Ehlers-Danlos Syndrome

By Linda Rath | January 11, 2024

Ehlers-Danlos syndrome (EDS) is a group of hereditary disorders that affect the connective tissues that provide strength and support for your body. There are at least 14 subtypes of EDS – including an extremely rare one that was discovered in 2018. Symptoms and severity vary widely. 

The most common types – hypermobile and classical EDS – are marked by extremely flexible joints prone to frequent dislocations and stretchy, fragile skin. People who have EDS can get deep wounds from minor injuries, but their skin may not be strong enough for stitches and often forms conspicuous scars. The most severe subtype, vascular EDS, can cause fatal ruptures of blood vessels, the intestine and uterus.

People with EDS may experience other symptoms, including severe fatigue, intestinal and mental health issues, and postural orthostatic tachychardia syndrome (POTS), which causes a racing heart and dizziness on standing. As many as half of people with hypermobile EDS may have POTS.

These complications vary, depending on a person’s age, sex, lifestyle and the genes they inherit. Some complications might also result from co-existing conditions, poor nutrition or incorrect or inadequate treatment of the underlying disease.
 

What Causes EDS?

Ehlers-Danlos syndrome is often inherited. Some types occur when there are two copies of an altered gene, one from each biological parent. Others need a copy from only one parent. EDS also can occur in people who have no family history of the disease, though they can pass the altered gene to their offspring.

Children who inherit EDS from a parent will have the same genetic variant as the parent, but not necessarily the same symptoms. Different family members who have EDS can experience it in very different ways.

Scientists have identified variations in 20 different genes that are responsible for Ehlers-Danlos syndrome. Most affect your body’s ability to make or process collagen, the main protein in connective tissue. Because connective tissue is found throughout the body, EDS can damage everything from joints and bone to internal organs, skin and blood vessels. The type, symptoms and severity of the disease depend on which genes are affected. For example, vascular EDS results from a mutation in a gene that tells the body how to make collagen III, which is associated with blood vessels, the intestine and uterus – the parts of the body affected by vascular EDS.

 
Who Gets EDS?

Anyone of any sex, race or ethnicity can get Ehlers-Danlos syndrome. Inherited EDS is present at birth, but signs and symptoms may not appear until puberty. Young children who have EDS may complain of pain in their knees and ankles and in their fingers when writing or doing other tasks. They’re also more flexible and tend to fall and get hurt more than other kids. Yet EDS is often overlooked in children or dismissed as growing pains. On average, it takes about 15 years to get a diagnosis. For some people, it may take decades. This can mean years of fruitless doctor visits and unnecessary tests, treatments and suffering while complications from untreated Ehlers-Danlos syndrome get worse.

 
Hypermobile EDS

Hypermobile EDS is the most common type, making up around 80% to 90% of cases. Its hallmark is loose, stretchy ligaments and tendons, which make for unstable, painful joints that may be prone to osteoarthritis. Arthritis isn’t inevitable or even particularly common with hypermobile EDS. In one analysis of 172 people with this subtype, none developed arthritis, although the vast majority reported joint pain.

People with hypermobile EDS can have lots of other complications, including:

• Chronic fatigue – hypermobile EDS can be misdiagnosed as chronic fatigue syndrome or fibromyalgia or diagnosed along with them.
• Chronic pain – often defined as pain that lasts more than three months and interferes with function or causes psychological harm.
• Heart-related (cardiovascular) dysautonomia, which can include low blood pressure, irregular heart rate and light-headedness, dizziness or fainting when a person stands upright (POTS). Increasing salt and drinking plenty of water can greatly help these symptoms.
• Gastrointestinal problems, including constipation, diarrhea, irritable bowel syndrome, bloating, abdominal pain, acid reflux and hernias. Some of these are related to EDS itself; others may be caused or aggravated by an unhealthy diet.
• Urinary problems, such as urgency, pain and frequent urinary tract infections.
• Anxiety, depression and other mental health issues, which may be related to chronic pain, an overly restricted lifestyle or how people with severe bruising and scarring feel about their appearance. 

How Is EDS Diagnosed?

Diagnosis usually starts with a medical history and a physical exam to check for obvious signs like hyperflexible joints and stretchy skin. Doctors sometimes perform a simple in-office test called the Beighton test, which measures flexibility. Blood tests aren’t helpful in diagnosing EDS, but some people may have imaging tests to check for potential heart complications, such as mitral valve prolapse. Heart complications seem to be less common than once thought, but doctors may still check for them.

The ultimate way to confirm the subtype of Ehlers-Danlos syndrome is with molecular genetic testing. There are a few ways to test:

• Single-gene testing looks for the one gene that can cause a particular subtype of EDS.
• Multi-panel testing looks at several relevant genes. This is more likely to lead to an accurate diagnosis without dragging in a lot of genes not related to the disease.
• Comprehensive gene testing might be the best bet when Ehlers-Danlos syndrome can’t be distinguished from similar diseases. However, it can pick up other altered genes that aren’t serious but might understandably worry patients.

Hypermobile EDS is the only type without a known genetic cause. While it tends to run in families, no one has discovered a gene that causes it.  The inability to genetically test for hypermobile EDS presents challenges. It’s possible to overlook hypermobile EDS, even with strict diagnostic guidelines. Lots of healthy people have hyperflexible joints – dancers, gymnasts and yoga practitioners for example. Skin in hypermobile EDS is also less fragile and likely to scar, making it harder to spot these symptoms.  It’s also possible to misdiagnose someone who is healthy with hypermobile EDS, potentially setting them up for unnecessary tests, treatments, anxiety and stress.

How Is EDS Treated?

There’s no cure for EDS yet, so treatment focuses on relieving symptoms and preventing complications. Because people with hypermobile joints are prone to dislocations and poor wound healing, they’re often asked to limit contact sports and weight lifting. This is sound advice, but it can have the unwanted effect of making people with EDS think they shouldn’t exercise, which experts say isn’t true. Physical activity strengthens and stabilizes unsteady joints and muscles affected by EDS, plus it improves mood and, as with other chronic conditions, can help relieve pain and fatigue. It also helps prevent a downward spiral of increased joint instability, injury and potential arthritis.  Patients often work with a physical therapist to learn the best exercise for them, although many doctors say they encourage patients to participate in whatever activities they enjoy and will stick with.

Recent research, including a 2023 study from the U.K., has shown that in some cases, complications of EDS are linked to diets that include too many sugary, processed foods and not enough fiber-rich fruits, veggies and healthy fats. Studies have found that many GI symptoms of EDS improve with a low-FODMAP diet, which is an eating plan that eliminates hard-to-digest carbs, or with a gluten-free diet. Probiotics, fiber supplements and fermented foods like sauerkraut and miso are also recommended for people with EDS. The goal is to create a healthier microbiome, the trillions of bacteria in the body that are essential for health. An unbalanced microbiome is now linked to most chronic diseases, including inflammatory and autoimmune arthritis.