Ehlers-Danlos Syndrome: “The Most Neglected Disorder in Modern Medicine”
An invisible illness affecting 255 million people worldwide, Ehlers-Danlos Syndrome is a debilitating disease without a cure. Here’s what you need to know about this challenging condition.
One warm day last fall, my son begged me to play soccer with him in the backyard. More often than not, I have to say “no” to these daily requests because my body won’t let me join in the fun. That day, though, I was feeling pretty good. The daily pain I experience from my Ehlers-Danlos Syndrome (EDS) usually tips the scales between a 7 and 10, but it was down to a 3. So my son and I ran around the yard for 30 minutes, a huge smile beaming on his face. When it was time for dinner, he sprinted into the house while I limped slowly behind. I’d been crutches-free for almost four months before this game (a small victory for me), but this little match put them back in my hands for another two weeks.
A DIFFICULT DIAGNOSIS
According to the Ehlers-Danlos Society, EDS is “the most neglected disorder in modern medicine.” Those with EDS often suffer for years—feeling unsupported, disbelieved and alone before finally finding help.
I have hypermobile Ehlers-Danlos Syndrome, one of 13 types of this condition that affects connective tissues. It leaves me in chronic pain with hypermobile joints that are prone to dislocations. To help me stay stable, I often use a variety of aids—from wrist, elbow, knee, and ankle braces to a sling, crutches, or a cane. In the past six years, I’ve undergone five surgeries to help tighten ligaments and repair tears.
Ehlers-Danlos Syndrome is an invisible disease, which means those who suffer from it look “fine” on the outside. Behind the chronic pain and dislocations, many feel this is the toughest part about living with EDS. Because we look healthy, our symptoms are often disregarded or shrugged off as inconsequential. The result: It can take years (26 for me, up to 60 for others) to procure a diagnosis.
What exactly is Ehlers-Danlos Syndrome, and is it curable? Read on to learn more.
What Is Ehlers-Danlos Syndrome?
Ehlers-Danlos syndromes are a group of 13 inherited disorders that affect connective tissues (collagen, in particular). Think of these tissues as a form of glue. They provide strength and support to our skin, bones, digestive system, blood vessels, and other organs. They also support the tissues (i.e., ligaments, cartilage, and tendons) in and around our joints.
In a person with EDS, the connective tissues are extremely loose, meaning they don’t hold things as stable as they should, leaving them able to stretch far beyond the normal range. The result: frequent dislocations, subluxations (partial dislocations), torn ligaments and tendons, chronic pain, fatigue, instability and, sometimes, life-threatening complications such as the rupture of large arteries.
Those suffering from EDS most often present with soft, stretchy, easily-bruised skin, hypermobile joints, and poor wound-healing. While symptoms overlap for the various types, it would be extremely rare for a person to suffer from more than one form of the condition.
Ehlers-Danlos Syndrome Affects Multiple Parts of the Body
The effects of Ehlers-Danlos Syndrome can be multi-systemic, which means shoddy connective tissues can cause problems in various parts of the body. Everything including the eyes, jaw, heart, gut, mouth, joints, spine, and skin can be affected. Other complaints include (but are not limited to) sleep problems, chronic pain, neurological issues, and chronic fatigue.
Ehlers-Danlos Syndrome Is Linked to Other Conditions
Since connective tissues exist in our skin and internal organs, some people with EDS suffer problems in their gastrointestinal systems, bladder, and autonomic nervous system (the control system that monitors such functions as our heart rate, digestion, and respiratory rate).
Many of those with EDS also suffer from comorbidities (the presence of two or more chronic diseases at a time) such as postural orthostatic tachycardia syndrome (POTS), psoriasis, chronic migraines, rheumatoid arthritis, Reynaud’s disease, chronic fatigue syndrome, and fibromyalgia, although more research is needed to prove the connection between these conditions and EDS.
