Connective tissue (CT) makes up the outermost layer of the digestive tract yet little is still known about its role in disorders affecting this area of the body.
When CT is subject to inflamation, gastrointestinal symptoms and gastrointestinal dysfunction is common, but very little research has examined the role of non‐inflammatory connective tissue abnormalities in causing gastrointestinal symptoms and dysfunction.
Joint hypermobility syndrome (JHS) ‐ also known as Ehlers Danlos Syndrome type III (EDS III) – is a relatively common non‐inflammatory CT disorder affecting around 5% of the population. Individuals affected by this have a phenotype (gene arrangement) which leads to a greater degree of joint flexibility (sometimes known as being double-jointed).
Preliminary studies carried out by the researchers suggested that these individuals also experience problems with the digestive system and have abnormalities in its anatomy and physiology. As interesting, there is a suggestion that the prevalence of this phenotype is higher than expected in patients with functional gastrointestinal disorders (FGID), such as Irritable Bowel Syndrome (IBS), suggesting that patients with these CT disorders may be predisposed to developing GI dysfunction. To date this association between JHS and FGID has not been systematically studied.
The aim of this project was to investigate the role of abnormal connective tissue in the pathophysiology of GI symptoms in patients with JHS. As a result the group intended to answer the following:
1) Is there an association between JHS and FGID?
2) What is the nature of the association?
The project was led by Professor Qazim Aziz, Professor of Neurogastroenterology with collaboration from Professors Rodney Grahame, Honorary Professor in Rheumatology, UCL and Joan Morris, Professor of Medical Statistics, Barts & the London. Funding from Bowel & Cancer Research supported a Clinical Research Fellow who undertook the project on a day-to-day basis.
Why Are We Doing It?
Functional Gastrointestinal Disorders (FGIDs) describe a group of disorders in which patients have symptoms but current routine tests and clinical examination detect no disease. Irritable Bowel Syndrome (IBS) is an example of such a disorder. These problems, however, are very common in the general population; they can cause a great deal of misery and severely affect quality of life – chronic pain, problems eating and often marked intolerances to certain foods are characteristic.
As no clinical basis can be found for symptoms, individuals often find themselves labelled as psychologically dysfunctional, health‐seeking or overly sensitive to pain. Our lack of knowledge about these disorders means that, despite their impact, there are no specific drugs targeting this problem, and treatment is based on symptom management.
Patients with the hypermobility syndrome have very poor quality of life, made worse by the multi-system nature of their disorder. One of the main features of their disorder is poor wound healing, resulting in poor surgical outcomes and slow recovery to surgery. Several of these patients do end up with stomas for severe constipation, but once again their outcome is poor due to residual GI dysfunction in other parts of the GI tract, and to high risk of complications surrounding the stoma.
Identifying these patients early will eliminate the need for ineffective surgery and will enable a focus on alternative treatments which are less invasive and more effective for them. It will also enable these patients to be treated as a unique subgroup with the aim of developing more targeted and holistic treatment for their GI and non-GI problems.
This was the first study to investigate the association between hypermobility disorders and GI disorders, and confirmed that patients with very flexible joints and hyper-elastic skin are more prone to developing GI disorders which affect the motility and sensation of the gut.
These patients have multiple co-morbidities, and poor quality of life, and identifying them early may allow for more timely diagnosis and therefore earlier management of the GI and non-GI symptoms. The team now wish to undertake further work to determine the reason behind this association.
Part of the work from this research was presented as an oral presentation at the Neurogastroenterology and Motility Conference in Bologna (Sept 2012)
“Gastrointestinal Symptoms in the Joint Hypermobility Syndrome” was a poster presentation at the event and this together with “Autonomic dysfunction and gastrointestinal symptoms in the Joint Hypermobility Syndrome” are to be published as an abstract in the journal Neurogastroenterology and Motility.
“Gastrointestinal Symptoms in Ehlers Danlos Syndrome Type III” was presented as a poster at the Ehlers Danlos Symposium (Sept 2012).