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Working together, medical school faculty at the University of North Carolina at Chapel Hill and Duke University have discovered a previously unrecognized cause of pancreatitis, a common ailment often correctly attributed to alcohol or drug abuse but also of mysterious - or “idiopathic” - origin.
The newly discovered culprit has nothing to do with substance use or anatomic abnormalities, the researchers say. Instead, it involves mutations in the gene that causes the highly debilitating disease known as cystic fibrosis.
“We found that the risk of pancreatitis increased about 40-fold in people having two mutations in the gene responsible for cystic fibrosis and increased 20-fold in people having a mutation known as N34S in the pancreatic secretory trypson inhibitor, or PSTI, gene,” said Dr. Peadar G. Noone, assistant professor of medicine at UNC. “When they had mutations in both of these genes, the risk jumped 900-fold.”
The researchers tested tissue from 39 patients with chronic pancreas inflammation and found genetic mutations in 24 of them, including nine with cystic fibrosis gene mutations on both chromosomes and nine with N34S mutations in the PSTI gene, he said.
Thus it appears that carriers - those with only one chromosome affected - of the CF gene mutations are not predisposed to pancreatitis. Otherwise, because between one in 20 to 25 U.S. whites are carriers, the number of patients with it would be staggering - close to 10 million people in this country alone.
“These findings are a message to doctors who specialize in this disease - gastroenterologists primarily, but also generalist physicians who might see people with idiopathic pancreatitis - that they should really consider looking for mutations in genes encoding for CF in patients with other symptoms,” Noone said. “Often physicians or relatives of people with pancreatitis of unknown origin suspect they are abusing alcohol or drugs when really they are not. It’s always useful to be able to tell patients what’s causing their disease.”
MEDICA.de; Source: University of North Carolina at Chapel Hill