Gastrointestinal Symptoms in Marfan Syndrome and Hypermobile Ehlers-Danlos Syndrome.

OBJECTIVE: Marfan syndrome (MS) is a multisystem disorder caused by a mutation in FBN1 gene. It shares some phenotypic features with hypermobile Ehlers-Danlos syndrome (EDS) such as joint hypermobility. EDS is a group of inherited heterogenous multisystem disorders characterized by skin hyperextensibility, atrophic scarring, joint hypermobility, and generalized tissue fragility. Hypermobile EDS (hEDS) is thought to be the most common type. 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 also completed by patients who are members of Marfan Association UK. The same questionnaires were also completed by age- and gender-matched controls attending fracture clinic without existing diagnoses of MS or hEDS. RESULTS: Data were collected from 45 MS patients (12 males and 33 females, age range 19-41 years, mean 28 years) and 45 hEDS patients (6 males and 39 females, age range 18-32 years, mean 24 years). None had a previous organic gastrointestinal diagnosis. The control group was matched for age and sex (18 males and 72 females, age range 18-45, mean 29 years). Both MS and hEDS groups showed a higher prevalence of abdominal symptoms compared to the control group; however, the hEDS group not only showed a higher prevalence but more frequent and severe symptoms meeting Rome IV criteria for diagnosis of FGIDs. Nearly half of the hEDS patients met the criteria for more than one FGID. The hEDS group also scored lower on quality of life (QOL) scores in comparison to either of the other groups with a mean score of 48.6 as compared to 54.2 in the Marfan group and 78.6 in the control group. CONCLUSION: FGIDs are reported in both Marfan syndrome and hypermobile Ehlers-Danlos syndrome but appear to be more common and severe in hEDS. These patients score lower on quality of life scores as well despite hypermobility being a common feature of both conditions. Further work is needed to understand the impact of connective tissue disorders on gastrointestinal symptoms.

Effects of eosinophilic oesophagitis on quality of life in an adult UK population: a case control study.

Eosinophilic oesophagitis (EoE) is a chronic immune-mediated esophageal disease, characterized by symptoms related to esophageal dysfunction and histologically by eosinophil predominant inflammation. Current evidence for an adverse impact on quality of life (QoL) is conflicting and there are no data from a UK population regarding QoL. We conducted a prospective cross-sectional observational study using the Short Form-36 Health Survey, Hospital Dysphagia/Odynophagia Questionnaire, and the EoE Adult Quality of Life Questionnaire to assess QoL and severity of dysphagia in EoE patients, compared to age and gender matched healthy control subjects. Data were also collected on comorbidity and medication use. Eighty-eight subjects were recruited (44 patients). Patients had higher rates of antihistamine and topical (swallowed) corticosteroid use. Physical QoL did not differ between patients and controls, although patients did report a statistically significant lower mental QoL, with small absolute magnitude of difference. Patients reported higher dysphagia scores and these were negatively correlated with both physical and mental QoL. Higher rates of dysphagia and medication use in patients may among other things account for lower mental QoL. However, a higher rate of dysphagia in patients is not associated with a reduced physical QoL. Our findings are of clinical value, particularly when a new diagnosis of EoE is made, as clinicians can reassure patients that their general physical health should not be greatly affected by the diagnosis. Moreover, it may also be useful for patients to be aware that EoE may have an impact on their mental health, but this effect is likely to be small. We therefore advocate education and reassurance in this respect for all patients at diagnosis.

Inflammatory bowel disease and exercise: results of a Crohn's and Colitis UK survey.

BACKGROUND: Over 250 000 people in the UK are affected with inflammatory bowel disease (IBD) and approximately 10 000 new cases are diagnosed every year. These chronic bowel conditions have been shown to affect both work and recreational activity. In the general population, regular exercise has numerous benefits to health and well-being and there are additional benefits for those with IBD. However, people with IBD face significant challenges in trying to take regular exercise. OBJECTIVE: With the renewed focus on sport brought about by the recent London Olympics, Crohn's and Colitis UK surveyed its members to explore their sport and fitness habits. METHODS: 918 members participated in the survey, which is the largest survey of its kind, investigating the exercise habits of people with IBD. RESULTS: The survey showed widespread uptake of exercise in those with IBD, with a large number feeling better for it. However, it also identified a considerable number of respondents who reported a significant negative impact of IBD on their ability to take up, enjoy and derive benefit from sporting activities. CONCLUSION: Asking questions about sporting leisure activity in clinical consultations may identify those in need of help and support and possibly identify factors to be dealt with, in order to enable them to take part in these beneficial activities.

