Gastrointestinal Symptoms in Marfan Syndrome and Hypermobile Ehlers-Danlos Syndrome


Non-inflammatory joint pain is a common feature in many patients with EDS. Rheumatoid Arthritis(RA),Systemic Lupus Erythematosus(SLE), and Sjogren’s syndrome(SS) are inflammatory acquired rheumatologic conditions.

In patients with functional heartburn who failed standard dose PPI, the hypersensitive oesophagus subgroup may potentially respond to higher doses of PPI. Further suppression of gastric acid and thus minimisation of oesophageal acid exposure may eventually result in symptom improvement or possibly complete symptom relief. While using omeprazole 40 mg daily over a period of 14 days, Schenk et al demonstrated a 37% symptom response rate in patients with functional heartburn.19 In another study, omeprazole 40 mg in the morning and 20 mg in the evening were administered for a period of seven days to patients with functional heartburn.21 More than 40% of patients reported a greater than 50% reduction in symptom intensity.

Musculoskeletal pain can start early and be chronic. Weakness, fatigue, and mild impairment of mobility and daily activities might also occur. What we know about how EDS affects the digestive system and the type of gut problems that can occur. With information on diagnostic tests and the treatment options available to you.

There is an urgent need for rheumatologists to accept the challenges posed by hypermobility-related disorders, which have, in the past, fallen by default to clinical geneticists untrained in rheumatology. You may also find it useful to contact a support group. Both the Hypermobility Syndromes Association and Ehlers-Danlos Support UK have a network of local support groups where you can meet other people with JHS and Ehlers-Danlos syndrome (EDS).

No patient included in this study complained of nocturnal heartburn but all were troubled by EDS such that the assistance of a gastroenterologist was sought. Based on inquiries conducted after completion of the questionnaires, it was apparent that all subjects in the study were likely to have experienced at least light nocturnal heartburn approximately once weekly. Unfortunately, no accepted questionnaire is currently available to define the degree of nocturnal heartburn, and patients in this study were not willing to submit to measurements of nighttime heartburn with instruments required for esophageal testing. Future studies focusing on consequences of nocturnal as opposed to daytime GERD are indicated; nocturnal symptoms are associated with significant impairment of health-related QOL and nocturnal acid reflux is associated with severe esophagitis, stricture, and esophageal adenocarcinoma [3, 28].

In our experience, upper gastrointestinal endoscopy seems useful and safe to detect Barrett’s esophagus in this population with a high rate of GERD. On the other hand, the matter of colonoscopy is more sensitive. Indeed, the risk of perforation is clearly significant in vascular colonoscopy and EDS should be strongly discouraged in this population. Additionally, the risk of any complication (perforation or bleeding) is theoretically increased in other EDS subtypes, although not quantifiable and although no patient in our cohort underwent any complication.

Changes in the collagen proteins can mean that these structures are more ‘stretchy’ in EDS. Current literature suggests an association between all subtypes of GI and EDS symptoms.

However, it is also possible to experience reflux and/or heartburn symptoms without having a hiatus hernia. These symptoms can be associated with dysmotility, increased sensitivity of the oesophagus, or be experienced in isolation with none of these underlying causes. There are reports of improvement of hEDS-related symptoms following patient-led trial-and-error diets, as well as through the use of nutrition via a tube or into a vein. Carefully controlling nutrient intake using supplements and changing lifestyle may have an effect on symptom severity in EDS. In the author’s own experience, low FODMAP (fructose, oligosaccharides, disaccharides, monoamines, and polyols) diet is frequently used to good effect for bloating, pain, and diarrhea; these features often overlap with irritable bowel syndrome (IBS) where the efficacy of this diet is now well established.

The type, frequency and severity of digestive symptoms can vary greatly from person to person as everyone with hEDS is different. The most frequently reported problems affecting the upper digestive tract are acid reflux and chronic/recurrent indigestion with pain or discomfort and early fullness after meals. The lower digestive tract can present problems such as constipation, abdominal pain, bloating, diarrhoea and a feeling of general abdominal discomfort. Treatment consists of medications and physical therapy often.

Loose joints cause increased strain on nearby soft tissues (muscles, ligaments, tendons) that stabilize them. These soft tissues themselves often are overly lax, and because of their laxity and the increased strain on them, they are prone to tearing and spasm, leading to pain and stiffness around joints. The pain may or may not be clearly related to any specific activity..

But I also have to wait a bit after I take them because if I get horizontal too fast, I get wicked awful heartburn almost immediately. I’m assuming it’s because of the EDS, and my esophageal flap or whatever isn’t staying closed properly when I lie down, so the acid that’s churned up from juice or whatever + pills just runs straight up into my mouth. I was wondering if anyone else has had that problem here, and if so, if you’ve gone on any prescription heartburn meds for it (and if so, which ones have worked). I take a generic pepcid (ranitidine 150mg) with my nighttime pills, because otherwise I wake up with bile, and if I sleep more than 12 hours I wake up with bile anyway, between the pepcid wearing and my empty stomach by then off. Sleeping in a reclining position isn’t a option for me; I have fibromyalgia and chronic insomnia also, and I’ve never been able to sleep even partially upright except when I have a head cold, and then it’s out of desperation.

Physical therapy, psychological methods (such as cognitive behavioural therapy), specialist pain management and dietary guidance can all play a part in better symptom management. But like medications just, these methods must be undertaken upon the advice of your doctor and under the appropriate supervision of a professional familiar with your condition. It is also worth remembering that no treatment or therapy is going to ‘cure’ you and not every option may be of benefit for everyone. After assessment your doctor shall develop a plan for your treatment which is most suited to you, based on the current available evidence.

Recent studies have suggested an association between connective tissue hypermobility and functional gastrointestinal disorders (FGDs). The aim of this study is to determine the prevalence of gastrointestinal symptoms in patients with Marfan syndrome and hypermobile EDS. Method. Patients with a diagnosis of either MS or hEDS attending cardiology or rheumatology outpatients at our hospital were asked to complete SF36 RAND and Rome IV Diagnostic questionnaires. Questionnaires were completed by patients who are members of Marfan Association UK also. The same questionnaires were also completed by age- and gender-matched controls attending fracture clinic without existing diagnoses of MS or hEDS.

Chronic pain, asthenia, and pelvic and gastrointestinal dysfunction are characteristic additional manifestations. We report on 21 HT-EDS patients selected from a group of 40 subjects with suspected mild hereditary connective tissue disorder. General, mucocutaneous, musculoskeletal, cardiovascular, neurologic, gastrointestinal, urogynecological, and ear-nose-throat abnormalities are investigated systematically and tabulated. Six distinct clinical presentations of HT-EDS are outlined, whose tabulation is a mnemonic for the practicing clinical geneticist in an attempt to diagnose this condition accurately. With detailed clinical records and phenotype comparison among patients of different ages, the natural history of the disorder is defined.

eds and acid reflux

Leave a Comment

Your email address will not be published. Required fields are marked *