Ehlers-Danlos syndrome: Diagnosing and treating an ‘invisible’ disease
January 6, 2022
By the time we see most of our patients with Ehlers-Danlos syndrome (EDS) – a rare genetic disorder that causes chronic pain, discomfort, and fatigue – they are on the brink of losing hope.
Many have seen 10 or more doctors and some of those suggested their symptoms were psychosomatic. EDS is considered an “invisible” illness: patients look healthy but struggle with pain and fatigue that can make simple tasks like cooking or getting dressed feel unmanageable.
One of our patients, Kimberly Bertrand, a 46-year-old optometrist, lived with symptoms of undiagnosed EDS for decades until an acquaintance suggested she visit UT Southwestern. When we diagnosed Kimberly with EDS in May 2021, she finally got an answer for her seemingly disconnected health challenges.
Patients with EDS have inherited flaws in the structure, strength, and function of their collagen – a vital protein within our connective tissue that helps strengthen and support the blood vessels, bones, cartilage, ligaments, organs, skin, and tendons. EDS causes a range of symptoms:
- Headaches
- Hypermobility (loose, flexible joints)
- Mast cell activation (an allergic-type reaction to certain triggers, such as sunlight or stress)
- Poor circulation
- Skin that stretches, tears, and bruises easily
- Digestive complications
- Lack of bladder control
- Dizziness
- Extreme fatigue
There are 13 types of EDS, categorized by which areas of the body the disease affects. People of all ages, genders, and ethnicities can inherit EDS. Actresses Lena Dunham and Jameela Jamil have been open about living with the disease.
In October 2021, entrepreneur and former “Millionaire Matchmaker” contestant Trevor Jones died from vascular EDS, the most serious type, which can cause ruptures of an organ or blood vessels.
Because EDS can affect the entire body and its symptoms mimic other conditions, it can be very difficult to diagnose. UT Southwestern’s Physical Medicine and Rehabilitation specialist team diagnoses and treat new cases of EDS every week – even though it is a rare condition, affecting approximately 1 in 5,000 people worldwide.
The relief patients feel after getting a medical explanation for their symptoms can be life-changing. While there is not yet a cure for EDS, we can personalize treatments to address each individual’s symptoms. Empowering patients with knowledge and tools to improve their health instills a level of energy many of them haven’t felt for years.
Kimberly’s story: ‘I feel younger than ever’
In early 2021, I was talking with an acquaintance when the subject of their child’s recent EDS diagnosis came up. As they described the symptoms, a lightbulb went off in my head.
I had experienced many of the same issues for years:
- Constant fatigue
- Digestive problems
- Easily injured joints
- Excessive flexibility
- Ongoing plantar fasciitis
- Overall pain that would come and go
- Spinal stenosis, which caused recurring neck and back pain
I made an appointment with Dr. Isabel Huang the next day. When I saw her in May 2021, we discussed my medical history in detail – every symptom, illness, and injury. She put my concerns together like a puzzle and verified that I did, indeed, have EDS.
The diagnosis was life-changing. I finally had one name for my many health challenges and a treatment plan that would help me finally feel better – without a lot of medications.
Getting stronger
EDS causes weakness throughout the body, so Dr. Huang created a plan to help me get stronger. We started with my diet. She recommended I eat more protein and electrolytes.
I started eating more lean meat – I’m up to 50 grams of protein a day and working toward 70-80 grams. I also regularly incorporate powdered greens into my diet; they support muscle contraction and boost my vitamin and mineral intake.
Dr. Huang recommended starting a physical therapy program to build muscle strength as well. I had tried physical therapy in the past without much success, but working with Michelle Munster, Sc.D., an expert in working with EDS patients, has made a world of difference in my health.
For the first six months, I attended in-person physical therapy sessions almost weekly. Now I have a routine set of exercises I do every day at home, such as hamstring strengthening, toe stretches, and resting my tongue on the roof of my mouth to ease jaw and neck pain.
My energy levels increased after the first couple months. Now I can do things I never thought possible, such as:
- Standing and bending with less pain at work. As an optometrist, I have to get in some strange positions to care for my patients. Getting stronger has helped ease the strain.
- Carrying a shopping basket around the grocery store. The weight used to be too much for my hands to handle.
- Sitting up straight. It sounds simple, but I never had the muscle strength to do it before.
- Running three miles at a time. Before, I couldn’t even walk one mile without pain.
