A Guide For Patients
A properly functioning pancreas creates digestive enzymes, which are made and released in an inactive, harmless form into the small intestine where the process of digestion begins. Pancreatitis occurs when these enzymes become activated before leaving the pancreas, essentially beginning to digest the organ and causing inflammation. The condition can be acute or chronic and leave you suffering from bouts of severe abdominal pain, negatively impacting your quality of life. In this guide, we’ll look at the basics of pancreatitis, how genetics can play a role in it and how genetics may influence your treatment options, strategies to cope and more.
The pancreas is an organ located behind the stomach and it provides two critical functions for your body:
1. It makes and releases digestive enzymes to break down food in your digestive tract.
2. It regulates your blood sugar by releasing insulin and other hormones.
What is Pancreatitis?
Symptoms & Causes
Pancreatitis can either be acute, recurrent acute, or chronic. Acute pancreatitis occurs suddenly. Patients with acute pancreatitis typically present with severe abdominal pain and usually require emergency medical treatment. Some people who have had one attack of acute pancreatitis can go on to have several more attacks. This is called recurrent acute pancreatitis. Recurrent attacks of acute pancreatitis can lead to chronic pancreatitis. Chronic pancreatitis is a long-lasting condition where the health of the pancreas worsens over time. Patients with chronic pancreatitis may have chronic pain, trouble digesting their food, and can develop diabetes. It is diagnosed by imaging studies that show specific changes to the pancreas.
There are several causes of pancreatitis, as well as certain factors that can increase your risk of developing the condition:
Treatment to address dehydration
Antibiotics to address infection
(If you have one)
A low-fat diet or nutrition
(Via a feeding tube or IV if you’re unable to eat)
Treatment for chronic pancreatitis is aimed at relieving pain, improving the function of the pancreas and managing complications. This can include:
Medications & Vitamins
You may need additional vitamins if you have issues with absorbing your food. You may also receive enzymes to help with digestion.
Treatments for Diabetes
Chronic pancreatitis may cause diabetes. If you develop the condition, your medical team will help you monitor and treat it.
Surgery & Procedures
You may have surgery to relieve pressure or a blockage in a pancreatic duct or to remove a portion of your pancreas if it is damaged or infected. Some patients who do not improve with other treatments have their pancreas removed, followed by islet cell auto-transplantation, which can help preserve some of the ability to regulate blood sugar without a pancreas.
Your doctor may also suggest a nerve block for pain management.
How Genetics Play a Role
While some attacks of pancreatitis are the result of medication and other risk factors, pancreatitis can be hereditary. Hereditary pancreatitis is a genetic condition characterized by recurrent episodes of pancreatitis that is typically inherited from a parent. Symptoms of hereditary pancreatitis can begin in childhood with an acute attack that progresses to recurrent acute attacks. These episodes of recurrent inflammation lead to chronic pancreatitis.
Years of ongoing inflammation from hereditary pancreatitis can cause fibrosis — the formation of scar tissue — in place of functioning pancreatic tissue, which leads to loss of pancreatic function.
Chronic pancreatic inflammation can increase your risk of developing pancreatic cancer. Your risk for pancreatic cancer increases if you also smoke, have a family history of cancer, use alcohol or have Type 1 diabetes, according to the U.S. National Library of Medicine.
For most people with hereditary pancreatitis, a pathogenic – or harmful – genetic variant in the PRSS1 gene is responsible for the development of the condition. The PRSS1 gene gives instructions for making an enzyme called cationic trypsinogen, which aids in the digestion of food. Typically, cationic trypsinogen is released from the pancreas and travels to the small intestine where it enters its active form called trypsin. However, in patients with a pathogenic variant in the PRSS1 gene, cationic trypsinogen is converted into trypsin while still in the pancreas, resulting in damage to pancreatic tissue.
Around 60% to 80% of patients with hereditary pancreatitis have a pathogenic variant in the PRSS1 gene. Other patients with hereditary pancreatitis may have variants in the CTRC or SPINK1 genes and still others can have variants in genes that have yet to be identified.
Episodes of acute and chronic pancreatitis can be linked to genetic variants. Idiopathic – or unexplained – chronic pancreatitis is thought to be a complex disorder — meaning multiple variants in multiple genes are suspected to cause the disease in combination with environmental factors. Genetic variants in the CTFR and SPINK1 genes can predispose to the condition, but other genes can also contribute to developing it. In contrast with monogenic disorders, such as hereditary pancreatitis (caused by a high-impact variant in a single gene), people with idiopathic chronic pancreatitis often have several harmful lower-impact variants in multiple genes.
