What is Ehlers-Danlos syndrome? 

Ehlers-Danlos syndrome is a group of 13 inherited disorders that affect the connective tissues — primarily the skin, joints, and blood vessel walls. Connective tissues are a complex mixture of proteins and other substances that provide strength and elasticity to the underlying structures in your body. The condition has some important nutrition implications that dietitians should be familiar with. 

How common is Ehlers-Danlos syndrome?

Each type of Ehlers-Danlos syndrome has a different prevalence in the population. Hypermobile Ehlers-Danlos syndrome (hEDS) is the most common type of Ehlers-Danlos syndrome and accounts for 90% of cases diagnosed. Ehlers-Danlos syndrome is classified as a rare disorder and may be misunderstood and underdiagnosed. Diagnosis can be made during toddler years or adolescence (10 to 12 years of age) up until adulthood. Males and females are equally affected.  

What causes Ehlers-Danlos syndrome?

Each type of Ehlers-Danlos syndrome is caused by variants in specific genes that provide the instructions for making collagens and related proteins. The genetic cause(s) of hEDS have not been identified, although Ehlers-Danlos syndrome can be inherited from parent to child. 

What are connective tissues and collagen?

Connective tissues are found throughout the body, including the digestive tract, where they provide support, protection, and structure to other parts of the body. Collagen is the primary component of connective tissue. There are different types of collagens with different functions.  

What are the signs and symptoms of Ehlers-Danlos syndrome?

Each type of Ehlers-Danlos syndrome is associated with different symptoms and characteristics. Some symptoms are common across all types of Ehlers-Danlos syndrome, such as joint hypermobility, pain, and fatigue. Other symptoms are only observed in specific types of Ehlers-Danlos syndrome. Even within the same type of Ehlers-Danlos syndrome, people can experience very different symptoms from each other.    

There are also many other medical conditions that are often seen in people with Ehlers-Danlos syndrome. These may include types of dysautonomia, mast cell diseases, and postural tachycardia syndrome (PoTS). 

As these conditions are multi-systemic, the problems often go unconnected for many years. Many report being told their symptoms are “all in their head” or that they cannot possibly be experiencing the pain or other symptoms they say they are. Misdiagnosis is common, delaying treatment, or resulting in unnecessary surgeries or unsuitable treatments. 

How is Ehlers-Danlos syndrome diagnosed?

Each type of Ehlers-Danlos syndrome has its own clinical diagnostic criteria. Clinical diagnostic criteria are a set of symptoms and characteristics observed in each condition. If a person meets the diagnostic criteria for a type of Ehlers-Danlos syndrome, the diagnosis can be made. There is currently no genetic test available to diagnose hEDS. 

How does Ehlers-Danlos syndrome affect the digestive system?

Connective tissue is present in the digestive tract and around the nerves. Abnormalities can make the gut more sensitive. This can affect the upper or lower digestive tract. Diagnostic biomarkers have not been identified to better understand the impact on the GI tract.  

Digestive signs and symptoms vary greatly from person to person as everyone with hEDS is different. Reported problems may include the upper or lower GI tracts or both. The following are some of the most common GI-related symptoms those with Ehlers-Danlos syndrome may experience and report:  

• Delayed gastric emptying, dysmotility, or gastroparesis 
• Heartburn, reflux, or indigestion with pain or discomfort 
• Bloating, abdominal pain, or early fullness after meals 
• Nausea and vomiting 
• Constipation or diarrhea 
• Functional GI disorders  

What complications can occur?

Opioid therapy is often used for pain management. This may cause more GI issues, including dysmotility, constipation, or even necrotic bowel. Also, the risk of addiction to pain medications can become concerning.  

Spontaneous perforation of organs can occur in vascular Ehlers-Danlos syndrome (vEDS) with perforated small or large intestines reported.  

The incidence of stomach (peptic) ulcers is not higher in Ehlers-Danlos syndrome patients.   

What tests can be done?

The most common tests used in gastroenterology include: 

Manometry – to study movements of the esophagus, small bowel, or rectum. 

24-hour pH study – to determine if a patient has excessive acid reflux. 

Gastroscopy and/or colonoscopy – endoscopy on the upper and lower GI tracts respectively, to rule out any inflammation or structural abnormalities. Currently there is no evidence that the risks of endoscopy for hEDS sufferers are any greater than in the general population, as direct comparative studies have not been carried out.  Other Ehlers-Danlos syndrome subtypes should discuss their risk of complications on an individual level with their doctor should an endoscopy be requested. 

Stomach emptying tests – to assess for dysmotility/delayed gastric emptying. 

Hydrogen breath test – to determine if a patient has excess bacteria in the gut. 

Barium swallow – an x-ray using barium contrast to study the structure and function of the esophagus. 

Proctography – x-ray tests of the rectum to assess the function of the rectum and anus when passing a stool. This test can identify any underlying mechanical cause, aiding in the direction of further management of constipation. 

How is Ehlers-Danlos syndrome managed?

Management of symptoms is the general goal. A low FODMAP diet can be helpful in reducing bloat and diarrhea. For constipation and dysmotility, prokinetics and colonic stimulants can be considered.  

For mast cell disorder and PoTS, patients will often have a large list of foods that they choose to avoid, including gluten. Venting gastrostomy tubes can be placed to decompress the stomach, as well as jejunostomy tubes placed for supplemental nutrition when inadequate oral intake and dehydration are persistent problems.  

TPN therapy has also been used in this patient population for short- and long-term periods. A trial-and-error approach of medical management is often seen. Non-medicine therapies may include physical therapy, cognitive behavioral therapy, pain management, dietary guidance, and holistic and alternative methods.  

Is there a cure?

The Ehlers-Danlos Society believes that Ehlers-Danlos syndrome is one of the most misunderstood conditions of our time. No treatment or therapy is going to ‘cure’ Ehlers-Danlos syndrome, and not every option may be beneficial for everyone. Often a combination of medicines and non-medicine approaches are used.  

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References: 

“What Is EDS? – The Ehlers Danlos Society.” The Ehlers Danlos Society, https://www.ehlers-danlos.com/what-is-Ehlers-Danlos syndrome/. Accessed February 7, 2024. 

Medline Plus (internet), Bethesda (MD), National Library of Medicine (US), updated July 2022, cited February 7, 2024. Available from https://medlineplus.gov/genetics/condition/ehlers-danlos-syndrome