- Driving eight hours round trip from Southlake to Houston and back without taking rest days. Driving two hours used to be exhausting.
I feel younger than ever! My treatment plan and general awareness of EDS have improved my mental health as well, so I can devote more energy to my physical well-being.
Maintaining balance
As I continue to build strength, consistency and moderation are key. I recently started playing tennis after a 10-year break, and Dr. Huang has encouraged me to take Pilates and barre classes. While increased activity has contributed to my progress, overdoing it could make symptoms flare up again. Just like life, it’s all about finding the right balance.
Before coming to UT Southwestern, I saw several doctors for different symptoms – a podiatrist for my plantar fasciitis, an orthopedic specialist for shoulder pain. I never thought my symptoms were connected, and I’m grateful Dr. Huang could piece together the clues.
I encourage others experiencing EDS symptoms to be their own advocate when meeting with their providers. Talk about all your symptoms, not just one at a time. Getting a diagnosis that helps you feel seen and heard is invaluable.
Diagnosing Ehlers-Danlos syndrome: What to expect
Our first step when screening new patients for EDS is to start with the joints – a classic EDS concern. We discuss which joints are loose and any other joint-related symptoms they’re experiencing. Then we discuss energy levels, chronic pain, and the cardiovascular, gastrointestinal, and muscle systems to consider all areas of the body.
About half of our patients have been misdiagnosed with fibromyalgia – chronic pain without a known cause. Or their previous providers focused on one or two symptoms and couldn’t make a specific diagnosis. We connect all the seemingly random symptoms to one, cohesive diagnosis based on the characteristics of each type of EDS.
Every type but hypermobile EDS can be verified with genetic testing; it’s the most common type but the only one without an identified genetic cause.
Vascular EDS, the most serious type, increases the risk of organ rupture, and patients might need to see a cardiologist to determine whether their heart or blood vessels have been damaged. Patients might also need X-rays or CT scans to look for damage in other organs, ligaments, joints, or bones.
The sooner we can diagnose the disorder, the faster we can help improve a patient’s quality of life with personalized treatment.
Managing symptoms with customized treatment
If a healthy person usually operates on a “full tank of gas,” patients with EDS only have about a “quarter tank” of energy by comparison. The stronger they become – mentally and physically – the more they fill their tank and feel better.
Until we find a cure, the goal of EDS treatment is to increase strength, which will decrease pain, discomfort, and fatigue. Every patient experiences different symptoms, so we customize treatment plans by collaborating with our pain management colleagues.
Common treatments include:
- Occupational therapy to improve joint stability, especially in the hands.
- Splints/bracing to prevent hyperextension
- Strengthening exercises and education on joint protection to complete functional activities.
- Pain-relieving gel or cream
- Warm baths with Epsom salts
- Orthopedic support, such as a brace, assistive device, or splint, to stabilize and protect muscles and joints
- Cognitive behavioral therapy to help patients cope with the pain and emotional stress
- Medication for pain, insomnia, and anxiety or depression
- Speech therapy to improve swallowing function
- Physical therapy for education on the disease process, low-impact exercise, such as Tai chi and cycling, strengthening exercises to improve endurance and stabilize joints, and bracing to stabilize joints and decrease discomfort.
Three of our expert physical therapists and one occupational therapist (who is also a certified hand therapist) are specialized in treating EDS.
We also provide patients with instructional materials that describe actions to avoid – such as excessive stretching, high-impact exercises, and contact sports, which can increase pressure on the joints. For continued learning and support group resources, we direct patients to the Ehlers-Danlos Society.
Related reading: 7 natural supplements that might relieve back, joint, and muscle pain
Be your own advocate
It’s important to inform other medical providers about your condition – especially if you’re pregnant or having surgery. Your care team will need to factor EDS into your recovery, which might take longer. Don’t be afraid to speak up if you’re concerned about how a medical procedure might affect your condition.
After years of having their symptoms questioned or dismissed, many patients are reluctant to accept the support they need, fearing judgment from others if they use a wheelchair, drive with a disabled parking placard, or walk with an assistive device. We provide patients with the medical and emotional perspective they need to understand that they have a very real condition. And we provide the expert treatment it takes for them to start feeling better.
To visit with an Ehlers-Danlos syndrome expert in Dallas, Frisco, or Fort Worth, call 214-645-8300 or request an appointment online.
