Diagnosis and clinical behavior in patients with Lynch-like syndrome. / Diagnóstico y comportamiento clínico de pacientes con sospecha de síndrome de Lynch sin mutación conocida.

INTRODUCTION AND AIMS: Lynch-like syndrome is diagnosed when there is an expression deficit in DNA mismatch repair proteins but a normal genetic study. The behavior and management of that pathology are currently a subject of debate. We present herein the characteristics of patients with Lynch-like syndrome, together with a surveillance proposal. MATERIALS AND METHODS: Immunohistochemistry was carried out on families suspected of presenting with Lynch syndrome. Germline analysis was done if there was loss of mismatch repair protein expression and no BRAF mutation. RESULTS: Of the 148 patients that underwent immunohistochemistry testing, 23 presented with loss of mismatch repair protein expression. Seven of those patients were identified as having Lynch-like syndrome: 3had colon cancer, 2had endometrial tumor, and 2were healthy, with an affected relative. Mean patient age was 56.9 years and only one patient presented with another tumor associated with Lynch syndrome. CONCLUSIONS: Until there is a better understanding of the etiology of that heterogeneous entity, intermediate surveillance is an adequate strategy.

Prediction of the presence of esophageal varices using spleen stiffness measurement by transient elastography in cirrhotic patients.

BACKGROUND AND STUDY AIMS: Upper gastrointestinal endoscopy (UGE) is currently recommended in cirrhotic patients to detect the presence of esophageal varices (EV). Spleen stiffness measurement (SSM) with FibroScan has been used for this purpose, showing variable sensitivity (S) and specificity (Sp). The aim of this study was to evaluate the capability of SSM to detect the presence and size of EV in cirrhotic patients in comparison to other noninvasive modalities. PATIENTS AND METHODS: Sixty-six patients with cirrhosis who had undergone UGE in the previous 6 months underwent SSM and liver stiffness measurement (LSM) using FibroScan. Biochemical parameters and ultrasonography data were also collected to calculate other noninvasive indexes. RESULTS: Valid spleen stiffness measurements were obtained for 60 of the 66 patients initially included in the study (90.1%). In the multivariate analysis only splenomegaly and SSM were predictive of esophageal varices. SSM was the most accurate diagnostic tool, obtaining an area under the ROC curve of 0.8 for values below 48 KPascals, with S = 87%, Sp = 69%, and 76.7% of successfully diagnosed patients. CONCLUSIONS: SSM with FibroScan was significantly higher for cirrhotic patients with EV. Our study suggests that spleen stiffness may be useful to identify cirrhotic patients at risk of having EV, although further studies are needed.

Evaluation of the efficacy of therapeutic endoscopy in gastrointestinal bleeding secondary to angiodysplasias. / Evaluación de la eficacia terapéutica endoscópica en hemorragia digestiva secundaria a angiodisplasias.

INTRODUCTION: Gastrointestinal angiodysplasias are defined as vascular dilations that communicate capillaries and veins in the walls of the digestive tract. The clinical presentation of these lesions varies from chronic occult bleeding to severe gastrointestinal hemorrhage. AIM: The primary aim of our study was to analyze lesion location, the efficacy of therapeutic endoscopy with argon plasma coagulation, and the factors associated with rebleeding in patients with gastrointestinal angiodysplasias. MATERIAL AND METHODS: A retrospective study of 32,042 endoscopies was carried out within the time frame of January 2012 and December 2013 at our hospital center. Gastrointestinal angiodysplasia was the diagnosis in 331 of the endoscopies. The procedures included upper gastrointestinal endoscopy, colonoscopy, sigmoidoscopy, and enteroscopy. RESULTS: The most frequent location of the angiodysplasias was the cecum (49%), followed by the ascending colon (17%) and the sigmoid colon (16%). They were most frequently found in the duodenum (60%) and gastric body (49%) at upper gastrointestinal endoscopy. Therapeutic endoscopy was performed in 163 cases (49.8%) and the most predominant methods were fulguration with argon (90%) and combination treatment (argon plasma coagulation and injection sclerotherapy) (6.7%). The macroscopic rebleeding rate after therapeutic endoscopy was 7.4%. Patients that had rebleeding presented with a lower hemoglobin concentration, higher mean age, and the presence of multiple angiodysplasias at endoscopy (P<.05). CONCLUSIONS: Therapeutic endoscopy was performed in 49.8% of the patients with angiodysplasias. The macroscopic rebleeding rate after treatment was 7.4%. There were statistically significant differences in the patients with rebleeding in relation to mean age, hemoglobin values, and the presence of multiple angiodysplasias.