As there is no specialist help for patients in Wales with chronic hereditary pancreatitis
, her family were forced to travel to Oxford for advice from a top surgeon.
PRSS1 mutation was first discovered to be associated with the phenotype of hereditary pancreatitis
(HP) twenty years ago .
Mutations in this gene have been associated with cystic fibrosis, congenital absence of the vas deferens (CBAVD), hereditary pancreatitis
, and rhinosinusitis.
Other conditions, such as biliary tract disease, alcohol, hypertriglyceridemia, trauma, infections, drugs, and hereditary pancreatitis
, were inconsistent with the clinical and laboratory presentations in our patient.
(6) Hereditary pancreatitis
gives a greatly increased lifetime risk of pancreatic cancer of 30-40% to the age of 70.
has been linked to an increased risk for developing pancreatic cancer.
ANDREW NUTT, Bargoed WHILE the Welsh media huff and puff about the fact that in South Wales heart patients who need urgent specialist treatment and cardiac surgery are now being referred to the NHS and private hospitals in England, here in North Wales specialist treatment and surgery concerning hereditary pancreatitis
and familial pancreatic cancer have always been treated in England - mainly in Liverpool.
Other etiologies include mechanical (post ERCP, trauma), metabolic (hypercalcemia, hypertriglyceridemia, cystic fibrosis, and hereditary pancreatitis
) and toxic (drugs like HCTZ and aspariginase).
Patients with hereditary pancreatitis
, as well as patients with chronic pancreatitis, have an increased risk of PC.
Outcomes of interventional ERCP in hereditary pancreatitis
. Clin Gastroenterol 2010; 44: 46-51.
Medical management of CP should focus on relieving symptoms and preventing the development of complications; aiming to attain cessation of alcohol consumption and cigarette smoking; determining the cause of and relieving abdominal pain (neurolysis has no place in the long-term control of pain in CP); treating pancreatic exocrine insufficiency; early detection and treatment of endocrine insufficiency; nutritional support; and screening for pancreatic adenocarcinoma in cases of hereditary pancreatitis
The present study has evaluated endoscopic ultrasound (EUS) for screening in high-risk individuals: 13 with FAMMM families, 21 with familial pancreatic cancer, three with hereditary pancreatitis
, two with Peutz-Jeghers syndrome, five with BRCA1 and BRCA2 mutations and one Li-Fraumeni syndrome.