Andalusian Registry for familial adenomatous polyposis. Analysis of patients included.

OBJECTIVE: To evaluate the phenotype and genotype characteristic of patients included in the Andalusian Registry for familial adenomatous polyposis, the genotype/phenotype correlation and the impact of Registry in the frequency of colorectal cancer of registered. MATERIAL AND METHODS: A descriptive study of 77 patients with FAP belonging to 33 families, included in a centralized database visited by the physicians of the hospitals taking part in the present study, on prior signing of confidentiality letters. All genetic studies were carried out in the Immunology Service of our institution. RESULTS: We have included in our study 77 patients of 33 families; 31 probands with a mean age of 32 years (13-51) and 46 relatives at risk with a mean age of 21.8 years (6-55). Genetic study informed in 68/77 with positive result in 92.6%. Ten probands showed colorectal cancer (CRC) at the time of diagnosis (32.2%). Only two affected relatives showed CRC at diagnosis (4.3%), a statistically significant difference (p < 0.05). Gastrointestinal involvement was observed in 30/61 (49%), desmoid tumors in 7/77 (9.1%) and congenital hypertrophy of the retinal pigment epithelium in 23/55 (65.7%). 86.7% of patients with this alteration showed mutations between codons 454 and 1019, with a statistically significant correlation ((p < 0.05). CONCLUSIONS: The registry has facilitated the genetic diagnosis for all affected families disregard their province of origin. It has also improved the screening of affected relatives and has made it possible to take preventive measures immediately, therefore diminishing the incidence of CRC at diagnosis in registered affected relatives. The correlation between congenital hypertrophy of the retinal pigment epithelium with some mutations is the only phenotypic-genotypic correlation with statistical significance.

[Spontaneous intramural dissection of the esophagus]. / Perforación intramural espontánea del esófago.

Spontaneous intramural dissection of the esophagus (SIDE) is an unusual clinical entity. It is a benign disease that, despite its alarming endoscopic appearance, usually responds well to conservative management and has an excellent prognosis. Nevertheless, some situations require emergency surgical treatment. These situations include esophageal perforation with mediastinitis, massive bleeding, and abscess, among others. Upper gastrointestinal endoscopy is a useful diagnostic test when radiological examinations (hydrosoluble contrast esophagogram, computed tomography, or magnetic resonance imaging) have excluded perforation. We present the case of a 42-year-old woman who was admitted to our hospital complaining of acute chest pain, dysphagia, and odynophagia. Because of the persistence of symptoms and diagnostic uncertainty (SIDE versus complicated esophageal duplication cyst) surgery was performed. The definitive diagnosis was SIDE.

Perforación intramural espontánea del esófago / Spontaneous intramural dissection of the esophagus

La perforación intramural espontánea del esófago (PIEE) es un trastorno esofágico raro. Es una enfermedad benigna, que a pesar del aspecto endoscópico tan alarmante, tiene una buena respuesta al tratamiento conservador y un pronóstico excelente. Sin embargo, algunas situaciones requieren un tratamiento quirúrgico urgente: perforación con mediastinitis, sangrado masivo o absceso entre otras. La gastroscopia es una prueba fundamental para el diagnóstico, una vez garantizada la indemnidad del esófago mediante pruebas radiológicas (esofagograma con contraste hidrosoluble, tomografía computarizada, resonancia magnética). Exponemos el caso de una mujer de 42 años de edad, con dolor torácico agudo, disfagia y odinofagia, que sometemos a estudio radiológico y endoscópico. Ante la persistencia de la clínica y la duda diagnóstica (perforación esofágica transmural frente a quiste de duplicación esofágico complicado), se decide intervenir quirúrgicamente. El diagnóstico final fue de PIEE

Spontaneous intramural dissection of the esophagus (SIDE) is an unusual clinical entity. It is a benign disease that, despite its alarming endoscopic appearance, usually responds well to conservative management and has an excellent prognosis. Nevertheless, some situations require emergency surgical treatment. These situations include esophageal perforation with mediastinitis, massive bleeding, and abscess, among others. Upper gastrointestinal endoscopy is a useful diagnostic test when radiological examinations (hydrosoluble contrast esophagogram, computed tomography, or magnetic resonance imaging) have excluded perforation. We present the case of a 42-year-old woman who was admitted to our hospital complaining of acute chest pain, dysphagia, and odynophagia. Because of the persistence of symptoms and diagnostic uncertainty (SIDE versus complicated esophageal duplication cyst) surgery was performed. The definitive diagnosis was SIDE

[Duodenal perforation due to an endoscopic biliary prosthesis]. / Perforación duodenal por prótesis biliar endoscópica.

