Pancreatitis and genetics
Pancreatitis is an inflammation of the pancreas, a critical organ responsible for producing digestive enzymes and insulin. The condition can present in two forms: acute and chronic, with various causes, including gallstones, heavy alcohol use, trauma, and genetic factors. Notably, genetics play a significant role in hereditary pancreatitis, which is often linked to mutations in the cationic trypsinogen gene (PRSS1). Individuals with a family history of pancreatitis, particularly those experiencing symptoms before the age of thirty, may be at higher risk, although not all cases of hereditary pancreatitis exhibit known mutations.
Symptoms of pancreatitis primarily include abdominal pain, which may radiate to the back, along with nausea, distension, and weight loss. Diagnosis often involves genetic testing and imaging studies, while treatment focuses on pain management and addressing underlying causes, such as gallstones. Although no cure exists, lifestyle modifications—like avoiding alcohol and maintaining a healthy diet—can improve outcomes. Understanding the genetic aspects of pancreatitis can aid in better diagnosis and management, especially for those with a familial predisposition to the condition.
Pancreatitis and genetics
ALSO KNOWN AS: Acute pancreatitis; chronic pancreatitis; hereditary pancreatitis
DEFINITION Pancreatitis is an inflammation of the pancreas, a large gland located near the liver and gallbladder that secretes insulin and enzymes that help to digest food. These enzymes normally join bile and other substances flowing through the digestive system, becoming active only when they reach the intestines. When the pancreas is unable to release these enzymes, they become active before they leave the pancreas, causing inflammation and damage to pancreatic tissue. Pancreatitis can be hereditary or may be related to other diseases that are genetic in nature.
Risk Factors
Pancreatitis is often caused by gallstones that block the pancreatic duct and prevent enzymes from flowing out of the pancreas. Other factors are heavy use of alcohol, trauma, certain medications, and genetic abnormalities of the pancreas. Men are affected by pancreatitis more than women. Chronic pancreatitis usually affects people sometime in their thirties or forties.
Etiology and Genetics
Two major gene mutations, known as R122H and N29I, to the cationic tryspinogen gene (PRSS1) are associated with hereditary pancreatitis. Family members may carry one, but usually not more than one, mutation. However, even families with a strong history of pancreatitis have none of the known mutations, so scientists believe that other gene mutations for this disease exist. Hereditary pancreatitis follows an autosomal dominant inheritance pattern. It is a possible diagnosis if a person has two or more family members in one generation with pancreatitis and has pancreatic problems before they are thirty; however, most often this condition is not diagnosed for several years as the symptoms (abdominal pain and diarrhea) come and go seemingly in a random fashion.
Some disorders of the pancreas are hereditary, such as a genetic abnormality in structure. For example, pancreas divisum is an inherited condition where two pancreatic ducts form rather than one. Another inherited disorder is a genetic mutation that causes pancreatic enzymes to become active when they are produced. Other hereditary conditions are related to pancreatitis, but the reasons for the relationship are unclear. Hereditary conditions that seem to be related to pancreatitis include cystic fibrosis, certain autoimmune conditions, porphyria, hypercalcemia (high levels of calcium in the blood, which may be related to gallstone production), and hyperlipidemia (high levels of fat in the blood).
Symptoms
Abdominal pain, either acute or chronic, is the main symptom of pancreatitis. Pain may extend into the back or be worse after eating. A distended abdomen, nausea, oily stool, or fever may also be present. Weight loss (from malabsorption) may be a symptom. In severe cases, bleeding and infection may be symptoms.
Screening and Diagnosis
Genetic testing may help diagnose hereditary pancreatitis. When symptoms are present, a blood test for amylase and lipase, the enzymes normally found in the pancreas, is usually the first test to determine pancreatitis. Ultrasound, CT, and MRI testing may also be helpful. Blood, urine, and stool tests may be used to confirm diagnosis and monitor treatment. Glucose tolerance testing can help determine whether the pancreas is still releasing insulin.
Treatment and Therapy
No cure currently exists for pancreatitis. Pain relief is generally the first step. In acute cases, one may be hospitalized to receive narcotics and possibly intravenous or tube-feeding to give the pancreas time to rest and heal. Once the acute symptoms are under control, treatment of the underlying cause can begin. Treatment may involve surgery to remove any gallstones blocking the pancreatic duct or draining any cysts or removing any scar tissue that may be present. Other strategies include sphincterotomy, an enlargement of the sphincter muscle that keeps the pancreatic duct closed, or placing a stent, a small piece of material that keeps the duct open. Replacement of pancreatic enzymes may be necessary in cases where the pancreas has impaired function. Removing the pancreas is not generally recommended, as this procedure results in a type of that is extremely difficult to manage. However, autologous islet cell transplantation is a therapy that may be helpful for patients with hereditary pancreatitis.
Prevention and Outcomes
According to statistics from various sources compiled in the 2020s, the prevalence of pancreatitis varies greatly. The number of acute pancreatitis cases was between 13 and 45 per 100,000 people annually, while the prevalence of chronic pancreatitis was about 50 per 100,000 people.
Heavy alcohol use is a prime risk factor for developing pancreatitis; avoiding alcohol is the best way to avoid this disease. Outcomes are better for patients who make dietary and lifestyle changes, such as not smoking or drinking alcohol, drinking more water, and eating a low-fat, healthy diet. Management of this condition may involve treatment for alcohol or tobacco addiction. Some alternative therapies, such as acupuncture or meditation, may help manage the pain associated with this condition. Keeping the pancreas active producing enzymes and releasing insulin is important; otherwise, it may begin to calcify or die and portions may need to be removed surgically. In advanced stages, malabsorption, diabetes, impairment of lung function, and kidney failure can occur. Long-term damage to the pancreas is also a risk factor for pancreatic cancer.
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