos syndrome is called hypermobile Ehlers-Danlos syndrome. Those potential parents that are diagnosed, only have about a 50% chance of passing it on to their children.

Can Ehlers-Danlos be misdiagnosed?

Most of those born with Ehlers-Danlos syndrome (EDS) begin showing strange signs early on in their childhood, but because the symptoms of the condition mimic many other diseases, there's a high risk of misdiagnosis. For example, the CEO of the Ehlers-Danlos Society, Lara Bloom, published an account of her diagnosis story in Mind Body Green. She explained that during her adolescent years, she spent most of the time in pain, dealing with sudden fractures. Before the diagnosis, her symptoms were dismissed as mere accidents or anxiety-related mishaps.

The Mighty published various stories from other people sharing their misdiagnosis of EDS. A contributor even reported being mistakenly diagnosed with anorexia because of terrible digestive issues. A second person was told for 19 years that she had endometriosis, thyroid disorder, colon disease, and vitamin deficiency, before finally receiving an Ehlers-Danlos diagnosis.

Now thanks to the increasing awareness about the disease, it has become comparatively easier to detect whether a person has Ehlers-Danlos or not. Experts usually inquire about movements and examine the skin thinness to determine the possibility of an EDS diagnosis (via Mayo Clinic).