Perspectives and attitudes of young patients with inflammatory bowel disease: symptoms, burden of disease and communication with their healthcare professionals.

INTRODUCTION: Inflammatory bowel disease (IBD) affects a significant proportion of young patients in the UK. The role of the healthcare professional, and their relationship with the young patient is particularly important at this difficult stage of their life, when education, social integration and career planning, can be dramatically affected by this consuming condition. OBJECTIVES: To address the attitudes, experiences and erspectives of young patients suffering from IBD, focusing particularly on the relationship between sufferer and healthcare provider. METHODS: Crohn's and Colitis UK invited its young members to respond to a detailed internet based questionnaire addressing various aspects of patients' disease and their relationship with respective healthcare workers. RESULTS: 1081 patients aged 29 years or less responded. Self reported burden of illness was high with only 12% respondents free from a disease flare in the previous 12 months with almost half being hospitalised in the same period. Quality of ommunication with healthcare providers was generally high, with three-quarters of patients feeling appropriately empowered in their healthcare decisions. The IBD nurse specialist was highlighted as a particularly valuable member of the team, scoring the highest of the professional groups in communication comfort scores, as well as being nominated by the patients as the preferred professional group to discuss their disease with. CONCLUSIONS: The results emphasize the considerable impact of the disease that this group is encumbered with, and identifies areas in the patient-professional relationship that can be augmented to improve the overall healthcare of this complex and fragile subgroup of patients.

Temporal trends in imaging and associated radiation exposure in inflammatory bowel disease.

OBJECTIVES: Increasing use of diagnostic imaging in inflammatory bowel disease (IBD) has led to concerns about the malignant potential of ionising radiation in a cohort that have an increased lifetime risk of gastrointestinal malignancy. The aim was to quantify radiation exposure in IBD patients referred from primary care, determine predictors of high exposure and evaluate temporal trends in diagnostic imaging over a 20-year period. METHODS: This was a retrospective cohort study whereby IBD patients were recruited from the outpatient clinic and evaluated retrospectively. The total cumulative effective dose (CED) received from tests was calculated for each subject. Cox regression was performed to assess factors associated with potentially harmful levels of ionising radiation defined as total CED > 50 milli-sieverts (mSv; equivalent to five CT abdomen scans). RESULTS: The cohort included 415 patients. Median total CED was 7.2 mSv (IQR: 3.0-22.7) in Crohn's disease and 2.8 mSv (IQR: 0.8-8.9) in ulcerative colitis patients, respectively. A total of 32 patients (8%) received a CED > 50 mSv. A history of IBD-related surgery was associated with high exposure (HR 7.7). During the study period, usage of abdominal CT increased by 310%. CONCLUSION: Approximately 1 in 13 patients in the study cohort were exposed to potentially harmful levels of ionising radiation. Strategies to minimise exposure to diagnostic medical radiation in IBD patients are required.

Uncomplicated diverticular disease is not a common cause of colonic symptoms.

BACKGROUND: Colonic diverticular disease is common among older individuals whereas colonic symptoms, such as those of irritable bowel syndrome, are frequent in the general population. AIM: To determine among patients in secondary care, if uncomplicated diverticular disease is a common cause of colonic symptoms. METHODS: Patients aged ≥50 years attending gastroenterology out-patient clinics or scheduled for colonoscopy or barium enema in a secondary care hospital were invited to take part. Those with structural gastrointestinal diseases were excluded. Participants completed a locally validated Rome II questionnaire on colonic symptoms. Patients with diverticular disease were compared with those without. RESULTS: Seven hundred and eighty four patients with no structural pathology other than diverticular disease or benign colonic polyps completed the study. A total of 744 patients underwent colonoscopy, 40 barium enema. Of these, 281 patients had diverticular disease. Among patients with and without diverticular disease, the frequency of abdominal pain, diarrhoea, constipation and irritable bowel syndrome were 123 (44%) and 226 (46%), 44 (16%) and 80 (17%), 38 (14%) and 80 (17%) and 66 (25%) and 119 (25%), respectively (N.S.). CONCLUSION: Uncomplicated colonic diverticular disease is not a common cause of colonic symptoms among patients in secondary care.

