Introduction

Patients with Hypermobile Ehlers Danlos Syndrome (hEDS) have a high prevalence of Disorders of Gut-Brain Interaction (DGBI) and pose complex nutritional challenges in gastroenterology clinic. Despite this, little is known regarding nutrient intake and adequacy in hEDS.

Aims & Methods

Our aim was to assess nutrient intake and adequacy of patients with hEDS, as well as to determine which factors, including co-existent DGBI, are associated with poor intake. We conducted a cross sectional survey of patients with hEDS from two tertiary neurogastroenterology clinics as well as the Ehlers-Danlos Support UK. Inclusion criteria were adults with hEDS, exclusion criteria were those currently or previously using artificial nutrition. Patients completed the validated semi-quantitative Scottish Collaboration Group Food Frequency Questionnaire (FFQ) alongside questionnaires characterising: demographics, DGBIs (Rome IV), gastrointestinal, mood, somatic and autonomic symptoms, past history of eating disorders and screen for Avoidant Restrictive Food Intake Disorder (ARFID) using the Nine Item Avoidant-Restrictive Scale (NIAS). Nutrient intake was calculated from the FFQ and nutrient adequacy was calculated by comparison with UK daily reference values (DRVs) for age and sex. Unpaired t-tests were performed to compare nutrient intakes among patients with and without comorbidities, including the most common DGBIs.

Results

425 participants were included in the final analysis (mean: 41 years, 96% female). Only 48.5% reported BMI in the normal range, whereas 5.2% were underweight (BMI <18.5 kg/m²)and46.4% were overweight/obese (BMI >25 kg/m²). Only one third met their estimated average requirements (EAR) for energy (kcal/d). The majority met their reference nutrient intake (RNI) for protein (87.3%) and fat (72.5%), in contrast to only 21.2% for carbohydrate. Fibre intakes were very low (AOAC mean 23.7g/day (SD: 12.7) with only 24.7% meeting the RNI of 30 g/d. More than 58% of participants met/exceeded their DRV for micronutrients (zinc, magnesium, copper, manganese and selenium) and >95% for vitamins. Patients with functional nausea (n=157) were less likely to meet their protein requirements compared to those without (82.2% vs. 90.3%, p=0.015) and also had lower intakes for sodium (p=0.02), magnesium (p=0.02), calcium (p=0.01), zinc (p=0.002), selenium (p=0.03), folic acid (p=0.02) and vitamin C (p=0.05). Patients with previous eating disorders were less likely to meet nutrient requirements for thiamine (p=0.01) and vitamin B12 (p=0.04). Patients with ARFID (n=110) were less likely to meet requirements for all nutrients (except fat, calcium, vitamin D, vitamin B12) compared to patients without.

Conclusion

Patients with hEDS are rarely underweight and tend to consume high protein, high fat diets that are low in fibre. Functional nausea is the single most important DGBI impacting nutrient intake, as well as previous eating disorders and disordered eating (ARFID). These factors should be considered by clinicians and dietitians when assessing nutrient intake in this complex patient group.

Disclosure

RT, AF and QA have received a grant from EDS-UK to conduct this study. AF undergoes consulting work for Abbvie.
KW has received research funding from Almond Board of California, Danone, International Nut & Dried Fruit Council, and has a patent for volatile organic compounds in the detection and management of IBS.
QA undergoes consulting work for Takeda Pharmacueticals, and Classado Biosciences Ltd.

Introduction

Celiac disease (CD) is an autoimmune enteropathy induced by the ingestion of gluten in genetically predisposed individuals. Although its clinical expression is most often digestive, extra-digestive manifestations can occur, among which thromboembolic complications, although rare, deserve particular attention.
The aim of this study is to describe the profiles of coeliac patients with thromboembolic complications, analyze their clinical, paraclinical and etiological characteristics, and discuss the underlying pathophysiological mechanisms.

Aims & Methods

This is a retrospective, descriptive, monocentric study conducted in the hepato-gastroenterology department of Ibn Sina Hospital in Rabat over a 30-year period, from 1995 to 2025. The records of 344 patients followed for celiac disease were reviewed. Patients with one or more documented thromboembolic complications during follow-up were included in the study. Clinical, biological, endoscopic and histological data were collected and analyzed.

Results

Of a total of 344 patients followed for celiac disease in the department, 5.5% (n=19) developed a thromboembolic complication during follow-up. The population concerned was predominantly female, with 89.5% women (n=17) versus only 10.5% men (n=2). The mean age at the time of complication was 39.6 years, with a median of 35.5 years, and extremes ranging from 18 to 62 years.
Endoscopic exploration (oesogastro duodenal fibroscopy) in these patients showed lesions suggestive of celiac disease in 68.4% (n=12), while it was non-specific in 31.6% (n=6), and normal in 5.3% (n=1). Histologically, villous atrophy was found in all patients, with 78.9% (n=15) showing total atrophy (Marsh IIIc) and 21.1% (n=4) subtotal atrophy (Marsh IIIb).
As regards thromboembolic manifestations, portal vein thrombosis was the most frequent complication, observed in 57.9% of cases (n=11). It was followed by deep vein thrombosis of the lower limbs, reported in 15.8% of cases (n=3), and ischemic stroke in 10.5% (n=2). Isolated cases of thrombosis of the inferior vena cava, axillary vein and femoral vein were recorded, each accounting for 5.3% of cases (n=1).
The etiological study revealed hyperhomocysteinemia in 36.8% of patients (n=7) and protein C and/or S deficiency in 21.1% (n=4). In the remaining 42.1% of patients (n=8), the thrombophilia work-up was normal, suggesting that celiac disease itself was the cause of the thrombotic event.
Therapeutically, all patients were treated with oral anticoagulation. One patient required a vena cava filter because of the risk of bleeding on anticoagulation, and another underwent surgical treatment for axillary thrombosis. The outcome was favorable in all cases, with no recurrence or major complication during follow-up.

Conclusion

Thromboembolic complications in celiac disease are rare but potentially serious. This study highlights the predominance of women, the diversity of thrombotic localizations, and the possible involvement of hyperhomocysteinemia and C/S protein deficiencies. In almost half the cases, no thrombophilic cause has been identified, suggesting a role for celiac disease in the genesis of these events. Clinical vigilance is essential, particularly in cases of late diagnosis or poor compliance with the gluten-free diet.