Hereditary Pancreatitis

Patients experience recurrent attacks of exceptionally severe abdominal pain, nausea, and vomiting and often require opiates to provide relief.

Initial symptoms usually occur before the age of 10 and can progress to diabetes due to damage in specific parts of the pancreas that produce insulin (islet cells). Patients with hereditary pancreatitis are also at an increased risk of developing pancreatic cancer.

Treatment options are limited and generally include opioid use for pain management or surgery to temporarily relieve symptoms.

Research

Kidney Transplant & Diabetes Research Australia is proud to support research into hereditary pancreatitis, led by Professor Toby Coates, the Director of Transplant Medicine at the Royal Adelaide Hospital, and his multidisciplinary team of clinicians and researchers from all over Australia.

Their program titled “Hereditary Pancreatitis and Auto-Islet Transplant Trials in Australia (HEPATA)” aims to:

• implement a new treatment for hereditary pancreatitis: Total Pancreatectomy, and Islet Auto-transplantation (TPIAT) program – a novel and preferred curative solution for hereditary pancreatitis.
• establish an Australia-wide hereditary pancreatitis registry.

Through research, we seek to improve our understanding of hereditary pancreatitis in Australia and find novel treatments to cure hereditary pancreatitis.

Prevalence

Based on previous studies, our team estimated that the prevalence of hereditary pancreatitis in Australia is 2.5 per 100,000 people. Pancreatitis also disproportionately affects Australia’s indigenous population, with approximately 34% of affected people being of Indigenous background.

Genetics

Can pancreatitis run in families?

Yes, pancreatitis can run in families. There are different types of pancreatitis, and sometimes it’s linked to our genes. In some families, there’s a specific gene change called PRSS1, leading to what’s called ‘hereditary pancreatitis.’ Another type is ‘CFTR-related pancreatitis,’ which is linked to cystic fibrosis. If there’s no identified gene change, it’s usually called ‘familial pancreatitis.’

What causes hereditary pancreatitis?

Hereditary pancreatitis happens when there’s a particular change (variant) in the PRSS1 gene. This gene provides instructions for making a protein called trypsinogen, crucial for digesting food. The variants in PRSS1 causing hereditary pancreatitis make trypsinogen too active, leading to the breakdown of the pancreas.

How is hereditary pancreatitis inherited?

Hereditary pancreatitis is inherited when one of the two copies of the PRSS1 gene has the variant. This is called ‘autosomal dominant inheritance.’ It means that if a parent has it, there’s a 50% chance their child will inherit it too. Sometimes, the variant can show up for the first time in a person, known as a ‘de novo’ variant.

Other genes and pancreatitis

Apart from PRSS1, there are other genes like CTRC, CPA1, CEL, SPINK1, and CFTR that can also cause pancreatitis. Sometimes, multiple different gene variants causing pancreatitis are found in the same family.

Genetic testing for pancreatitis

Genetic testing can help identify if pancreatitis in a family is due to a gene variant. It involves taking a blood or saliva sample to check for changes in genes like PRSS1 and CFTR. Knowing the gene variant can guide the management of pancreatitis and help with family planning decisions.

Research in the genetics of pancreatitis

Scientists are studying the genes linked to pancreatitis to understand why it happens, how different variants lead to different types of the disease and what new genes might be causing the condition. This research may improve genetic testing and care for people with pancreatitis in the future.

Dietary information

The pancreas has an important role in the digestion and absorption of the food we eat, including;

• Producing enzymes which help digest (break-down) the fat, carbohydrate, and protein in food and allow them to be absorbed.
• Producing hormones including insulin and glucagon, which control the amount of sugar in your blood.

Healthy eating and maintaining a healthy weight

To help support your nutrition it is very important that you try to achieve and maintain a healthy weight. If you are overweight or a healthy weight and eating well, you may just need a diet for healthy eating.

To follow a healthy and balanced diet, make sure you include foods from each of the food groups and avoid drinking alcohol which can increase your risk of damage to your pancreas. Eating a variety of foods across all food groups will help you get adequate nutrients. Due to pancreatitis, you may be at increased risk of Diabetes. A healthy, balanced diet can also be helpful for controlling your blood sugar levels if you have Diabetes; along with any medications or insulin that have been prescribed by your Doctor.

