Houssam Halawi

Prediction of celiac disease at endoscopy

BACKGROUND AND STUDY AIMS Celiac disease is increasingly recognized worldwide, but guidelines on how to detect the condition and diagnose patients are unclear. In this study the prevalence and predictors of celiac disease were prospectively determined in a cross-sectional sample of Lebanese patients undergoing esophagogastroduodenoscopy (EGD). PATIENTS AND METHODS Consecutive consenting patients (n = 999) undergoing EGD answered a questionnaire and had blood taken for serologic testing. Endoscopic markers for celiac disease were documented and duodenal biopsies were obtained. The diagnosis of celiac disease was based on abnormal duodenal histology and positive serology. Risk factors were used to classify patients to either high or low risk for celiac disease. Independent predictors of celiac disease were derived via multivariate logistic regression. RESULTS Villous atrophy (Marsh 3) and celiac disease were present in 1.8 % and 1.5 % of patients, respectively. Most were missed on clinical and endoscopic grounds. The sensitivity of tissue transglutaminase (tTG) testing for the diagnosis of villous atrophy and celiac disease was 72.2 % and 86.7 %, respectively. The positive predictive value of the deamidated gliadin peptide (DGP) test was 34.2 % and that of a strongly positive tTG was 80 %. While the strongest predictor of celiac disease was a positive tTG (odds ratio [OR] 131.7, 95 % confidence interval [CI] 29.0 - 598.6), endoscopic features of villous atrophy (OR 64.8, 95 %CI 10.7 - 391.3), history of eczema (OR 4.6, 95 %CI 0.8 - 28.8), anemia (OR 6.7, 95 %CI 1.2 - 38.4), and being Shiite (OR 5.4, 95 %CI 1.1 - 26.6) significantly predicted celiac disease. A strategy of biopsying the duodenum based on independent predictors had a sensitivity of 93 % - 100 % for the diagnosis of celiac disease, with an acceptable (22 % - 26 %) rate of performing unnecessary biopsies. A strategy that excluded pre-EGD serology produced a sensitivity of 93 % - 94 % and an unnecessary biopsy rate of 52 %. CONCLUSION An approach based solely on standard clinical suspicion and endoscopic findings is associated with a significant miss rate for celiac disease. A strategy to biopsy based on the derived celiac disease prediction models using easily obtained information prior to or during endoscopy, maximized the diagnosis while minimizing unnecessary biopsies.

Hematological manifestations of celiac disease

Abstract Celiac disease, an autoimmune disease once thought to be uncommon, is now being increasingly identified. Our improved diagnostic modalities have allowed us to diagnose more and more patients with atypical symptoms who improve on gluten-free diet (GFD). We discuss here the latest findings regarding the various hematological manifestations of celiac disease and their management. Anemia remains the most common hematological manifestation of celiac disease due to many mechanisms, and can be the sole presenting symptom. Other manifestations include thrombocytosis and thrombocythemia, leukopenia, thromboembolism, increased bleeding tendency, IgA deficiency, splenic dysfunction, and lymphoma. The diagnosis of celiac disease should always be kept in mind when a patient presents with unexplained and isolated hematological finding. Once diagnosed, patients should adhere to GFD and be educated about the potential complications of this disease. We herein present an algorithm for adequate management and follow-up.

Faecal impaction: in‐hospital complications and their predictors in a retrospective study on 130 patients

Aim  Faecal impaction may be a medical emergency. The frequency of complications of this condition and their predictors are not known. We determined the clinical presentation, the in‐hospital complications and their predictors in 130 patients diagnosed with faecal impaction.

Opposing effects of aspirin and anticoagulants on morbidity and mortality in patients with upper gastrointestinal bleeding

We aimed to determine the effect of antithrombotics on in‐hospital mortality and morbidity in patients with peptic ulcer disease‐related upper gastrointestinal bleeding (PUD‐related UGIB).

Homozygosity for Non-H1069Q Missense Mutations in ATP7B Gene and Early Severe Liver Disease: Report of Two Families and a Meta-analysis

Most patients with Wilsons disease (WD) are compound heterozygote, which complicates establishing genotype-phenotype correlations. We identified five patients who presented with early and/or severe hepatic disease who are homozygous for W939C missense mutation on exon 12 of ATP7B. We therefore conducted a meta-analysis to determine the phenotype of patients homozygous for missense or nonsense mutations in all ATP7B exons.The meta-analysis showed that 69% and 31% of patients are homozygous for H1069Q and non-H1069Q mutations, respectively. Compared to patients with H1069Q, those with non-H1069Q mutations were significantly more likely to have a hepatic phenotype, severe liver disease, a mixed phenotype, and less likely to have a neurologic phenotype. Compared to patients with nonsense mutations, those with non-H1069Q ones were equally likely to present with a hepatic phenotype and to have severe liver disease. Mean age at symptom onset in the non-H1069Q versus the H1069Q group was 15.5 versus 20.5years (p<0.001).Our data suggest that mutation W939C and other non-H1069Q missense mutations are associated with early disease onset, a hepatic phenotype, and a high risk of hepatic failure in homozygous patients. Early identification of such patients by genetic screening is important for timely initiation of treatment and prevention of complications.