Introduction
Hypermobile Ehlers-Danlos Syndrome (hEDS) is a hereditary connective tissue disease characterized by joint hyperlaxity, skin hyperextensibility. Many patients report gastrointestinal (GI) involvement, including gastroesophageal reflux symptoms, abdominal pain, bloating, abdominal pain and bowel habits alteration. In order to manage GI symptoms, patients may observe dietary restrictions which contribute to weight loss and nutritional deficiency ( Zeitoun JD et al, 2013); (Di Francisco-Donoghue J. et al, 2022); (Phoebe A Thwaites et al, 2022).
Aims & Methods
The aim of the study was to assess the effect of GI symptoms and dietetic restrictions on body composition in hEDS. 25 hEDS patients (pts) (92% females, mean age 41.6±14 years) referred to the “Rare Diseases Desk” at the Polyclinico Umberto I, University of Rome “Sapienza” were enrolled in the study in the years 2017-2019. All pts filled in the standardized “Rome III” questionnaire (in use in the referred period)investigating proximal and distal GI symptoms, The Irritable Bowel Severity Scoring System (IBS-SSS) to evaluate severity of symptoms, a 2 weeks food diary for self-monitoring dietary intake, and bioimpedance analysis (BIA) to study body composition (Akern BIA 101 instrument). Daily intake of carbohydrates (CHO), lipids and proteins was compared with "Reference Intake Levels of Nutrients and Energy for the Italian Population” (LARN) and the estimated total daily energy expenditure (BRM) was compared with the Harris–Benedict equation. Data are expressed as mean or percentage and statistical analysis using Pearson test.
Results
All patients reported almost a GI symptom with a IBS-SSS mean of 293,6 ±112. The most notable symptoms were epigastric pain (96%), bloating and abdominal pain (64%), dysphagia (4%), heartburn (64%), non cardiogenic chest pain (68%) and nausea (68%). The analysis of food diaries showed a daily calorie deficiency in 40% of pts (1330±346 kcal/day vs BMR of 235.8±219.1 kcal/day in females and 1575±176.8 kcal/day vs BMR of 174±14 kcal/day in males). Regarding macronutrients, the analysis showed an inadequate intake of protein in 66% of pts (daily percentage of protein was 15,9±2,9/day) of CHO in 41% and lipid in 50% of pts (daily percentage CHO consumed was 51%±0,6/day and 24,6±2,6/day for lipids). Analysis of BIA showed a fat free mass (FFM) level of 71.4% ±7,9 (n.v 75-82%), fat mass (FM) level of 28,4% ±7,8 (n.v. 18-25%), hydration level of 73% ±12 (n.v. 72,7-74,3%).
Conclusion
Our study confirms that gastrointestinal disorders are common in patients in hEDS and probably multiple symptoms may influence the quality of diet.The high value of IBS-SSS suggests these symptoms may have relevant role in the management of diet. According to LARN, hEDS had a sbalanced, predominantly caloric and protein- deficient diet which may negatively affect the body composition, regarding FFM and FM. It is reasonable to hypothesize that the dietetic restrictions we observed are in relation to severity of GI symptoms but studies involving more patients are needed to draw definitive conclusions.
References
DiFrancisco-Donoghue J, Southard V, Margulies M, Jung MK, Allera A, Riley B. Assessment of gastrointestinal function and its' effect on bone mineral density and body composition in hypermobility spectrum disorder and hypermobile Ehlers-Danlos syndrome. J Clin Densitom. 2022 Oct-Dec;25(4):536-543. doi: 10.1016/j.jocd.2022.07.005. Epub 2022 Jul 28. PMID: 35945116.
Zeitoun JD, Lefèvre JH, de Parades V, Sejournè C, Sobhani I, Coffin B, Hamonet C. Functional digestive symptoms and quality of life in patients with Ehlers-Danlos syndromes: results of a national cohort study on 134 patients. PLoS One 2013 Nov 22;8(11):e80321
Hypermobile Ehlers-Danlos syndrome and disorders of the gastrointestinal tract: What the gastroenterologist needs to know. Phoebe A Thwaites et al. J Gastroenterol Hepatol. 2022 Sep
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