Rare Disease Education: Exocrine Pancreatic Insufficiency
Editor: Kelsey LaFayette, DNP, RN, FNP-C
"When you hear hoofbeats, think of horses, not zebras,” is a common saying in medical education that means you should think of common conditions first, instead of rare ones, in making a diagnosis. “Rare” is a relative term though and about 7,000 rare, or "zebra," conditions affect more than 350 million individuals worldwide. Although these conditions collectively affect an enormous number of people, each of these conditions individually is rare enough that it can be difficult to secure the resources to study them and to develop treatments and cures. Likewise, awareness of rare conditions may be low and health care professionals may not be familiar with their signs and symptoms making it more difficult to reach a correct diagnosis and provide effective treatments.
To increase knowledge about rare conditions, Osmosis and the National Organization for Rare Diseases (NORD) have collaborated on an initiative to bring education and awareness to the public. We are excited to be a part of this initiative because we believe everyone deserves quality health care, no matter how rare their condition.
Zebra of the Week: Exocrine Pancreatic Insufficiency
When furniture is brought into a new home and must pass through narrow doorways, it’s usually broken down into smaller parts first to facilitate passage through the doorway. There are specific tools that are needed to break down the furniture, and if these tools were missing, the furniture would be stuck outside the home. This is similar to what happens in this month’s Zebra, exocrine pancreatic insufficiency.
Exocrine pancreatic insufficiency is an under-diagnosed condition in which there are not enough pancreatic enzymes released into the gastrointestinal (GI) tract to properly break down large nutrients into the smaller ones that can be absorbed and used by the rest of the body. Just like the furniture in the above example, nutrients get stuck in their large form in the GI tract, unable to be used. The main causes of exocrine pancreatic insufficiency are chronic pancreatitis in adults and cystic fibrosis in children, but many other issues can lead to it, including pancreatic tumors, diabetes, inflammatory bowel disease, and bariatric surgery to name a few.
The exact prevalence of exocrine pancreatic insufficiency is unknown. The signs and symptoms can vary but are caused by maldigestion and malabsorption. They include steatorrhea (fatty stools), abdominal discomfort, bloating, and involuntary weight loss. If left unaddressed, malnutrition, vitamin deficiencies, metabolic bone disease, muscle spasms, and decreased immune function can evolve.
Thankfully, enzyme replacement therapy can provide an outside source of the needed tools for nutrient breakdown, thus partially replacing the exocrine function of the pancreas.
To learn more about the diagnosis and treatment of exocrine pancreatic insufficiency, watch the dedicated Osmosis video on YouTube and Osmosis.org.
Meet Jack
After struggling with various GI issues most of his life, Brian Kennedy, an Elsevier colleague, was diagnosed several years ago with exocrine pancreatic insufficiency (EPI), a rare disorder that prevents the pancreas from playing its proper role in aiding digestion. At the same time, he was told he had MALS, another rare condition, that interferes with blood flow in the abdomen. Both of these disorders can cause chronic pain in addition to a host of other difficult symptoms.
While it was a relief to finally have answers, Brian says it also sparked a long period of grief. “You start to realize your life is not going to go back to the way you had it, but you just have to accept it and then you sort of think about the things I can do and focus on those and not the things that I can't do anymore,” he tells host Michael Carrese.
That shift in perspective and connecting with a community of other EPI and MALS patients has helped Brian to stay as positive as possible and focus on being as healthy as he can under the circumstances.
Listen in to learn about these challenging diseases, the therapy that is helping Brian eat without debilitating pain, and his advice to providers about dealing with rare disease patients.
