Pancreatitis Linked to Gene That Causes Cystic Fibrosis

The genetic defect that causes cystic fibrosis also appears to be involved in a life-threatening inflammation of the pancreas that afflicts about 100,000 Americans. Two studies in today’s New England Journal of Medicine provide the first solid evidence that chronic pancreatitis may be linked to a bad gene.

Researchers estimate that the cystic fibrosis gene may play a role in about 10% to 15% of these cases, even though victims show no signs of cystic fibrosis. By far the leading cause of pancreatitis is alcohol abuse. But in about 30% of cases, there has been no clear cause. The new work suggests that between one-third and one-half of the unexplained cases may be triggered at least in part by the cystic fibrosis gene.

Cystic fibrosis occurs when a person has two defective copies of a gene called CFTR, one from each parent. The new results suggest that having one defective copy increases the risk of chronic pancreatitis.