Hereditary Pancreatitis: A Painful Disease Affecting Many Kentuckians

LEXINGTON, Ky. (Oct. 2, 2017) - The pancreas is an organ that serves two main functions: it produces enzymes that aid digestion, and insulin, a hormone that controls blood sugar levels.

When the pancreas becomes inflamed – caused by digestive enzymes that attack pancreatic cells – it can wreak havoc on the body. This disease is known as pancreatitis. It can appear suddenly and last for days (acute) or can be life-threatening or persistent (chronic).

Though outside factors may cause pancreatitis, including gallstones and alcohol abuse, it can also be a hereditary disease. It is a major health problem, especially in Appalachia where multiple family members often struggle to manage this disease. In my first year working at Kentucky Children's Hospital, I saw more cases of hereditary pancreatitis than in 14 years at my previous institution.   

Symptoms of this disease usually begin in the first two decades of childhood, with a pancreatitis episode that can last 1-3 days and can include severe symptoms like vomiting, nausea and abdominal pain. Patients may describe the pain as "rib-crushing," or a "stabbing" sensation in the abdomen. Other symptoms include fever, chills, weakness, lethargy and foul-smelling stool.

Because pain usually worsens after eating, many patients avoid it, resulting in unintentional weight loss and malnutrition. Children with debilitating pain may miss many days of school due to hospital stays. Other complications can arise, including diabetes, pancreatic cysts and even pancreatic cancer later in adulthood.

Chronic pancreatitis can be diagnosed with blood testing and/or imaging studies like CT scans or ultrasounds, though imaging studies are not as accurate for detecting pancreatitis in children as in adults and abnormal blood tests in acute pancreatitis might be normal in chronic pancreatitis. Therefore, hereditary pancreatitis is often underdiagnosed and children might unfortunately be labeled as malingerers or having drug-seeking behavior for pain medication. 

Treatment varies depending on the patient and disease severity. Patients may be asked to fast to let the pancreas rest, and given IV fluids and medications for pain. Some need to follow a strict diet and take pancreatic enzymes to prevent flare-ups.

Because pain is one of the most difficult issues for children with this disease, medications to control pain and nausea are prescribed. The overuse of opioids has become a crisis in this country, affecting our state particularly hard, so this leaves many children and their parents in a difficult position: trying to find a balance of medication that keeps pain at a manageable level without becoming addicted. 

In recent years, a relatively new surgery for chronic pancreatitis has offered hope for patients. Known as a Total Pancreatectomy with Islet Autotransplantation (TPIAT), the procedure involves removing the entire pancreas, saving the islet cells (which produce insulin) and then re-implanting those cells in the liver, where they take up residence and ideally resume their essential function.  

Though the procedure is complex, it can potentially offer permanent relief for many children who deal this painful disease on a daily basis.

Dr. George Fuchs is a pediatric gastroenterologist at Kentucky Children's Hospital.