For more information on healthy eating, please see this website: https://www.eatforhealth.gov.au/guidelines/australian-guide-healthy-eating

Alternatively, if you are underweight or losing weight unintentionally you may need a diet high in protein and energy to help maintain or gain weight.

Symptoms that impact your nutrition

You may experience symptoms that can impact your nutrition and the amount you are able to eat. These include: pain, feeling full quickly, poor appetite, nausea, vomiting and diarrhoea. This can lead to losing weight unintentionally and not getting adequate nutrition.

Having small, frequent meals across your day (5-6 small meals/snacks) can be a helpful way to manage these symptoms. If you are underweight or losing weight unintentionally you may need a diet high in protein and energy to help maintain or gain weight, a Dietitian can help you with this.

Pancreatic Exocrine Insufficiency (PEI)

When you have hereditary pancreatitis, your body may not produce enough enzymes to digest food, this is called PEI. This means you may have trouble digesting food, in particular fat. If you have PEI you are also at risk of vitamin and mineral deficiencies, this can be monitored by your Doctor.

Signs of PEI include loose, pale, greasy, floating and offensive-smelling bowel motions, abdominal pain (cramping/bloating/ pain with eating), or unexplained weight loss.

If you have symptoms of PEI, it may be recommended that you trial pancreatic enzyme replacement therapy (PERT). Pancreatic enzymes help digest the foods you eat and can be taken as a capsule with all food and drinks that contain fat and protein.

If you have had surgery for your Hereditary Pancreatitis (Total Pancreatectomy and Auto Islet Transplant – TPIAT), your body will not make any enzymes as your pancreas has been removed, this means you will need PERT lifelong to break down and absorb the food you eat.

When to see a dietitian

A dietitian can help you with:

• Working out the correct dose of PERT.
• Diabetes management.
• Advice on vitamin and mineral deficiencies.
• Maintaining a healthy weight.

Discuss a referral to a dietitian with your doctor or GP.

Treatment options

Treatment of hereditary pancreatitis can be medical, endoscopic, or surgical.

Medical treatments include medications to reduce disabling pain caused by hereditary pancreatitis such as non-steroidal anti-inflammatory medications and narcotic pain medications as well as pancreatic enzyme replacement to treat malabsorption and steatorrhea.

Endoscopic treatments can be used to treat stones and pseudocysts, and stent placement for pain relief.

Surgical procedures involve the removal of all or part of the pancreas, depending on the severity of the disease.

TPIAT program

TPIAT is a novel treatment that involves the removal of a patient’s pancreas and harvesting the islet cells (needed to produce insulin) which are then infused into the patient’s liver, curing them of their chronic condition. At present TPIAT procedures have limited access in Australia and are mainly funded by philanthropic donations. The funding constraints dramatically limit access to the procedure. Therefore, our group has secured funding for set number of procedures with an aim to aim to collate comprehensive evidence to secure public funding for these procedures through the Medicare Benefits Schedule (MBS). This will provide equitable access and dramatically improve outcomes and prognosis for all HP patients in Australia.

You can find additional information on TPIAT program here.

Hereditary Pancreatitis Registry

We are establishing Australia’s first Hereditary Pancreatitis Registry which will consolidate demographic, genetic, and clinical information on individuals with HP and their family members. The registry will serve as a tool from which suitable candidates for the TP-IAT program will be identified, but it will also enable us to facilitate hereditary pancreatitis research in Australia and assist in identifying new diagnoses in the future.

Read Merle’s inspiring family journey here:

My husband was 12 years old when he lost his father to pancreatic cancer. It was determined that he had hereditary pancreatitis. My husband and most of his siblings suffered from the same condition. Periods of intense abdominal pain, being unable to function at standard day to day tasks, frequent stints in hospital with many trips to Adelaide to see specialists. My husband spent 3 months in hospital as an 18 year old and had emergency surgery to remove part of his pancreas, he developed diabetes in his early 20s and later he went on to have a total pancreatectomy for cancer prevention in his 30s.