Endoscopic biliary drainage through endoscopic retrograde cholangiopancreatography (ERCP) is a widely accepted therapeutic option in malignant biliary obstructions. However, the procedure is not free of complications. Perforation is one possible complication although it is much less frequent (less than 1%) than pancreatitis (5.4%) or hemorrhage (2%). We present 2 cases of duodenal perforation after placement of a biliary prosthesis through ERCP. Both patients had extensive hilar cholangiocarcinoma. Onset of symptoms of perforation occurred a few hours after placement of the prosthesis and the diagnosis was confirmed by computed tomography and laparotomy. We believe that the mechanism through which perforation occurred was proximal adhesion of the prosthesis to the tumor. This increased the intensity of distal trauma produced by the intraduodenal segment, preventing adaptation of the prosthesis to intestinal peristalsis. A good preventive measure would consist of correctly adjusting the length of the prosthesis in relation to the proximal end of the biliary stenosis.

Biliopancreatic tumors: patient survival and quality of life after palliative treatment.

OBJECTIVES: to analyse survival and quality of life of patients with malignant obstructive jaundice after palliative treatment, comparing endoscopic stent insertion and palliative surgical (palliative resection and bypass surgical). PATIENTS AND METHOD: eighty and seven patients were included in a trial. They were distributed to endoscopic stent (50) and palliative surgical (37). It analysed survival, quality of life and comfort index of jaundiced patients. The good quality of life was defined by absence of jaundice, pruritus and cholangitis after the initial treatment. RESULTS: the median survival of the patients treated to endoscopic stent was 9,6 months whereas the patients to surgical treatment survived a median of 17 months. The time free of disease was 4 months in stented patients and 10,5 months in surgical patients. There was no significant difference in comfort index between the two groups (stented 34%, surgical 42,5%) Neither was there significant difference in survival and quality of life between palliative resection and bypass surgery. CONCLUSIONS: despite the survival and time free of disease being better in surgical patients, there was no significant difference in overall quality of life between the two groups. The survival and quality of life are the same after palliative resection as after bypass surgery, for this should not be performed routinely or to justify resection as a debulking procedure.

[Factors associated with failure of endoscopic therapy in gastric ulcer bleeding]. / Factores asociados al fracaso de la terapéutica endoscópica en la hemorragia digestiva por úlcera gástrica.

INTRODUCTION: Endoscopic therapy is an effective technique in the control of bleeding due to peptic ulcer. However, bleeding persists or recurs in as many as 10-30% of patients. Gastric and duodenal ulcers present different clinical and endoscopic features and consequently the efficacy of endoscopic therapy and the factors associated with its failure should be studied separately. OBJECTIVES: To analyze the efficacy of endoscopic therapy in patients at high risk of persistent or recurrent bleeding due to gastric ulcer and to identify the factors associated with the failure of this technique. PATIENTS AND METHODS: We performed a retrospective study based on a clinical intervention protocol. Two hundred eight patients admitted for bleeding secondary to gastric ulcer with active bleeding or stigmas of recent bleeding who received endoscopic therapy between January 1992 and December 2001 were analyzed. Clinical, laboratory and endoscopic variables on admission, as well as the medical treatment and endoscopic procedure applied, were registered. Endoscopy was performed within 12 hours of admission. Patients were classified according to their response to endoscopic therapy: a) patients with limited bleeding, and b) patients with persistent or recurrent bleeding due to therapeutic failure. Intervention in patients with therapeutic failure was performed according to a previously established protocol. Variables that were statistically significant in the univariate analysis were included in a logistic regression model to identify those with an independent predictive value for failure of endoscopic therapy. RESULTS: Definitive hemostasis was achieved after initial therapy in 181 patients (87%). The efficacy of a second procedure increased the percentage of hemostasis to 91% of the patients. In the logistic regression model, the only variables that were independently associated with initial therapeutic failure were: hemodynamic status on admission (p = 0.016; OR = 3.99), the need for transfusion of blood products prior to endoscopy (p = 0.025; OR = 3.48), upper localization of the gastric ulcer (p = 0.050; OR = 3.08) and unsatisfactory endoscopic therapy (p = 0.009; OR = 17.39). CONCLUSION: These variables could contribute to the early identification of a subgroup of patients, which would enable us to increase medical-surgical surveillance and offer them other therapeutic alternatives.

[Endoscopic dilatation of caustic esophageal strictures]. / Tratamiento mediante dilatación endoscópica de las estenosis esofágicas cáusticas.

