How Genetics Can Contribute to Pancreatitis

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Every year, more than 300,000 Americans are diagnosed with acute or chronic pancreatitis. This gastrointestinal affliction causes excruciating abdominal pain, a symptom shared by many other diseases and conditions.

Diagnosing pancreatic diseases is a challenge. The symptoms of many pancreatic diseases are very similar to other conditions, making it difficult for healthcare professionals to identify the problem, its cause and the most appropriate treatment.

Some attacks of pancreatitis are the result of certain medications or other risk factors, but other cases of pancreatitis may be the result of genetic variants. Genetic testing is the only way to identify genetic risk variants for pancreatitis. It can offer helpful insight into the disease’s cause and support personalized care.

Here, we’ll break down what pancreatitis is and the impact genetic testing is making on diagnosing and managing this condition.

What is the Pancreas?

The pancreas is a vital abdominal organ located behind the stomach. It’s close to the duodenum, the beginning of the small intestine. providing two critical functions for your body:

  • It makes and releases digestive enzymes to break down food in your digestive tract. The digestive enzymes produced by the pancreas break down food in the small intestine.
  • It’s islet cells secrete the hormones insulin and glucagon, which control and balance your body’s blood sugar.

You’ve probably never given your pancreas a second thought. Still, without it, you’d be malnourished from not being able to completely digest your food and have a great deal of difficulty controlling your blood sugar!

Unfortunately, the pancreas, just like every other organ in the body, is vulnerable to disease.

What is Pancreatitis?

The simple definition of pancreatitis is inflammation of the pancreas, but the disease itself is complex. As described above, your pancreas produces enzymes to assist the digestive process. To protect your pancreas, these enzymes are created and released in an inactive form. The enzymes travel from the pancreas to the small intestine, where they’re activated and digest your meals.

Pancreatitis occurs when those pancreatic enzymes become active while still in the pancreas. Rather than breaking down your food, these enzymes break down the pancreas, leading to inflammation and possible organ damage.

There are three types of pancreatitis: acute, recurring acute or chronic. Here’s what you need to know about these conditions:

Acute Pancreatitis

Acute pancreatitis occurs suddenly and is often caused by gallstones blocking a bile duct. Patients with acute pancreatitis typically have severe abdominal pain and often require emergency medical treatment. Medical intervention usually relieves the pain. Acute pancreatitis can be life threatening.

Recurrent Acute Pancreatitis

Some people who have had one attack of acute pancreatitis can go on to have several more episodes. This is called recurrent acute pancreatitis. Recurrent attacks of acute pancreatitis can lead to chronic pancreatitis.

Chronic Pancreatitis

Chronic pancreatitis is long-lasting, painful inflammation of the pancreas that reduces the health of the pancreas over time. If left untreated, chronic pancreatitis leads to permanent pancreas damage. Not treating chronic pancreatitis can also interfere with the body’s ability to digest food or produce insulin and lead to death.

Patients with chronic pancreatitis may have chronic pain or even develop diabetes. It can be diagnosed by specific changes to the pancreas on imaging studies. According to The National Pancreas Foundation, chronic pancreatitis is usually more common in men, especially those between the ages of 30 and 40. Risk factors for chronic pancreatitis include several medical conditions, alcohol consumption and genetics.

What Causes Pancreatitis?

There are several causes and risk factors for developing pancreatitis. They include:

  • Being male
  • Being African American
  • Having a family history of pancreatitis
  • Having a personal or family history of gallstones
  • Smoking
  • Heavy alcohol use

Causes of pancreatitis include:

  • Gallstones
  • High triglycerides
  • Genetic disorders
  • Cystic fibrosis
  • Traumatic injury to the pancreas
  • Certain medications
  • Heavy alcohol use
  • Pancreatic cancer

While these factors may increase the likelihood that a person will develop pancreatitis, not all individuals with these risk factors will develop pancreatitis.

What Are the Symptoms of Pancreatitis?

Understanding and documenting the symptoms are an essential step to diagnose pancreatitis. Symptoms of pancreatitis vary widely between individuals and differ between acute and chronic forms of pancreatitis. People with acute pancreatitis usually experience episodes of:

  • Sudden severe upper abdominal pain that may radiate to your back or feel worse after eating
  • Fever
  • Nausea
  • Vomiting
  • Abdominal tenderness

People with chronic pancreatitis usually experience:

  • Upper abdominal pain, which may be constant or episodic
  • Unintentional weight loss
  • Oily, smelly stools that may or may not be diarrhea

How Do Genes Affect A Person’s Risk For Pancreatitis?

The medical community has made a great deal of progress when it comes to identifying risk factors for pancreatitis. Still, about three out of 10 cases of pancreatitis are unexplained, i.e. idiopathic, even after traditional diagnostic methods. Genetic variants can play an essential role in the development of developing pancreatitis, but they’re often overlooked.

