A Novel Phosphoinositide-3-kinase Adapter Protein 1 Gene Missense Mutation in Familial Cirrhosis.

Familial cirrhosis is a condition that is associated with the presence of liver disease with genetic linkage among multiple family members in a generation or in multiple generations. With cirrhosis, most of these disease pathogeneses are related to a defect of an enzyme/transport protein leading to a deranged metabolic pathway with variable prevalence. Many studies and high-quality metanalyses have shed light on genetic linkage associated with nonalcoholic fatty liver disease and steatohepatitis such as the PNPLA3, MBOAT7, and TM6SF2 variants. In this report, we shed light on a novel missense mutation associated with cirrhosis in a family of brothers associated with phosphoinositide-3-kinase adapter protein 1 gene through high-output whole exosome gene sequencing methodology.

Oesophageal and gastric varices: historical aspects, classification and grading: everything in one place.

Variceal disease and its management are of the utmost importance in the treatment of portal hypertension. Current guidelines are universal for management of variceal disease in portal hypertension. Classification and grading systems are numerous and differ according to geographical location. In this exhaustive review, the historical aspects of variceal disease, its classification and the grading systems in use are discussed, with self-explanatory tables and timelines. A better and clear understanding of the evolution of portal hypertension and variceal disease is provided.