OBJECTIVE: To evaluate the results of endoscopic dilatation in caustic esophageal strictures and to analyze the factors associated with a favorable response. PATIENTS AND METHOD: We performed a retrospective study of 33 patients who underwent dilatation with Savary bougie between 1989 and 2001. Response to initial dilatation and outcome during follow-up were analyzed. RESULTS: The mean age was 50 years (8-83) and 58% were women. Intake was accidental in 29 (88%). In all patients, the caustic substance ingested was alkali. Dilatation was started in the acute phase in 12 patients (36%) and 13 presented inflammatory phenomena adjacent to the stenosis. During initial dilatation, 2 1.6 sessions (2-18) were performed and a favorable response was obtained in 18 patients (54%). At the end of follow-up, 68% of the patients presented satisfactory health status. The comparative study revealed that statistically significant variables for a favorable response to treatment were: accidental alkali intake, instauration of treatment in the chronic phase, absence of inflammatory phenomena, and a small number of initial dilatation sessions. CONCLUSIONS: In our series, more than half the patients with esophageal stenosis due to intake of corrosive alkalis showed a favorable initial response. In these patients with acute-phase stenosis who required a greater number of initial dilatation sessions, endoscopic therapy was less effective.

[Evaluation of the efficacy of the endoscopic treatment in volvulus of the colon]. / Evaluación de la eficacia del tratamiento endoscópico en el vólvulo de colon.

Volvulus of the colon mainly affects the elderly and early surgery, with high morbidity and mortality, is often required. The efficacy of endoscopic devolvulization as an alternative is evaluated herein. From January 1993 to April 1999, 25 patients diagnosed with volvulus of the colon were retrospectively reviewed. Endoscopic devolvulization was not performed in one patient who showed signs of necrosis but was carried out in the remaining 24. The mean follow-up was 35.3 months. In all patients the procedure was initially effective. After the first attempt, 9 of the 24 patients (37%) relapsed, 4 out of 7 (57%) after a second attempt and 2 out of 2 (100%) after a third attempt. No morbidity or mortality was associated with the endoscopy. Six patients underwent surgery. Of these, none relapsed but two presented complications associated with the surgery. Mean hospital stay of the patients undergoing surgery was 30.8 days and that of those undergoing endoscopic devolvulization was 9.1 days. We conclude that endoscopic devolvulizatio is an effective therapeutic option when the mucosa is viable, with a high percentage of initial success, few complications inherent to the technique and with the possibility of carrying out a maximum of two attempts in cases of relapse. In the majority of patients, this technique is a valid alternative to urgent surgery, which has higher morbidity and mortality and longer mean hospital stay.

[Endoscopic drainage with polyethylene endoprosthesis of malignant obstructive jaundice]. / Drenaje endoscópico mediante prótesis de polietileno de la ictericia obstructiva maligna.

AIM: To evaluate the efficacy and complications of endoscopic drainage of malignant obstructive jaundice with plastic endoprosthesis as well as to identify possible factors related with occlusion. PATIENTS AND METHODS: One-hundred and forty patients with malignant obstructive jaundice were retrospectively evaluated. The site of obstruction was proximal in 35 patients (25.0%), distal in 64 (45.7) and ampullary in 41 (29.3). Amsterdam or pigtail polyethylene prostheses of variable caliber and length were used. Drainage was preoperative in 41 patients and palliative in 99. Seventy-seven patients who underwent with palliative drainage were followed up long-term. RESULTS: Drainage was satisfactory in 132 patients (94.2%). Early morbidity was 10.7% (14/140) and early mortality related with the technique was 5% (7/140). Time free of obstruction was 4.6 +/- 1.0 months and in 47/77 (60%) the prostheses were still working at the end of follow-up. The actuarial rate of obstruction at 6 months was 42%, the majority (61%) occurring in the first 3 months. The median survival was 5.9 +/- 1.3 months. Of all the factors analyzed, greater permeability was found only in the ampullary tumors (p < 0.01) and in prostheses of caliber equal or superior to 10 French (p < 0.01). CONCLUSIONS: Endoscopic biliary drainage using plastic prostheses is satisfactory in the majority of patients with malignant jaundice. It has a low complication rate and provides acceptable palliation: the majority of patients do not require prostheses to be replaced and, when they becomes clogged, substitution usually solves the problem. Ampullary tumors and prostheses of higher caliber (> or = 10F) have been associated with greater permeability.

[Prevention of recurrence of acute biliary pancreatitis by endoscopic sphincterotomy]. / Prevención de la recidiva de la pancreatitis aguda biliar mediante esfinterotomía endoscópica.

The aim of this study was to know if endoscopic sphincterectomy could be an alternative to cholecystectomy in high surgical risk patients that have suffered acute biliary pancreatitis. Between January 1992 to December 1995 endoscopic sphincterectomy was carried out in 52 high surgical risk patients who had suffered an episode of acute biliary pancreatitis. The lithiasic gallbladder was not removed. The mean age was 75.6 years (35-91). After a follow up of 15.9 months (1-46.5), no patient suffered from a new episode of acute pancreatitis. Six patients (12%) required cholecystectomy due to complications derived from the lithiasic gallbladder. Endoscopic sphincterectomy is an effective alternative to cholecystectomy in the prevention of new episodes of acute biliary pancreatitis in patients with lithiasic gallbladder and high surgical risk. The complications of the lithiasic gallbladder in situ after endoscopic sphincterectomy are relatively infrequent.