The NHS Bowel Cancer Screening Programme--a realistic approach with additional benefits.

Colorectal cancer (CRC) is the third most common cancer and the second most common cause of cancer death in the UK with 36 100 new cases diagnosed each year in England and Wales and 55% of all patients presenting with lymph node metastases at the time of diagnosis. Early detection, before the development of symptoms, may be an effective way of reducing mortality and it is this which a screening programme seeks to address. The NHS Bowel Cancer Screening Programme (NHS BCSP) commenced in April 2006 and invites men and women aged 60-69 to participate via submission of a faecal occult blood test every 2 years; those with a positive result will be offered colonoscopy as the next investigation of choice. This article will explore the background to the programme, including the financial considerations behind it and the implication that this has had on colonoscopy standards and training in the UK. The chosen programme is not the most effective neither in terms of survival benefit nor cost effectiveness but is a compromise within a financially strained health care system. Endoscopy standards because of its introduction have, however, considerably improved in terms of patient experience, safety and improved practice.

Systematic review: does gastro-oesophageal reflux disease progress?

BACKGROUND: Gastro-oesophageal reflux disease affects approximately 20% of western populations. Barrett's oesophagus, associated with severe gastro-oesophageal reflux disease, is premalignant and regular endoscopic surveillance is generally performed. In contrast, mild gastro-oesophageal reflux disease is thought not to progress and is not generally subjected to endoscopic follow-up. Aim To investigate whether gastro-oesophageal reflux disease progresses endoscopically. METHODS: Systematic review of the literature. RESULTS: Well-designed prospective studies are few, diagnostic criteria were not always standardized, management strategies varied and various sources of bias could not be excluded. Whilst most patients do not progress to more severe forms of gastro-oesophageal reflux disease, and some cases actually regress, progression is seen in a small proportion of patients. Annual progression rates for non-erosive gastro-oesophageal reflux disease developing erosive oesophagitis ranged from 0% to 30%. About 1-22% of patients with mild erosive oesophagitis developed more severe inflammation annually, while 1-13% of patients with erosive oesophagitis developed Barrett's oesophagus each year. CONCLUSION: Although most patients with gastro-oesophageal reflux disease do not progress, and some actually regress, progression does occur in a minority. Better data are required to determine whether patients with mild gastro-oesophageal reflux disease would benefit from increased surveillance with the aim of detecting more advanced disease.

Routine transferrin saturation measurement in liver clinic patients increases detection of hereditary haemochromatosis.

BACKGROUND: Hereditary haemochromatosis (HH) is one of the commonest genetic disorders in European populations. Transferrin saturation (TFS) measurement has been advocated as a phenotypic screening test to improve detection. We undertook a prospective study to examine the value of routine TFS measurement in detecting new cases of HH in unselected liver clinic attenders. METHODS: Non-fasting TFS was measured in new patients. HH mutations were determined in those with elevated TFS (>45%) and all who underwent liver biopsy. Liver biopsy was performed in 349 patients, including all found to be C282Y homozygotes or compound heterozygotes. RESULTS: Of 667 new patients attending over 5 years, 156 had TFS >45% and 18 had significant mutations (12 C282Y homozygotes and six compound heterozygotes). Eleven of the 12 C282Y homozygotes identified had an elevated TFS and 10 had significant hepatic siderosis. Only two of the six compound heterozygotes had an elevated TFS and hepatic siderosis. CONCLUSIONS: The prevalence of new HH cases in patients of European origin attending a liver clinic, detected by phenotypic screening over a 5-year period, was 2.8%. All were identified by a TFS cut off >45%, but TFS >60% provided the best combination of sensitivity and specificity for detecting C282Y homozygosity.

Review article: faecal markers in the assessment of activity in inflammatory bowel disease.

The fundamental pathological process behind ulcerative colitis and Crohn's disease is intestinal inflammation. As the precise cause of this is not yet completely understood, current treatment strategies are aimed at reducing or eliminating the inflammation. Endoscopic examination and histological analysis of biopsy specimens remain the 'gold standard' methods for detecting and quantifying bowel inflammation; however, these techniques are costly, invasive, and repeated examinations are unpopular with patients. Disease activity questionnaires and laboratory 'inflammatory markers', although widely used, show an unreliable correlation with endoscopy and histology. New markers need to be developed to detect and quantify bowel inflammation. These would be of use diagnostically and also an aid to pharmacological treatment.