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Thursday, January 31, 2008

Hereditary Pancreatitis

About Hereditary Pancreatitis

Hereditary Pancreatitis is a rare inherited condition characterized by recurrent episodes of acute pancreatitis attacks. In about half of these cases the problem progresses to chronic pancreatitis, which is severe scarring of the pancreas. Laboratory tests performed during an attack usually detect high blood levels of amylase and lipase, which are enzymes released from the pancreas. The first attack typically occurs within the first two decades of life, but can begin at any age. In the United States, it is estimated that at least 1,000 individuals are affected with hereditary pancreatitis.
Patients with hereditary pancreatitis may have chronic abdominal pain, diarrhea, nausea, vomiting, malnutrition, or diabetes.
The diagnosis of hereditary pancreatitis by genetic testing can be a valuable tool. Hereditary pancreatitis is a progressive disease with a high risk of permanent problems.
Hereditary Pancreatitis is a genetic disorder, which means that it is usually passed from one generation to the next.
The symptoms of Hereditary Pancreatitis are caused by a change to a specific gene. Genes are the packages of information that control how our bodies look and function. A single gene appears to be involved in 60-75% of hereditary pancreatitis families. This gene produces the "cationic trypsinogen" enzyme, which breaks down the proteins present in the foods we eat. (In some research papers cationic trypsinogen is called PRSS1).
When a change to a gene occurs, the gene may no longer function properly. These gene changes are called mutations. Currently, there are two common, and more than 6 uncommon cationic trypsinogen gene mutations that are associated with hereditary pancreatitis. The major mutations are known as cationic trypsinogen "R122H", "N29I".
Families with Hereditary Pancreatitis might carry one of these mutations, but usually not more than one type of mutation. It is also possible that a family with a strong history of Hereditary Pancreatitis may not carry any of the currently known mutations. For this reason, it is believed that additional genes and mutations that cause Hereditary Pancreatitis are awaiting discovery.
Hereditary Pancreatitis has also been linked to an increased lifetime risk of pancreatic cancer. Pancreatic cancer is the 4th most leading cause of cancer deaths among Americans.
The treatment for hereditary pancreatitis depends on the symptoms. However, the primary treatment focuses on pain control and pancreatic enzyme replacement. Surgery may be indicated to improve symptoms. Removal of the entire pancreas can be performed to eliminate the source of the problem, however in most cases this results in permanent insulin-dependent diabetes.
As with any chronic disease, the effects may last for months or years. Follow your physician's suggested diet, prescribed medications, and other medical orders.

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