[Hereditary pancreatitis].
Hereditary pancreatitis (HP) is a disease which has been discovered quite recently. The inheritance is autosomally dominant with 80% penetrance. It gives the same symptoms as acute pancreatitis in early childhood and ends up with chronic pancreatitis. In 60% of the patients, a mutation in the trypsinogen gene can be demonstrated. The remaining 40% of the HP patients are diagnosed on the basis of clinical criteria. The acute and the chronic pancreatitis are treated as usual. It is important to recognize the disease because patients with HP have a 50 times increased risk of developing pancreatic cancer. At the age of 70, 40% have developed pancreatic cancer. This risk doubles for cigarette smokers. Screening programmes for HP in order to prevent pancreatic cancer are, however, expensive and troublesome.
Jørgensen
Maiken Thyregod
MT
Odense Universitetshospital, Medicinsk Gastroenterologisk Afdeling S.
Schaffalitzky de Muckadell
Ove B
OB
D000208:Acute Disease; D000328:Adult; D000368:Aged; D002648:Child; D002908:Chronic Disease; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing; D006801:Humans; D009154:Mutation; D010190:Pancreatic Neoplasms / Q000209:etiology / Q000235:genetics; D010195:Pancreatitis / Q000150:complications / Q000235:genetics*; D012307:Risk Factors; D014357:Trypsin / Q000235:genetics; D014362:Trypsinogen / Q000235:genetics
D014362:Trypsinogen; D014357:Trypsin