After many years of research, experts in the medical community have acknowledged the connection between pancreatitis and genetics. Genetic variants, now accepted as a known risk factor, are helping more patients and physicians understand why patients have been diagnosed with pancreatitis. Genetic variants, just like environmental and other risk factors, can contribute to increased risk of pancreatitis. In fact, most patients with pancreatitis have both environmental and genetic contributions to their disease.

Several environmental risk factors, such as alcohol, tobacco and diet are readily identifiable. However, these factors may not completely explain why a person has developed pancreatitis. Genetic testing is the only way to identify genetic variants that may be contributing to a person’s risk for pancreatitis. Furthermore, genetic testing early in the diagnostic process can save patients from undergoing many difficult tests that may not be useful.

In rare cases, individuals and families with pancreatitis may have a disease-causing variant in a single gene that causes a monogenic disorder. For example, genetic variants in PRSS1 can cause hereditary pancreatitis, a highly penetrant, autosomal dominant disease characterized by onset of pancreatitis in childhood or adolescence. However, most individuals with pancreatitis do not carry harmful variants in the PRSS1 gene, and single-gene disorders are a rare cause of pancreatitis.

Instead, patients often carry multiple, low-to-moderate impact genetic variants that may influence disease development and progression. When these genetic variants interact with other genetic variants, the risk of pancreatitis may increase. The same phenomenon may occur when pancreatic genetic variants are coupled with environmental and other risk factors.

Dr. David C. Whitcomb is an internationally recognized physician-scientist specializing in pancreatic disease who discovered that PRSS1 variants can cause hereditary pancreatitis in 1996. Dr. Whitcomb believes genetics used in traditional medicine, like the kind used to diagnose and treat pancreatitis, has several limitations, including:

  • Limited insight into patient management
  • Few tools for physicians to apply complex genetics to clinical practice
  • Genetic reports prepared by classic geneticists or pathologists with a Mendelian framework

Genetic reports prepared by classic geneticists or pathologists with a Mendelian framework. Diagnosis for complex diseases such as pancreatitis is typically made by combining symptoms, physical exam findings, and related lab results and diagnostic imaging. Patients are diagnosed and treated using evidence-based practice.

The problem with this approach is that while symptoms are treated, the underlying cause is often unknown and unaddressed. This leaves many questions unanswered and can lead to misdiagnosis, recurrence and continued disease progression.

The bottom line, traditional medicine is designed for diseases caused by Mendelian single-gene disorders. Medical teams just don’t have the right tools to prevent complex diseases from becoming worse. But precision medicine, guided by comprehensive genetic testing, works to understand all these variables to intervene before the condition becomes chronic.

Complex diseases, like pancreatitis, are caused by the interaction of multiple genetic, environmental and other factors, which can vary significantly across individuals and are hard to detect early enough to prevent further progression. With genetic testing and precision medicine, pancreatitis outcomes may improve considerably.

For more information about using genetic testing as a diagnostic tool for pancreatitis, watch this discussion between Dr. Whitcomb and Dr. Mark Haupt, Ariel’s Chief Medical Officer.

Is Early Detection of Pancreatitis Possible?

After reading the list of pancreatitis symptoms, you may observe that this condition’s signs are similar to countless others. Because pancreatitis symptoms are so frequently attributed to other diseases, early detection is difficult but not impossible.

The ADVANCE® Precision Medicine Platform is a clinical decision support platform that aids in diagnosing and personalized management strategies at the earliest signs of pancreatic disease. ADVANCE® integrates each individual’s genetics, environment, and family and medical history to provide clinicians more actionable insights into complex conditions, including evidence-based recommendations for management and treatment options.

Ariel’s artificial intelligence-powered technology combines deep genetic sequencing with advanced analytics and evidence-based expert knowledge to provide genetic testing and a report that’s actionable and easy to use.

When Should You See a Doctor for Pancreatitis?

When to see a doctor is a common question for individuals with abdominal pain. You know your body best, and if your abdominal pain is concerning to you, you should visit your doctor. If you have any of the following symptoms, or any others that are concerning to you, you should seek immediate medical care.

  • Vomiting blood
  • Tarry or bloody stools
  • Pain extending beyond your abdomen to your chest, shoulder or jaw
  • Shortness of breath
  • The abdomen is significantly distended or is very tender
  • Inability to keep fluids down for 24 hours
  • Fever
  • Severe pain
  • Yellow skin
  • Inability to have a bowel movement
  • You’re pregnant, have cancer or have had a recent trauma
  • If you have any of the following symptoms, you should see your doctor.
  • Mild but recurrent pain
  • Pain that wakes you up at night
  • Pain and bloating lasting more than two days
  • Burning or pain with urination
  • Dull pain lasting more than a week
  • Pain causing poor appetite or weight loss

Trust your gut, literally, and get medical treatment when you think you need it. When you do, ask your provider about engaging a precision medicine approach to help diagnose and manage your condition. If indicated, your physician may order genetic sequencing to get a more accurate picture of your predisposition to pancreatitis, leading to a more precise and early diagnosis in some cases.

