Hereditary PancreatitisSymptoms, Doctors, Treatments, Advances & More
Learn About Hereditary Pancreatitis
Hereditary pancreatitis is a genetic condition characterized by recurrent episodes of inflammation of the pancreas (pancreatitis). The pancreas produces enzymes that help digest food, and it also produces insulin, a hormone that controls levels of blood glucose, also called blood sugar. Episodes of pancreatitis can lead to permanent tissue damage and loss of pancreatic function.
Mutations in the PRSS1 gene cause most cases of hereditary pancreatitis. The PRSS1 gene provides instructions for making an enzyme called cationic trypsinogen. This enzyme is produced in the pancreas and helps with the digestion of food. When cationic trypsinogen is needed, it is released (secreted) from the pancreas and transported to the small intestine, where it is cut (cleaved) into its working or active form called trypsin. When digestion is complete and trypsin is no longer needed, the enzyme is broken down.
Hereditary pancreatitis is thought to be a rare condition. In Europe, its prevalence is estimated to be 3 to 6 per million individuals.
When hereditary pancreatitis is caused by mutations in the PRSS1 gene, it is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In some cases, an affected person inherits the PRSS1 gene mutation from one affected parent. Other cases result from new mutations in the gene and occur in people with no history of the disorder in their family.
Johns Hopkins Health Care & Surgery Center - Green Spring Station, Lutherville
Vikesh Singh is a gastroenterologist who specializes in pancreatology and pancreaticobiliary endoscopy. He evaluates and treats patients with inflammatory diseases of the pancreas, including acute and chronic pancreatitis and autoimmune pancreatitis as well as the complications of these diseases. After earning his medical degree from the Johns Hopkins University School of Medicine, Dr. Singh remained at Johns Hopkins to complete residency training in internal medicine. He pursued fellowship training in gastroenterology at Brigham and Women’s Hospital, and earned a master’s degree in epidemiology from the Harvard T. H. Chan School of Public Health. He then returned to Johns Hopkins, where he completed a two-year advanced endoscopy fellowship with a focus on pancreaticobiliary endoscopy. Dr. Singh has been on the faculty at Johns Hopkins since 2008, and rose to the rank of professor in 2021. His research interests include acute and chronic pancreatitis, autoimmune pancreatitis, exocrine pancreatic insufficiency, and novel methods to evaluate and treat abdominal pain. Dr. Singh is a member of the board of directors of the National Pancreas Foundation, chair of the Pancreatic Disorders Section of the American Gastroenterological Association, a councilor for the International Association of Pancreatology and a member of the inaugural medical advisory board for the Familial Chylomicronemia Syndrome Foundation. Dr. Singh is rated as an Elite provider by MediFind in the treatment of Hereditary Pancreatitis. His top areas of expertise are Exocrine Pancreatic Insufficiency, Hereditary Pancreatitis, Acute Pancreatitis, Pancreatectomy, and Endoscopy.
BIDMC - Division Of Gastroenterology/GI East
Steven Freedman is an Internal Medicine provider in Boston, Massachusetts. Dr. Freedman is rated as an Elite provider by MediFind in the treatment of Hereditary Pancreatitis. His top areas of expertise are Exocrine Pancreatic Insufficiency, Hereditary Pancreatitis, Chronic Pancreatitis, Pancreatectomy, and Pancreaticoduodenectomy.
Johns Hopkins Bayview Medical Center
Dr. Akshintala received his medical degree from the Andhra Medical College in India in 2011. Following this, he completed a post-doctoral research fellowship in Gastroenterology at Johns Hopkins Hospital where he established himself as a dedicated researcher. Dr. Akshintala completed his internship and residency training in Internal Medicine at the University of Pittsburgh Medical Center in 2016. He completed his fellowship in Gastroenterology at Johns Hopkins Hospital in 2019. Dr. Akshintala then completed additional fellowships in Advanced Endoscopy and Medical Pancreatology at the Johns Hopkins Hospital in 2021. As of July 1, 2021, Dr. Akshintala is an Assistant Professor of Medicine in the Division of Gastroenterology at Johns Hopkins Hospital. Dr. Akshintala’s research is focused on the medical as well as endoscopic evaluation and treatment of inflammatory disorders of the pancreas. He is also interested in developing new devices and technologies for the care of patients with gastrointestinal disorders. Dr. Akshintala has conducted multi-national randomized-controlled trials and has won numerous awards at major national and international conferences for his research. He also has authored more than 60 original articles, editorials, book chapters and review articles. Dr. Akshintala has received grant funding from the American Society for Gastrointestinal Endoscopy (ASGE) and the Maryland State to support his research. As an innovator, Dr. Akshintala has patented new therapies for gastrointestinal bleeding and pancreas necrosis, a complication of acute pancreatitis. An internationally recognized researcher conducting multi-national clinical trials, Dr. Akshintala holds an Adjunct Assistant Professor position at the Asian Institute of Gastroenterology in India, one of the largest gastroenterology hospitals in the world. Dr. Akshintala is a Ph.D. candidate with the Dutch Pancreatitis Study Group in the Netherlands, who have been pioneered landmark clinical trials related to pancreatitis. Dr. Akshintala offers in-person clinic visits at the Baltimore location and also provides telemedicine visits for patients located in Maryland, Washington, D.C. and Virginia. Dr. Akshintala is rated as an Elite provider by MediFind in the treatment of Hereditary Pancreatitis. His top areas of expertise are Hereditary Pancreatitis, Acute Pancreatitis, Chronic Pancreatitis, Endoscopy, and Lithotripsy.
Summary: The DREAM-ON study will investigate whether continuous glucose monitoring (CGM) is useful to predict risk for developing diabetes mellitus (DM) and pre-diabetes mellitus (PDM), the need for insulin therapy among those who develop DM, and to determine whether CGM can provide insight into the pathophysiology and DM subtype among participants who have experienced an episode of acute pancreatitis (AP)...
Summary: Pancreatic necrosis complicates approximately 20-30% of severe acute pancreatitis cases. While many collections resolve without intervention, persistent symptomatic collections-particularly when infected-are associated with significant morbidity and mortality and frequently require procedural management. Current guidelines recommend delaying intervention until collections are fully walled off, typ...
Published Date: October 01, 2012
Published By: National Institutes of Health