The pancreas is an organ located behind the stomach and it provides two critical functions for your body:
Treatment to address dehydration
Antibiotics to address infection
(If you have one)
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.
More About Polygenic Causes of Pancreatitis
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.
Eat four to six small meals per day
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.
A new approach is now available. Precision medicine uses the latest scientific research, clinical features and genetics to tie everything together to find out what’s going on with an individual patient. Ariel Precision Medicine’s technology focuses on complex genetics that interface with familial and environmental factors to provide you and your healthcare team with a more comprehensive view of your disease trajectory and precise therapeutic options. Talk to your doctor today about how Ariel’s PancreasDx test can help you better understand and manage your pancreatitis.
Pancreatitis is an inflammation of the pancreas. The pancreas is an organ located behind your stomach that helps digest food and keeps your blood sugar levels normal. Pancreatitis is inflammation of the pancreas that leads to severe pain and other disabling problems. The disease has several different causes that can include your genetics, gallstones, high levels of fat in the blood and things you are exposed to from the environment, including medications, alcohol and smoking. These different causes sometimes need very different treatments. ArielDx® Pancreatitis can help you understand which causes are the likely reason for your pancreatitis. This can help doctors choose the best approach to your medical care, including treatment options, and help predict possible complications. ArielDx® Pancreatitis uses information from genetic testing, your health records, and environmental exposures to provide a personalized guide for your care. Our goal is to minimize disease effects and maximize health and quality of life. Since you share genetics with your family, our genetic test results can also help you understand the risk of pancreatitis for your relatives.
ArielDx® Pancreatitis is ordered by your doctor or care provider. After the order is placed, you will receive an email invitation to register for access to Ariel’s patient portal. You will be asked to complete your account registration and consent to testing and standard billing processes with your insurance. Once this important step is complete, you have the opportunity to answer some questions about your symptoms, your health history and whether anyone else in your family has similar symptoms. The information you provide is important and will improve the results you receive from ArielDx® Pancreatitis. Your Ariel health profile can be updated at any time. Changes in your health history may change the interpretation of your genetic results. Ariel also provides access to trained genetic counselor who can help you understand the test, the need for the test, and what it means for you and your family. Once your account is registered, Ariel will contact your insurance to discuss your specific plan benefits and any potential out of pocket expenses. At the same time, Ariel will ship a DNA collection kit to your home for sample collection. Inside the kit, you will find instructions and everything you need for collecting and returning the sample. Our painless collection process uses DNA from your cheek cells inside your mouth and saliva for genetic analysis. Ariel includes a pre-paid padded envelope for you to return your sample directly through the mail. Within 2-4 weeks of your sample arriving at our lab, your doctor will receive your ArielDx® Pancreatitis report and be able to share it with you, in person or through the secure Ariel website. Log in to see your results and access tools for help, questions or for more information. Genetic counseling services are available and accessible through your patient dashboard if they are not provided through your doctor’s clinic or hospital.
Anyone who has had an attack of acute pancreatitis, especially if they have had more than one attack. In addition, anyone who has signs or symptoms of pancreatic disease such as abdominal pain after eating, chronic diarrhea, abnormal findings on a CT or MRI scan, or an abnormal laboratory test linked to the pancreas. An early evaluation may possibly prevent lengthy and costly evaluations, delayed diagnosis and more complications.
ArielDx® Pancreatitis uses some of the highest quality genetic testing technology on the market, and our laboratory is CLIA-certified. ArielDx® Pancreatitis reports are developed by leading researchers and physicians in the field of pancreatic disease. For extra help with the ArielDx® Pancreatitis report, Ariel offers genetic counseling services. Genetic counselors are trained healthcare professionals who can help interpret genetic tests and provide supportive counseling and education.
The security of your medical and genetic information is our priority. Ariel’s online portal meets or exceeds the highest regulations for health information privacy and security.
ArielDx® Pancreatitis tests genes that are related to chronic pancreatitis, including CASR, CEL, CFTR, CLDN2, CPA1, CTRC, GGT1, PRSS1-2, PRSS3, SBDS, SLC26A9, SPINK1 and UBR1.
If appropriate, your clinician can order two additional gene panels: one related to how your body handles fats and cholesterol in your blood that leads to an increased genetic risk of pancreatitis and one that may identify how you may respond to pain medications: