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.

Parenteral nutrition.

Over the last 50 years, parenteral nutrition has been recognised as an invaluable and potentially lifesaving tool in the physician's arsenal in the management of patients with intestinal failure or inaccessibility; however, it may also be associated with a number of potentially life-threatening complications. A recent NCEPOD report (2010) identified a number of inadequacies in the overall provision and management of parenteral nutrition and recommendations were made with the aim of improving clinical practice in the future. This paper focuses on the practical aspects relating to parenteral nutrition for adults, including important concepts, such as patient selection, as well as general management. We also explore the various pitfalls and potential complications and how these may be minimised.

Risks for developing critical illness with GI hemorrhage.

STUDY OBJECTIVES: To define risk factors, identifiable on initial presentation, that predict subsequent physiologic derangements that are consistent with critical illness in patients presenting to hospital with GI hemorrhage (GIH). DESIGN: Observational, cohort study. SETTING: Fourteen-bed medical ICU in a 300-bed community teaching hospital. PATIENTS: One hundred ninety-three patients were studied during 199 separate hospital admissions for GIH. METHODS AMD MEASUREMENTS: Demographic and physiologic variables were extracted from the medical records of patients admitted with GIH. Comprehensive data, from after 2 h in the emergency department to the time of discharge or death, were used to determine whether patients met established ICU admission criteria. Physiologic and demographic data from the initial 2-h period were then compared for patients who subsequently met and for those who did not meet ICU admission criteria. Independent predictors of meeting ICU admission criteria were identified using multiple logistic regression analyses. Sensitivity and specificity associated with the combined use of these predictors were assessed. RESULTS: Thirty-four patients satisfied ICU admission criteria after the initial 2-h period in the emergency department. Sixty-five patients, including 29 of 34 patients who met ICU admission criteria, were actually admitted to the ICU. Among those who never fulfilled ICU admission criteria, the duration of hospital stay was longer for those admitted to the ICU than for those not admitted to ICU (6.6 +/- 0.6 days vs 5.2 +/- 0.3 days; p = 0.04). The admission prothrombin time (international normalized ratio > 1.2), hypotension (systolic BP < 90 mm Hg), acute neurologic changes, and initial APACHE (acute physiology and chronic health evaluation) II score ( > or =15) were the best independent predictors for meeting the defined criteria for admission to ICU. The presence of one or more of these in the first 2 h of presentation was associated with a sensitivity of 88% and specificity of 74% for predicting subsequent critical instability. The area under the receiver operator characteristic curve for use of these four variables was 86% for predicting whether patients met ICU admission criteria. CONCLUSIONS: Many patients with GIH were admitted to the ICU who never met local criteria for admission, and these patients experienced a significantly longer length of hospital stay than other, similarly ill patients. Coagulopathy, hypotension, neurologic dysfunction, and a higher (> or = 15) APACHE II score in the first 2 h of hospitalization were the best independent predictors of the subsequent development of critical illness.