Hereditary pancreatitis is a genetic condition that causes inflammation of the pancreas. Abnormal enzymes render the pancreas unable to break down fats and produce normal levels of insulin. It is common for a person with hereditary pancreatitis to suffer from frequent bouts of abdominal pain, diarrhea, and constipation. The condition cannot be cured, but doctors can help patients avoid chronic health problems by suggesting special diets and prescribing anti-inflammatory medications.
A healthy pancreas produces large numbers of cationic trypsinogen enzymes, which are essential in the process of breaking down fats and converting proteins to usable energy for the body. Hereditary pancreatitis results from a mutation on the gene that produces cationic trypsinogen, leading to defects in the enzymes. Buildups of fat and other irregular activity in the pancreas leads to irritation, inflammation, and decreased functioning of other important processes. Pancreatitis often affects the production and release of insulin, which can lead to diabetes in some people.
Some infants born with hereditary pancreatitis exhibit immediate physical symptoms, but most people do not notice problems until later in childhood or adolescence. An individual may experience pain in the upper abdomen that tends to worsen after eating meals. Digestive issues like indigestion, constipation, diarrhea, and stomach upset are common. Some people suffer from malnutrition regardless of their intake of important vitamins and nutrients. Symptoms tend to become more chronic as the disorder progresses.
A doctor can diagnose hereditary pancreatitis by performing a careful physical examination, questioning patients about their symptoms and familial history, and conducting a computerized tomography scan of the abdomen. The physician may request that a specialist surgeon remove a piece of tissue from the pancreas for a thorough biopsy. In addition, blood and stool samples are usually collected so laboratory technicians can look for abnormally high fat contents.
Hereditary pancreatitis is often more difficult to diagnose and treat than other forms of the disorder. Only about one percent of people with pancreatitis inherit the condition; the vast majority of cases are caused by alcohol abuse and poor dietary choices. Once an accurate diagnosis has been made, a doctor can determine how to best treat inflammation and suppress chronic symptoms.
Physicians usually suggest patients maintain low-fat, high-protein diets and avoid alcoholic beverages so that symptoms do not get worse. Anti-inflammatory drugs can help reduce abdominal pain, and cationic trypsinogen enzyme supplements may be able to increase the pancreas's ability to break down fats. If insulin levels are dangerously low, a patient may need to receive hormone replacements and take medications to help reduce the symptoms of diabetes. Surgery to remove damaged tissue or entirely replace the pancreas may be needed if other treatment options are ineffective.