PancreasDx® 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.
Without a pancreas, you cannot completely digest food, which would leave you malnourished. Additionally, since the pancreas regulates blood sugar, you would have diabetes without one.
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:
It makes and releases digestive enzymes to break down food in your digestive tract
It regulates your blood sugar by releasing insulin and other hormones.
What is Pancreatitis?
SYMPTOMS & CAUSES
Acute versus Chronic Pancreatitis
Pancreatitis can either be 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.
Symptoms of Pancreatitis
Symptoms of pancreatitis can vary widely from patient to patient.
Sudden severe upper abdominal pain that may radiate to your back and/or feel worse after eating
Upper abdominal pain, which may be constant or episodic
Unintentional weight loss
Oily, smelly stools that may or may not be diarrhea
What Causes Pancreatitis?
There are several causes of pancreatitis, as well as certain factors that can increase your risk of developing the condition:
(Via a feeding tube or IV if you’re unable to eat)
Pain Relief Treatment
Treatment for chronic pancreatitis is aimed at relieving pain, improving the function of the pancreas and managing complications. This can include:
Medications and Vitamins
You may need additional vitamins if you have issues with absorbing your food. You may also receive enzymes to help with digestion.
TREATMENT FOR DIABETES
Chronic pancreatitis may cause diabetes. If you develop the condition, your medical team will help you monitor and treat it.
SURGERY AND 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.
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.
Hereditary Pancreatitis Complications
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.
How Genetics Influences
If you have chronic pancreatitis, have had an attack of acute pancreatitis or have a family member with the condition, you may be wondering how genetics influences disease onset, progression and treatment.
Knowing which genetic variant or variants are causing your condition can help your care team tailor your treatment. Genetic testing, combined with your medical and family history, can help reduce unnecessary testing, procedures and medication.
Should My Family or I Get Tested?
Genetic testing can help you make informed decisions about your care. Consider genetic testing for pancreatic diseases if you:
Have acute or chronic pancreatitis of an unknown cause
Had an early age of onset — 35 years old or younger — of pancreatitis
Have a family history of chronic pancreatitis, acute or recurrent acute pancreatitis, or childhood pancreatitis involving a first- or second-degree relative
Are an at-risk family member of someone who has an identified pathogenic genetic variant associated with hereditary pancreatitis
Want to identify the cause of your pancreatitis or are simply seeking more information about the progression of your disease
Which Genetic Tests for Pancreatitis Should I Use?
There are a range of genetic variants that contribute to pancreatic diseases like pancreatitis, and if you’re considering genetic testing, you’re probably wondering which genes you should test for.
Before you get tested, however, you should consider genetic counseling to help you understand which test is appropriate, what the results could mean and where to get more resources.
How Doctors Can Use Genetic Information for Treatment
If you’re dealing with a complex chronic pancreatic disease like pancreatitis or cancer, you’re probably wondering:
Why did this happen to me?
What’s going to happen to me in the future?
Is there anything I can do to reduce or stop disease progression and/or symptoms?
The information from your genetic tests, combined with your clinical history, can give your physician insight into why you developed your disease, how it might progress and what can be done to potentially limit its progression/reduce symptoms. It can also help reduce time to diagnosis and let your physician know if the treatments they’re using for your disease are effective.
Get Tips On Wellness & How to
Communicate with Your Healthcare Team
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
Advocating for Yourself
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.
Prepare for your appointment
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.
Ask for another appointment, if needed
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.
Bring someone with you
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.
Know when to seek a second opinion or find a new doctor
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 For
In the past, physicians and scientists relied on looking at single factors for disease development and progression. This did very little to provide insight into disease progression and did not provide a complete picture of what the patient was experiencing.
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.
Talk to your doctor today about how Ariel’s PancreasDx® test can help you better understand and manage your pancreatitis.
PancreasDx: Go Beyond Genetics for Managing Recurrent Acute and Chronic 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. PancreasDx® 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.
PancreasDx® 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.
How does PancreasDx work?
PancreasDx® 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 PancreasDx®. 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 PancreasDx® 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.
Who should get tested?
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.
What kind of genetic testing technology do you use?
PancreasDx® uses some of the highest quality genetic testing technology on the market, and our laboratory is CLIA-certified.PancreasDx® reports are developed by leading researchers and physicians in the field of pancreatic disease.
For extra help with the PancreasDx® report, Ariel offers genetic counseling services. Genetic counselors are trained healthcare professionals who can help interpret genetic tests and provide supportive counseling and education.
Is my information protected?
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.
Which genes does PancreasDx test for?
PancreasDx® tests genes that are related to chronic pancreatitis, including CASR, CEL, CFTR, CLDN2, CPA1, CTRC, GGT1, PRSS1-2, PRSS3, SBDS, SLC26A9, SPINK1 and UBR1.
What if I need additional testing?
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:
ArielDx® Lipids is a panel of genes related to increased levels of fat in the blood. Some individuals have an
inherited predisposition to these conditions, which is one of the causes of pancreatitis.
Genes tested include APOA5, APOB, APOC2, FABP4, LPL and PPARG.
What if I have more questions or need additional information?