The Journal of Pediatric Gastroenterology and Nutrition published a study that investigated the prevalence of gastrointestinal (GI) disorders in children and young adults with Hypermobile Ehlers–Danlos syndrome (hEDS) and Joint hypermobility syndrome (JHS) through a single-centre retrospective review. 

Researchers found a higher prevalence of constipation, dysphagia, Eosinophilic Oesophagitis (EoE) and other conditions in the cohort of patients with hEDS/JHS.

What are Hypermobile Ehlers–Danlos Syndrome (hEDS) and Joint Hypermobility Syndrome (JHS)?

Hypermobile Ehlers-Danlos syndrome (hEDS) is a genetic disorder affecting connective tissue. It is characterised by symptoms like hypermobile joints, stretchy skin, and tissue fragility.

Joint hypermobility syndrome (JHS), also known as benign joint hypermobility syndrome (BJHS), shares many similarities with hEDS, including symptoms like joint pain, frequent dislocations, and stretchy skin.  

They are part of a group of disorders that alter the body's connective tissues, which provide strength and elasticity to the skin, bones, blood vessels, and other organs.

The diagnosis typically involves a clinical assessment by a healthcare professional, who may use criteria such as the Beighton scoring system to evaluate joint flexibility.

Adult patients with JHS have significantly increased GI symptoms such as dyspepsia, gastroesophageal reflux disease (GERD), irritable bowel syndrome (IBS), and conditions such as abdominal hernia, diaphragmatic hernia, and rectal prolapse, which can significantly impact their quality of life. 

Learn more about hEDS and JHS.

What are Eosinophilic-Associated Diseases (EADs)

Eosinophilic-Associated Diseases (EADs) are a group of conditions characterised by high levels of eosinophils, a type of white blood cell, which can cause inflammation and damage in various tissues and organs.

The most common is Eosinophilic Oesophagitis (EoE), which affects the oesophagus and can lead to swallowing difficulties. Other types include Eosinophilic Gastrointestinal Disorders (EGID), affecting different parts of the digestive system.

These diseases often share symptoms with other common conditions, making diagnosis challenging. Treatment typically involves managing the underlying allergies or other triggers contributing to the eosinophilic response.

Read more about types of EADs

The association between EADs and joint hypermobility is an area of ongoing research. This association highlights the importance of a multidisciplinary approach to diagnosis and treatment, considering the complex interplay between the immune system, connective tissue, and rheumatologic factors.

The Study

This single-centre retrospective study identified patients with GI symptoms and a prior diagnosis of hEDS or JHS. Diagnoses were confirmed by rheumatology or genetics specialists using established clinical criteria, including the Beighton scoring system.

The investigators screened electronic medical records of patients from March 2011 to December 2017 using the International Classification of Diseases-10 codes and terms such as "hypermobility syndrome," "joint hypermobility," and "hypermobile Ehlers-Danlos syndrome." They collected demographics, clinical history, symptoms, comorbidities, and diagnostic work-up data. Based on clinical definitions, they classified studies as normal or abnormal.

The investigators then collected ordinal and categorical data, calculating counts and percentages to estimate the prevalence of GI disorders in subjects with hEDS/JHS.

Study Results

The study identified 435 hEDS/JHS patients with GI symptoms, primarily females (66%) and Caucasians (94%), aged 5 to 28 years (median 16 years). Researchers performed upper endoscopies on 67% (293/435) of patients, with 34% showing histological abnormalities. Colonoscopies were performed on 111 patients, with 24% showing abnormal histological results.

• The most common symptom was constipation (61%), followed by dysphagia (32%).
• About 25% reported dyspepsia-related symptoms such as abdominal pain, nausea, vomiting, early satiety, or weight loss.
• The most common diagnosis was EoE (21%), followed by celiac disease (4%).
• The most common colonoscopy findings were Eosinophilic Colitis (EoC), Microscopic Colitis (MC), and Inflammatory Bowel Disease (IBS).

Conclusions

This study highlights the increasing recognition of GI symptoms in hEDS/JHS paediatric and young adult patients. Compared to the general population, this cohort shows a high prevalence of EADs and celiac disease.

Given these findings, researchers recommend routine GI symptom screening in hEDS/JHS patients, with a low threshold for endoscopy and further referrals and investigations as needed.

They highlight the need for future prospective trials to determine the natural history of symptom progression and treatment outcomes, as well as translational studies analysing connective tissue dynamics in GI disorders within this population.

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