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Alfa 1-antitrypsin deficiency is one of the most prevalent genetic diseases in the human being, sadly it is not a commonly suspected clinical entity. With more than 100 known mutations, those associated with hepatic disease are the Z homocygote allele mutations in the gene a1AT which occur in every 2000-3500 births. Opposing to the pulmonary disease, in which de sequelae are caused by the deficit of this protein which in turn fastens the enzymatic destruction of the airway microstructure, the hepatic compromise is secondary to the intracellular accumulation of the aberrant misfolded protein. This accumulation causes cellular damage, hepatitis, fibrosis, cirrhosis and hepatocellular carcinoma through activation of a series of mechanisms which culminate in hepatocitary apoptosis, regeneration and chronic cellular injury.9 cases of confirmed a1AT deficiency are presented, from different ages ranging from adolescence through elderly patients.Each of one of them with different clinical presentation going from asymptomatic liver enzyme elevations to transplanted cirrhosis in which the diagnosis was post procedural.We comment about the management of the chronic liver disease and the evolution of these patients through time in the liver clinic.

Aims Most patients with familial adenomatous polyposis (FAP) develop gastric fundic gland polyps, with many displaying low-grade dysplasia. This study evaluates the natural history and morphological phenotype of dysplasia in FAP-associated fundic gland polyps. Methods and results Patients with FAP and dysplastic fundic gland polyps (n = 24) were identified. Twenty-two of 24 FAP-associated dysplastic fundic gland polyps showed a gastric phenotype and two had mixed phenotype. During a mean 6.1-year follow-up (range 0.8–12.6 years) and 5.7 endoscopies (range 2–22), one patient (4%) was diagnosed with a fundic gland polyp with high-grade dysplasia, while 23 patients (96%) in this cohort had either no dysplasia or persistent low-grade dysplasia. Contemporary patients with sporadic fundic gland polyps with low-grade dyplasia had similar morphology and outcomes to the FAP-associated fundic gland polyp cohort. Dysplasia in fundic gland polyps (FAP-associated and sporadic) was associated less frequently with intestinal phenotype, high-grade dysplasia and the finding of concurrent or subsequent carcinoma compared to contemporary patients with sporadic gastric dysplasia not occurring in fundic gland polyps. Conclusions This cohort of patients with FAP-associated dysplastic fundic gland polyps rarely developed high-grade dysplasia and gastric adenocarcinoma was absent.

Early gastric neoplasia, which includes dysplasia and adenocarcinoma invading no more than the submucosa have been the subject of numerous studies in recent years. For example, different dysplastic phenotypes have been identified, in addition to the traditional adenomatous type, foveolar, pyloric, and tubule-neck dysplasia (associated with diffuse type carcinoma) have been recognized. Each subtype of dysplasia shows a different immunohistochemical profile, and may vary in their risk of progression to adenocarcinoma. With regard to early gastric cancer the emergence of better diagnostic techniques allowed the development of endoscopic techniques such as endoscopic mucosal resection and endoscopic submucosal resection that nowadays allow optimal nonsurgical management. The purpose of this review is to discuss the current concepts in gastric dysplasia and early gastric cancer as they relate to diagnosis and management.