Hereditary pancreatitis

Medical quality assurance by Dr. Albrecht Nonnenmacher, MD at December 3, 2016
StartDiseasesHereditary pancreatitis

A rare genetic disorder, hereditary pancreatitis (HP) is characterized by recurring pancreatic attacks, which can lead to chronic pancreatitis. The condition can present at any age but most often affects a person within the first two decades of their life. According to the National Pancreas Foundation, roughly 1,000 individuals in the United States are affected by the condition.

Contents

Definition & Facts

Hereditary pancreatitis is an inherited disease characterized by frequent, painful pancreatic attacks that begin at an early age. The condition causes inflammation of the pancreas, an important organ that helps the body digest food and produces insulin to control blood sugar levels in the body. For most patients, the attacks will progress to chronic pancreatitis.

In some cases, the recurring episodes of pancreatitis may also lead to permanent tissue damage and loss of pancreatic function. Hereditary pancreatitis has also been linked to an increased risk of pancreatic cancer, so it is important that patients discuss the risk with their doctors and undergo important screening measures to detect cell abnormalities as early as possible.

Symptoms & Complaints

Symptoms of this condition typically begin in late childhood as an acute pancreatic attack. This sudden attack may cause abdominal pain, nausea, fever, and/or vomiting and may last anywhere from one to three days.

Hereditary pancreatitis then progresses to recurrent acute attacks with multiple episodes occurring over the period of a year. The number of episodes typically varies by person. Individuals with recurrent attacks may also experience diarrhea and malnutrition.

If the condition progresses, it may develop into chronic pancreatitis in early adulthood. This condition is marked by a persistently inflamed pancreas as well as occasional or frequent abdominal pain of varying degrees, flatulence, and bloating. Many individuals with the condition may also develop abnormal calcium deposits in the pancreas by early adulthood.

Additionally, individuals who have experienced years of inflammation may develop damage and scar tissue (fibrosis) in the place of functioning pancreatic tissue (pancreatic fibrosis). This fibrosis often leads to the loss of pancreatic function in many affected individuals, which may impair digestion and contribute to fatty stool (steatorrhea), unexplained weight loss, protein deficiency, and vitamin deficiencies. Many individuals also develop diabetes because of the reduced function of the pancreas.

Causes

Hereditary pancreatitis is a genetic disorder, meaning that it runs in families. Most individuals (up to 81 percent) who are diagnosed with the condition also have a genetic mutation on the PRSS1 gene. This mutation is inherited via an autosomal dominant inheritance pattern. Another gene that is associated with this condition is SPINK1 gene.

While dietary and lifestyle choices are not necessarily a cause of the condition itself, there are a number of factors that seem to play a role in the frequency of attacks. For example, a diet that is low in carbohydrates and high in protein and fat may increase pain and the frequency of attacks. Likewise, cigarette smoking and alcohol abuse are also known to dramatically increase the risk for pancreatic attacks among individuals with HP.

Diagnosis & Tests

The condition is diagnosed using many of the same tests performed for acute pancreatitis and chronic pancreatitis. An initial evaluation will involve a thorough inquiry into one’s personal and family medical history as well as a physical examination.

If there is a family history of pancreatic disease or if no other cause for the condition can be found, genetic testing is the next step. This testing is done to determine the presence of genetic mutations. Individuals who undergo this process also typically meet with a genetic counselor prior to the test to help them understand the implications of receiving a positive test result.

Treatment & Therapy

There is currently no cure for hereditary pancreatitis. However, treatment can help reduce symptoms of the condition and typically involves measures aimed at minimizing pain and maximizing optimal nutrition. In many cases, this involves adopting a diet that is high in carbohydrates and lower in protein and fat to reduce pain and improve digestibility.

Also, individuals with the condition are often encouraged to give up smoking and drinking alcohol as both can contribute to pain and make the likelihood of developing pancreatic cancer even higher. In many cases, individuals are encouraged to take pancreatic enzyme replacements.

In some cases, however, these treatments may not be enough, and surgery may be required to alleviate symptoms and improve pancreatic function. Sometimes, the pain and other complications associated with the condition may require that the pancreas be removed (pancreatectomy). This can eliminate the risk of developing pancreatic cancer over time as well. There are treatments to help patients avoid developing brittle diabetes (a kind of type 1 diabetes), a consequence of pancreas resection.

Prevention & Prophylaxis

There is no way to completely prevent hereditary pancreatitis because it is an inherited condition. However, certain dietary and lifestyle changes can be made to reduce the risk of attacks as well as manage pain and inflammation.

In many cases following a diet lower in protein and fat and higher in carbohydrates helps minimize pain. Also, avoiding alcohol can contribute to more effectively managing the condition and minimizing the prevalence of attacks. And quitting smoking is an essential preventative and treatment measure, as it can help reduce the risk for attacks as well as for developing cancer later on.

While hereditary pancreatitis is a chronic, progressive disease that may cause symptoms for several months or even years, there are ways to reduce symptoms. Patients should undergo routine checkups to identify any indications of pancreatic cancer as the condition progresses.