Gene Uncorks Pancreatitis in Heavy Drinkers

Pancreatitis more likely among heavy drinkers with particular gene mutation

/ Author:  / Reviewed by: Joseph V. Madia, MD

(RxWiki News) Excessive drinking has been linked to chronic pancreatitis, but only a fraction of alcoholics get the disease. A gene mutation can identify men who are at highest risk.

A new study found a common genetic variation among half of the men diagnosed with alcoholic pancreatitis.

This marker can help doctors identify which men are most prone to this disease. Earlier diagnosis will help patients maintain better pancreatic health.

"Speak with a therapist if you are concerned about your drinking."

David Whitcomb, MD, professor of medicine, cell biology and physiology and human genetics at the University of Pittsburgh School of Medicine, teamed up with investigators at 25 health centers from across the country to examine DNA data on more than 2,000 patients.

Chronic pancreatitis afflicts more than 100,000 Americans. It is a progressive inflammatory disease characterized by abdominal pain and permanent damage to the pancreas. Prior studies have shown that heavy drinking can lead to chronic pancreatitis in some people.

Alcohol is thought to hurt the pancreas by decreasing the amount of digestive enzymes it releases. Heavy drinking causes the pancreas to secrete the enzymes inside itself, rather than sending them to the small intestine. The enzymes then attack the pancreas and cause inflammation.

Dr. Whitcomb reports that only three percent of alcoholics develop chronic pancreatitis.

“People with the disease are often drinkers,” said Dr. Whitcomb, “but drinkers don’t often get the disease. There had to be another factor. It’s not just drinking that causes pancreatitis or more people would have it.”

In this 10-year study, researchers discovered a common DNA variant on the X chromosome in 26 percent of men who did not have pancreatitis, but that number jumped to nearly 50 percent of men diagnosed with alcoholic pancreatitis. The variant on the X chromosome does not cause pancreatitis but increases the risk of developing the disease.

The discovery of this new genetic variant on chromosome X helps explain the higher number of men affected. Women have two X chromosomes. Most women with the high-risk DNA variant on one X chromosome appear to be protected from alcoholic chronic pancreatitis by the other X chromosome, if it is normal.

Dr. Whitcomb told the dailyRx News, “If you have this gene factor, it looks like you get an episode and then the inflammation never shuts off. It keeps smoldering and running until your pancreas is destroyed. In alcoholics who have this genetic factor, the condition gets worse until the pancreas is irreversibly damaged. The genetic factor tells the doctor that there has to be an immediate intervention for the pancreas to have a chance of healing.”

“The discovery that chronic pancreatitis has a genetic basis solves a major mystery about why some people develop chronic pancreatitis and others do not,” said Dr. Whitcomb.

Gastroenterologist Maxwell M. Chait, MD, FACP (Fellow of the American College of Physicians), who was not involved in this study, told dailyRx, “Heavy drinking patients with this gene variant could then receive more aggressive counseling. They can also receive treatment to reduce alcohol use or early treatment of acute pancreatitis to slow the development of the disease. This is an exciting concept, but the implementation of genetic testing with this is a long way off since the testing for this gene is complex and the concept will require more research for confirmation.”

The gene test is not available yet, but the University of Pittsburgh has a provisional patent on doing the testing. This study was published online in November in Nature Genetics.

Reviewed by: 
Review Date: 
November 20, 2012
Last Updated:
December 30, 2013