When Sebastian was born we were able to work with the genetics team at Women’s and Childrens to isolate the gene that caused the condition. It was determined that it was a mutation in PRSS1 gene. Seb spent much of childhood in significant pain. At three years old we had our first trip emergency flyout with RFDS to the Women’s and Childrens. As Seb got older the attacks of pancreatitis continued and became more frequent resulting in Seb leaving boarding school before finishing year 12 due to the stress associated with recurring pain and high demands of year 12 study. Seb was fortunate enough to benefit from life changing surgery with John Chen and Toby Coates’s team receiving a total pancreatectomy and auto islet cell transplant at 19 years old. This has changed Seb’s life. Pain is no longer an issue and the risk of cancer has been eliminated. The operation was a success and Seb is not diabetic meaning his islet cells are producing insulin in the liver. Amazing and we are so thankful.

When our daughter Poppy was born we were able to have cord blood tested for the gene mutation so knew from the beginning that Poppy was to develop pancreatitis also. Poppy started to have attacks of pancreatitis from 2 years old. Her attacks were quite severe and she spent a lot of time in pain. When Poppy was 7 years old she also developed type 1 diabetes. This meant that her pancreas was not doing anything it was meant to be doing for her and only making her ill. Poppy’s gastroenterologist suggested a total pancreatectomy. Poppy underwent this surgery in 2023 at 11 years and has made an amazing recovery.

I have sat by many bed sides and watched my family members in severe pain, feeling helpless and at a loss of what to do. But as of November 2023 I am the only one in my family with a pancreas and my children are not in any pain. I couldn’t be happier.

Learn more from Lisa’s story of her daughter:

Our daughter was diagnosed with Hereditary Pancreatitis (HP) at 3 yrs of age however the journey to the diagnosis was long and traumatic.

She began showing symptoms of HP around 12 months of age when I transitioned her from breast milk to formulated milk. The initial symptom was larger stool size as her body struggled to break down the formula. As more foods were introduced to her diet she began to develop abdominal pain and constipation. I took her to the doctors several times as I couldn’t understand why she would be constipated as I made most of her food that consisted of mainly fruit and vegetables and she drank enough water. The doctors just said it was her diet, she needs to eat fruit and vegetables and drink plenty of water and also wanted to refer me to a nutritionist. I was very frustrated as this is predominantly what she ate and drank.

I began tracking her diet and noticed her abdominal pain increased after social outings such as birthday parties. The only change was the change in diet, particularly at kids parties as they included a lot of high fat foods. Gradually overtime her pain began increasing as now she would be doubled over in pain, crying and usually vomiting. I stopped going to the doctors and started taking her to hospital emergency rooms, they took X-rays of her abdominal area, and just said she was constipated and again they told me what she should be eating. I was becoming extremely frustrated as ‘mother’s intuition’ I knew something else was wrong. Unfortunately she had another ‘attack’ even more severe than before, curled up in a ball with extreme pain, vomiting and crying (again at a birthday party). I was feeling so helpless and upset knowing if I took her back to the hospital that would just tell me the same thing I had heard too many times before so I decided to took her to a different hospital. This time they did blood tests and found her lipase level over 2000 which is dangerously high. They immediately admitted her, put her on IV fluids, pain relief, and further tests found her pancreas was approximately 10% ‘eaten’. Later that week she was diagnosed with HP.

The dietitian at the hospital suggested a low fat diet for the following few months to rest her pancreas.

Our daughter is now 15 years old and has maintained a very low fat diet (approximately 97% fat free) since her diagnosis at 3 years old. We also sort the assistance of a naturopath to help strengthen the internal digestive functions of her body.

Without jinxing us, she has not had an attack since we left the hospital at 3 yrs of age. We personally believe this is due to her maintaining a low fat diet and naturopathic support. (Note: there has been little research into the dietary effects on HP, this is just our own personal experience and how we have managed it.)

The HEPATA team contact

If you or anyone you know suffers from hereditary pancreatitis, or if you would like to obtain any additional information about hereditary pancreatitis, please contact our team at: [email protected]

Funding

This research has been funded by the Kidney, Transplant & Diabetes Research Australia, The Hospital Research Foundation Group, and the National Health and Medical Research Council.