Hereditary pancreatitis (patient information)

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-In-Chief: Jinhui Wu, M.D.

Overview

Hereditary pancreatitis is a rare genetic condition characterized by recurrent episodes of pancreatic attacks, which can progress to chronic pancreatitis. Studies demonstrate that mutations of cationic trypsinogen gene "R122H" and "N29I" are associated with hereditary pancreatitis. Usual symptoms include abdominal pain, nausea and vomiting, weight loss, malnutrition and indigestion. Genetic testing, blood tests and abdominal images may help diagnose. There is no cure for hereditary pancreatitis. Treatment options depend on the symptoms. Treatments include medications to control pain and pancreatic enzyme replacement. Epidemiological data show hereditary pancreatitis has also been linked to an increased lifetime risk of pancreatic cancer.

How do I know if I have hereditary pancreatitis and what are the symptoms of hereditary pancreatitis?

Patients with hereditary pancreatitis may experience the following symptoms:

• Chronic abdominal pain
• Diarrhea
• Nausea and vomiting
• Weight loss and malnutrition
• Indigestion and high level of fat in stool
• Diabetes

Other health problems may also cause these symptoms. Only a doctor can tell for sure. A person with any of these symptoms should tell the doctor so that the problems can be diagnosed and treated as early as possible.

Who is at risk for hereditary pancreatitis?

Studies demonstrate that cationic trypsinogen gene mutations are associated with hereditary pancreatitis. The major mutations are known as cationic trypsinogen "R122H", "N29I". Further more, hereditary pancreatitis has also been linked to an increased lifetime risk of pancreatic cancer.

How to know you have hereditary pancreatitis?

• Genetic testing: 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.
• Blood tests: Patients with hereditary pancreatitis may be detected high level of amylase and lipase, cholesterol and triglycerides.
• Images: Images, such as ultrasound, CT scan and MRI, may show severe scarring of the pancreas.

When to seek urgent medical care?

Follow your physician's suggested diet, prescribed medications, and other medical orders. If you experience either of the following symptoms, seeking urgent medical care as soon as possible:

• Severe abdominal pain
• Severe diarrhea or vomiting

Treatment options

There is no cure for hereditary pancreatitis. Treatment options depend on the symptoms.

• Change lifestyle: Lifestyle changes, such as avoidance of smoking and alcohol, maintain a healthy diet habit, may reduce the risk of pancreatic cancer.
• Control pain: Medications such as analgesics and narcotics, can be used to control abdominal pain.
• Pancreatic enzyme replacement: Because cationic trypsinogen gene mutations are associated with hereditary pancreatitis, pancreatic enzyme supplements are needed to treat maldigestion.
• Surgery: 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, and the patients may be prescribed insulin to treat the disorder.

Diseases with similar symptoms

• Cholecystitis
• Duodenitis
• Peptic ulcer
• Pancreatic cancer

Where to find medical care for hereditary pancreatitis?

Directions to Hospitals Treating hereditary pancreatitis

Prevention of hereditary pancreatitis

As a cationic trypsinogen gene mutations disease, the preventive measurement focus on the pregnant women with the family history of hereditary pancreatitis. Gene screening test may help the pregnant woman know whether there is any cationic trypsinogen gene mutations on her fetus or not.

What to expect (Outlook/Prognosis)?

As a chronic disease, the effects of hereditary Pancreatitis may last for months or years. Epidemiological data show hereditary pancreatitis has also been linked to an increased lifetime risk of pancreatic cancer, which is the 4th most leading cause of cancer deaths among Americans.

Copyleft Sources

http://www.pancreasfoundation.org/cgi/csNews/csNews.cgi?database=learn_genetics.db&command=viewone&id=2&op=

http://www.ucpancreas.org/hereditarypancreatitis.htm

http://www.wrongdiagnosis.com/h/hereditary_pancreatitis/intro.htm

http://stanford.wellsphere.com/digestive-health-article/hereditary-pancreatitis/696833

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