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Introduction: Familial adenomatous polyposis (FAP), a hereditary disorder of the gastrointestinal tract, is an autosomal dominant inherited condition caused by germline mutations in the adenomatous polyposis coli (APC) gene. It is characterized by the development of hundreds to thousands of colorectal adenomatous polyps, which, if left untreated, can eventually develop into colorectal carcinomas. Representative extracolonic tumors in FAP include multiple duodenal adenomas and desmoid tumors. Moreover, multiple fundic gland polyps are frequently identified in the stomachs of patients with FAP. Case Presentation: Herein, we report the two cases. A 52-year-old woman who underwent total colectomy for FAP, and pancreatoduodenectomy was initiated on esomeprazole for the treatment of anastomotic erosion. Esophagogastroduodenoscopy performed 42 months later showed an increased number and size of gastric fundic gland polyps, which subsequently decreased after replacing esomeprazole with ranitidine. Similarly, a 39-year-old woman with FAP was initiated on vonoprazan for the treatment of reflux symptoms. Esophagogastroduodenoscopy and colonoscopy performed 14 months later indicated an increase in the number of gastric fundic gland polyps and colorectal polyps, which subsequently decreased after vonoprazan discontinuation. In these two cases, the increase and decrease in the number and size of fundic gland polyps and colon adenoma were associated with serum gastrin levels. Conclusion: Gastric fundic gland polyps and colon polyps may rapidly increase in number and size due to increased gastrin levels induced by proton pump inhibitor/potassium-competitive acid blocker use. Hence, these drugs should be prescribed with caution.
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OBJECTIVE: Prevalence of colonoscopy (CS) is an important countermeasure against colorectal cancer (CRC). In this study, we used large-scale data for a comparison of CS with esophagogastroduodenoscopy (EGD) in Japan. METHODS: This was a retrospective descriptive study. Commercially anonymized patient data were collected from various health insurance societies (JMDC, Inc. Tokyo, Japan) generated from the insurance registry, receipts (inpatient, outpatient, and prescription), and health checkup data. The data also included healthy subjects who had never been examined in a hospital. The data of 2,760,048 persons who were 50-75 years old during January 2012-December 2019 were extracted from the original data source. The annual rate, the prevalence rate (frequency of those undergoing at least one endoscopy during the period), and the percentage of repeaters (undergoing endoscopy at least twice during the period) of CS were calculated and compared to those of EGD. RESULTS: The annual rates in 2012/2015/2019 were 3.4%/4.5%/5.3% for CS, respectively, and increased gradually from 2012 to 2019. Those rates were 7.0%/7.9%/7.4% for EGD, respectively, and did not increase. The prevalence rates of CS and EGD were 25.3% and 36.2%, respectively, among the 137,246 participants over 8 years. The prevalence rates of individuals in their 50 s/60 s/70 s were 23.0%/25.9%/31.4% for CS and 33.0%/37.6%/40.7% for EGD, respectively. The proportions of males/females were 27.9%/20.7% for CS, and 36.4%/35.8% for EGD, respectively. The repeat rates of CS and EGD were 40.3% and 44.8%, respectively, over 8 years. CONCLUSIONS: Using large-scale data, we determined the status of CS and EGD in Japan.
Assuntos
Colonoscopia , Neoplasias Colorretais , Endoscopia do Sistema Digestório , Humanos , Pessoa de Meia-Idade , Japão/epidemiologia , Masculino , Colonoscopia/estatística & dados numéricos , Colonoscopia/métodos , Feminino , Endoscopia do Sistema Digestório/métodos , Endoscopia do Sistema Digestório/estatística & dados numéricos , Estudos Retrospectivos , Idoso , Prevalência , Neoplasias Colorretais/epidemiologia , Neoplasias Colorretais/diagnósticoRESUMO
Juvenile polyposis syndrome (JPS) is a rare disease characterized by multiple hamartomatous polyps within the gastrointestinal tract. SMAD4 or BMPR1A is known as a causative gene of JPS. Approximately 75% of newly diagnosed cases have an autosomal-dominantly inherited condition, whereas 25% are sporadic without previous history of polyposis in the family pedigree. Some patients with JPS develop gastrointestinal lesions in childhood and require continuous medical care until adulthood. JPS is classified into three categories according to phenotypic features of polyp distributions, including generalized juvenile polyposis, juvenile polyposis coli, and juvenile polyposis of the stomach. Juvenile polyposis of the stomach is caused by germline pathogenic variants of SMAD4 with a high risk leading to gastric cancer. Pathogenic variants of SMAD4 are also associated with hereditary hemorrhagic telangiectasia-JPS complex, inducing regular cardiovascular survey. Despite growing concerns regarding the managing JPS in Japan, there are no practical guidelines. To address this situation, the guideline committee was organized by the Research Group on Rare and Intractable Diseases granted by the Ministry of Health, Labor and Welfare involving specialists from multiple academic societies. The present clinical guidelines explain the principles in the diagnosis and management of JPS with three clinical questions and corresponding recommendations based on a careful review of the evidence and involve incorporating the concept of the Grading of Recommendations, Assessment, Development, and Evaluation system. Herein, we present the clinical practice guidelines of JPS to promote seamless implementation of accurate diagnosis and appropriate management of pediatric, adolescent, and adult patients with JPS.