What Treatment Options are Available for Pancreatitis?

Management and treatment of pancreatitis is focused on pain relief, improvement of pancreatic function and management of complications. If indicated, your physician may consider one or more of the following:

Medications & Vitamins: You may need additional vitamins if you have trouble 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 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. Your doctor may also suggest a nerve block for pain management if needed. Some patients who don’t improve with other treatments may be eligible to have their pancreas removed. In eligible, younger patients, removal of the pancreas may be followed by islet cell auto-transplantation to help preserve some of the ability to regulate blood sugar.

What are the Complications of Pancreatitis?

Individuals with pancreatitis are at risk to develop several complications, especially when left untreated. Complications and outcomes of pancreatitis vary widely between patients and depend on whether the pancreatitis is acute or chronic. Genetics also plays a crucial role in the risk of complications.

Acute pancreatitis can become complicated by or lead to:

  • Infection
  • Kidney failure
  • Fluid-filled sacs in the pancreas (pseudocysts) capable of rupturing, among other complications

Chronic Pancreatitis and in some cases, recurrent acute pancreatitis, can become complicated by or lead to:

Type 3c Diabetes Mellitus: Pancreatic damage reduces production of insulin and other hormones that regulate blood sugar.

Malnutrition and pancreatic exocrine insufficiency: Damage to the pancreas may reduce the number of enzymes your body produces. Doctors can treat this with oral pancreatic enzyme replacement therapy.

Pancreatic Cancer: A result of sustained, long-term pancreatic inflammation.

Are Children at Risk of Getting Pancreatitis?

When a child experiences fever, nausea, vomiting and persistent stomach pains, most parents and doctors chalk it up to a 24-hour bug. But there’s another issue causing remarkably similar symptoms, and it’s often overlooked: pediatric pancreatitis.

Pancreatitis isn’t often considered in children with GI symptoms — primarily because it’s usually linked to alcohol or gallstones (representing about 70 to 80% of adult cases). But while pediatric pancreatitis is rarer than pancreatitis in adults, it’s not as uncommon as you might expect.

What Are Other Common Pancreatic Diseases?

The pancreas can be afflicted by conditions other than pancreatitis. Many of these conditions can be caused by or may lead to pancreatitis and present with similar symptoms. In many cases, pancreatic diseases are also a result of a patient’s genetic makeup. Here are a few of the most common pancreatic diseases:

Exocrine pancreatic insufficiency (EPI)
EPI occurs when the pancreas doesn’t produce enough of enzymes used to digest food in the small intestine. Symptoms of EPI include loss of appetite, severe abdominal pain, a feeling of fullness, weight loss and diarrhea.

A few conditions that can lead to EPI include:

  • Chronic pancreatitis
  • Genetic disorders (such as cystic fibrosis or Shwachman-Diamond Syndrome)
  • Surgeries on the stomach, pancreas or small intestine
  • Type 1 diabetes (insulin-dependent)

Because individuals with EPI don’t produce enough digestive enzymes, patients may suffer malabsorption of necessary nutrients, which leads to weight loss and malnutrition. Treatment often includes a dietary plan, supplements and enzyme replacement therapy.

Pancreatic Cancer
Pancreatic cancer is an aggressive cancer known for being resistant to many standard life-saving cancer treatments, like chemotherapy and radiation therapy. Cancer of the pancreas is typically diagnosed in advanced stages of the disease and only rarely causes troubling symptoms during the early stages.

One of the most common symptoms is painless jaundice, which causes yellowing of the skin, and patients usually have abdominal pain. Early detection is critical to successful treatment. If the diagnosis is early enough, a portion of the organ can be removed as treatment.

What to Do if You Have Pancreatitis?

If you or a loved one has been recently diagnosed with pancreatitis, you may feel a bit lost, scared, or confused. Every case is unique, but most are manageable with a thorough plan from your care team and patient follow-through. Here are a few of the basics to reduce pancreatitis’ impact on your daily life.
Assemble the right clinical care team

Typically, pancreatitis patients are cared for by a pancreatologist or doctor specializing in pancreatic disease, who understands this disorder’s intricacies. If you do not currently see a specialist but would like to, it helps to come prepared.

If this is the first time with a new doctor, contact your current primary care physician to collect information about your medical and family history to share with your specialist. Alternatively, the specialist’s office may ask you to sign a release of medical records, so have them before your visit. If you’re nervous about your appointment, ask a trusted friend or family member to go with you for support during the process.

