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At a glance

Genetic condition characterized by recurrent episodes of painful pancreatic attacks, which can progress to chronic pancreatitis. Symptoms include abdominal/epigastric pain, nausea, and vomiting. Onset may begin as early as birth, but most often the attacks typically occur between the first two decades of life. The presentation is associated with chronic pancreatitis, failure of the endocrine and exocrine functions with an increased risk of mortality caused by pancreatic cancer. Lifetime risk of cancer is estimated around 35 to 54% by the age of 75 years. Although there are numerous individuals that choose to have the pancreas surgically removed to prevent pancreatic cancer, a study of 189 patients in 2009 show no increased in mortality following conservative medical treatment. The anesthesia considerations include an increased risk of intra- and postoperative uncontrolled diabetes necessitating the administration of short-acting insulin. Also, a high incidence of nausea and vomiting must be taken into consideration at the time of induction of anesthesia and postoperatively.

Synonyms

Congenital Hereditary Pancreatitis (Familial Pancreatitis; Congenital Pancreatitis)

History

Inherited disorder characterized by relapsing chronic pancreatitis. First described by Comfort and Steinberg in 1952, but it was not until 1996 that Whitcomb isolated the first responsible mutation.

Incidence

It is the most common form of chronic relapsing pancreatitis in childhood. It may account for approximately 25% of adult cases with chronic idiopathic pancreatitis. Equal sex predilection. At least 1,000 individuals in the United States are affected with hereditary pancreatitis. In the United States, it is estimated that at least 1,000 individuals are affected with hereditary pancreatitis.

Genetic inheritance

Autosomal dominant disorder with high penetrance within the family. Hereditary pancreatitis is mainly caused by a mutation of exon 3 of the cationic trypsinogen gene (protease-serine 1 gene, PRSS-1), resulting in an arginine to histidine substitution. Gene map locus is 7q35.

Pathophysiology

Inherited condition characterized by typical symptomatology and laboratory features of pancreatitis. Pancreatitis results from inappropriate activation of pancreatic proenzymes. Active trypsin is normally inhibited by a limited supply of trypsin inhibitor. If trypsin activity exceeds the inhibitory capacity of pancreatic secretory trypsin inhibitor, then proenzymes, including mesotrypsin and enzyme Y, are activated. The activation of these enzymes is postulated to be part of a feedback mechanism for inactivating wild-type trypsinogen, trypsin, and other zymogens. When the Arg117 cleavage site for mesotrypsin, enzyme Y, and trypsin is replaced by histidine, trypsin continues to activate trypsinogen and other zymogens unabated, leading to autodigestion of the pancreas and pancreatitis. Congenital anomalies of the pancreatic duct or biliary duct system may play a role. The histopathologic findings of pancreatitis are related to the release of activated proteolytic and lipolytic enzyme. Interstitial edema and blood vessel disruption (thrombosis in the portal or splenic vein occurs with an inflammatory response) may appear early. ...

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