For many patients, more than one gene is involved in the development of their pancreatitis. These patients have what is known as a complex disease. Up to 95% of pancreatitis cases are not caused by monogenic hereditary disorders.
Keep in Mind…
It’s important to note that having a harmful genetic variant does not guarantee a person will experience symptoms. Lifestyle choices, environmental factors, and other genetic factors — some protective — can also contribute to whether someone with a genetic predisposition will develop a disease.
Identifying, diagnosing and treating pancreatitis can be a complicated and frustrating experience for both patients and their healthcare providers. By using genetic tests like Ariel’s PancreasDx®, healthcare providers can get a better insight into what is causing or contributing to the patient’s disease, provide personalized care and drive better patient outcomes. Genetic testing can also help relieve a patient’s stress and anxiety caused by not knowing what is driving their disease (read Amanda’s story). Furthermore, testing may also help patients save valuable time and money by providing the insights needed to guide an earlier diagnosis and treatment plan.
When pancreatitis is left untreated, it can cause severe damage, and sometimes progress to chronic pancreatitis or pancreatic cancer. A patient with pancreatitis who is found to have a genetic variant in the PRSS1 gene will have an increased risk for developing pancreatic cancer . This is why it is very important to find out what genetic variants a patient has so that the healthcare provider can determine appropriate next-steps for care.
PancreasDx is a comprehensive genetic test that integrates a patient’s genetic data with his or her medical history and current symptoms to provide a more complete view of all the factors that may be contributing to current conditions. The PancreasDx test includes genes: PRSS1-2, SPINK1, CFTR, CPA1, CASR, CEL, CLDN2, CTRC, GGT1, PRSS3, SBDS, SLC26A9 and UBR1. Each PancreasDx report provides genetic and biological markers along with evidence-based guidelines that are individualized to each patient. PancreasDx reports equip healthcare providers with actionable information to help guide early diagnoses and more targeted care strategies. PancreasDx may be appropriate for anyone who has had more than one attack of acute pancreatitis.
A change in your diet can help ease pain and reduce pancreatitis attacks. Here are some common dietary tips that can help you manage your disease. Always consult your doctor or dietitian for dietary advice for managing your pancreatitis. During a flare of symptoms, your doctor or healthcare team may advise you not to eat or drink for a short period. Once you’re able to eat and drink again, you may be told to stick to a healthy, low-fat eating plan that includes small, frequent meals and to avoid alcohol and caffeine. For chronic pancreatitis, it is commonly recommended that you:
Eat four to six small meals per day
Spread your fat intake throughout the day
Grill, bake, roast or steam foods
Include a healthy mix of fruits, vegetables, whole grains, protein and low-fat or fat-free dairy in your diet daily
While it may seem there’s not much you can do about short appointment times or a busy physician, there are things you can do to advocate for yourself and strengthen your doctor-patient relationship the next time you visit the doctor.
Preparing for your appointment allows you to specify what you want to discuss and what questions you have. It can be helpful to make a list of your concerns, symptoms and questions ahead of time to ensure you don’t forget anything you’d like to talk about. Creating a list allows your healthcare team to make the most of the time they have with you by focusing on your most pressing concerns.
If your doctor writes you a new prescription or orders a test — or if you don’t understand what your doctor tells you — ask questions. Ask what the prescription or test is for, if there are any side effects that you should watch for and why they are prescribing it. Also, ask if there is anything you need to do to prepare for the test or if there are any specific instructions you should follow when taking the medication. If you’re receiving a test, don’t forget to ask when the test results will be ready and how they will communicate them to you. If you receive a new diagnosis, ask your doctor if your condition is chronic or can be cured, where you can learn more information about it and how it can be treated or managed.
You can be well prepared, but time limits on appointments can still leave you with unaddressed concerns. If you have additional needs, don’t forget to ask for a follow-up appointment.
If you’re dealing with a complex or chronic condition and seeing multiple providers, the person you bring with you can help you remember each treatment you’re receiving or medications you’re taking. They can also help take notes and ask questions about the next steps and a treatment plan.
A strong doctor-patient relationship is a partnership, but if you feel like you don’t work well together, consider finding a new physician. If your doctor doesn’t take the time to listen and answer your questions, doesn’t explain why they recommend treatments, frequently interrupts you, disrespects you or you don’t feel comfortable disclosing important details of your condition, you should end the relationship.
Learn more about pancreatitis from pancreas expert and Ariel’s Co-Founder,
Dr. David Whitcomb.
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