Manage your diet
Nutrition is an integral part of your pancreatitis care plan, and your doctor may recommend changes to your diet. Your physician may also refer you to a registered dietician. Dietary changes to manage pancreatitis will help make up for nutritional deficiencies, reduce pain and may lessen the frequency of pancreatitis episodes.

In most cases, your doctor or dietician will recommend a low-fat diet, but this may require you to prepare meals from home. Making everything from scratch is difficult if it isn’t part of your routine. If you fall into this category, check out the National Pancreas Foundation’s (NPF) pancreatitis cookbook. You can also try reducing portions to lower the digestive burden on your pancreas.

If you have chronic pancreatitis, you may develop EPI. If that’s the case, your attention to diet and necessary vitamin and enzyme supplementation may also prevent negative long-term health consequences of nutritional deficiencies, such as osteopenia or osteoporosis. Talk to your doctor if you continue to have unexplained weight loss, oily/fatty stools, or digestion issues.

Abstaining from alcohol and tobacco
Alcohol and tobacco are known causes and amplifiers of acute pancreatitis attacks. Stop using alcohol and tobacco products to prevent disease progression and painful symptoms. If you’re struggling to remove alcohol and tobacco from your routine, talk to your physician for resources to support you as you make an effort to reduce the amount you drink or smoke.

Manage your pain
Pain associated with pancreatitis manifests itself differently in each patient. Your pain may range from nonexistent to severe, be episodic or continuous, and it may change with disease progression.

If you have recurrent acute pancreatitis or chronic pancreatitis, you may find creating a log or journal helpful to track your pain level each day. In doing so, you might identify a particular food or activity causing your pancreatitis to “flare up.” Your doctor can also use this information to make you more comfortable during an attack.

Seek mental health care
A new pancreatitis diagnosis can be challenging to handle, even beyond the physical symptoms of the disease. It’s normal to feel temporarily sad or discouraged if you’re managing pain, adapting to changes in your life due to chronic illness, or facing uncertainty. If you have these feelings, talk to your doctor.

Many mental health conditions, like depression, are treatable. If you want to connect with others who’ve experienced pancreatitis, think about joining a patient support group where you can exchange personal experiences and ask questions about the condition.

If your condition has impacted your personal or professional life, talk to a therapist about balancing your health and relationships. A career coach, particularly one specializing in chronic disease, can provide guidance and support for working with your employer or exploring alternative career options.

If you think you may have depression or have thoughts about harming yourself or others, please seek immediate medical help.

Consider Precision Medicine
If you’ve been recently diagnosed with pancreatitis, or think you have pancreatitis, you should speak with your provider about a precision medicine-approach to your diagnosis and treatment. Precision medicine is a personalized approach to disease treatment and prevention that incorporates an individual’s genetic, environmental and lifestyle factors.

Most patients with a complex, chronic disorder, such as pancreatitis, don’t have a single cause for their disease. But we know each patient has a unique combination of genetic and environmental risk factors. A precision medicine approach is used to analyze each patient’s genetic data with their medical history and current symptoms to provide a comprehensive view of the factors contributing to a disease.

Ariel Precision Medicine works with patients and providers to analyze each patient’s underlying risk factors with their unparalleled genetic testing suite. Findings are prepared in an easy-to-understand report that includes genetic and evidence-based guidelines individualized to each patient. In some cases, it includes actionable steps the provider and patient can take to improve management of the patient’s disease.

If you want to learn more about this process and how it can transform your health, visit our website or call 844-MYARIEL (692-7435).

Even though you’ve been thrust into new territory with your diagnosis, take comfort in the many resources you can lean on for support. You can try out new recipes to share with family and friends. You can build relationships with fellow patients and gain a better understanding of living with pancreatitis. Or you could try something new and work with your healthcare provider to pursue a precision medicine approach to diagnosis and treatment. Pancreatitis doesn’t have to define you.

The best way to prevent severe pancreatitis is early detection. Because pancreatic disease may be genetic, undergoing genetic testing is a pathway to early, effective diagnosis and treatment. In some cases, genetic testing can also help care teams develop highly personalized and more effective treatment plans.

Pancreatitis can be progressive, so the sooner your doctor identifies the cause, the better. When pancreatitis is left untreated, it can cause severe damage, and acute cases can become chronic. If you have questions about pancreatitis or suspect you may have this condition, consult with your doctor or healthcare provider. If you’re experiencing severe, sudden onset abdominal pain, seek emergency medical assistance.

Pancreatitis will change your life, but it doesn’t have to make you live life any less. Visit our website for more information about how precision medicine and genetic testing can positively impact diagnosing and treating pancreatitis.

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