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.

Contrasting liver function test patterns in obstructive jaundice due to biliary strictures [corrected] and stones.

BACKGROUND: Obstructive jaundice is believed to be characterized by abnormalities of alkaline phosphatase (ALP), rather than aspartate transaminase (AST). AIM: To compare liver function tests (LFTs) in obstructive jaundice due to malignant strictures with those of jaundice due to gallstones. METHODS: LFTs were measured immediately before endoscopic retrograde cholangio-pancreatography (ERCP) in 207 jaundiced patients. Group 1 (n = 69) had malignant strictures, group 2 (n = 97) had common bile duct stone(s), and group 3 (n = 41) appeared to have recently passed a stone. LFTs in groups 2 and 3 were also analysed at maximal liver enzyme derangement, maximum hyperbilirubinaemia and during acute pain episodes. RESULTS: Group 1 had higher median bilirubin, AST and ALP levels than groups 2 or 3 (p < 0.001). In group 1, median rise in ALP exceeded that in AST (4.3 x normal upper limit (NUL) vs. 2.6 x NUL, p < 0.01), but in groups 2 and 3, AST and ALP were similarly elevated (both approximately 2 x NUL). At the time of maximum enzyme derangement in groups 2 and 3, median AST elevation (4.4 x NUL, 185 IU/l) exceeded that for ALP (2.4 x NUL, 276 U/l), (p < 0.001), and this was also true at peak hyperbilirubinaemia in these groups (AST 3.6 x NUL, ALP 2.4 x NUL, p < 0.01. Similarly, severe pain episodes in groups 2 and 3 were accompanied by greater elevations in bilirubin and AST, but not ALP, compared with levels at ERCP. DISCUSSION: The conventional wisdom that ALP rises more than AST in obstructive jaundice holds true where the jaundice is due to strictures, but in obstructive stone disease, the rise in AST may equal that in ALP, or even exceed it during maximum jaundice and during painful episodes. Clinicians should consider the possibility of extrahepatic biliary obstruction, even when AST is the predominantly elevated enzyme.