Ehlers-Danlos Syndrome Is Genetic
EDS is highly heritable, which means it’s passed down through families. Those with the condition have a 50 percent chance of gifting it to their kids. Each affected relative experiences his or her own unique symptoms, which can vary from mild to severe.
It’s extremely unlikely to pass a different type of the disease down the line. For instance, people with hypermobile EDS will not pass vascular EDS to their children.
Who Has Ehlers-Danlos Syndrome?
According to the Genetics Home Reference, Ehlers-Danlos Syndromes affect 1 in 5,000 people worldwide. Hypermobile EDS (referred to as hEDS) is the most common form, affecting between 1 in 5,000 to 20,000 people. The classical type of EDS targets 1 in 20,000 to 40,000 people. That said, EDS is gravely underdiagnosed, likely due to a lack of knowledge and understanding about this condition in the medical profession, so actual numbers may be much higher.
In a recent paper published in the American Journal of Medical Genetics, researchers stated, “The hypermobile type of Ehlers-Danlos syndrome (hEDS) is likely the most common systemic inherited connective tissue disorder in humans.” They also claimed that hEDS affects 255 million people worldwide, 10 million of whom live in the US.
How is Ehlers-Danlos Syndrome Treated?
“Ehlers-Danlos Syndrome is managed by treating the individual symptoms, such as pain. Patients often need to see a variety of doctors including an orthopedic surgeon, rheumatologist and dermatologist,” explains Dr. Leonaura Rhodes, a Connecticut-based physician, contributor to University Health News and fellow EDS sufferer.
Since EDS affects so many parts of the body, each symptom must be treated separately. Physiotherapy is important to strengthen muscles around the joints to reduce the risk of dislocations. In some cases, surgery is also advisable to repair and possibly tighten damaged joints. Surgery can be risky for those with EDS due to poor wound-healing, excessive scarring, and the high risk of arterial rupture, so it should be considered carefully with the help of a medical practitioner who is well-versed in the condition.
Altering a person’s nutrition regimen can be beneficial for those suffering from gastrointestinal complaints and can help reduce joint pain and inflammation. Pain medications can also be useful, but it’s important to see a medical professional to find out which meds work best. It may be essential to avoid contact sports such as rugby, hockey, and football.
Is There a Cure for Ehlers-Danlos Syndrome?
There is currently no cure for EDS. Treatments such as physical therapy, targeted exercises, and pain relief medication can help manage symptoms.
How Is Ehlers-Danlos Syndrome Diagnosed?
Diagnosing EDS is no breeze. “Although there is a wealth of information easily accessible, it can still take a very long time [often more than 20 years] before the penny drops and someone recognizes the diagnosis and points the individual in the right directions for help,” says Dr. Alan J. Hakim, a London-based rheumatologist and acute physician as well as guru in the EDS field. “Even then, there can be reluctance among some—family members and medical personnel alike—to acknowledge the syndrome, the depth and breadth of its insult, and the psychosocial impact on an individual’s well-being.”
In March 2017, an international consortium of more than 90 EDS experts published new diagnostic criteria along with management and care guidelines in the American Journal of Medical Genetics. Diagnosis now includes measuring the hypermobility of multiple joints based on the Beighton Score (a 9-point system that measures joint laxity and hypermobility), discovering an immediate family history of the disorder, and finding widespread symptoms throughout the body, among other qualifications.
SOURCES & RESOURCES
For related information, please visit these posts:
- The 13 Ehlers-Danlos Syndrome Types: EDS’s Many Forms
- Sciatic Nerve Pain: How to Deal with the Effects of Sciatica in Your Back, Legs, and Feet
- Supplements for Inflammation: Guide for Natural Pain Management
- Pain Management: What to Do When Pain Just Won’t Go Away
- Scar Treatment That Works: 17 Ways to Reduce (and Prevent) Unsightly Scars
This article was originally published in 2018. It is regularly updated.
Fatigue is one of many symptoms of Ehlers-Danlos syndrome.
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