Cystic fibrosis is a severe genetic disorder that causes serious damage to the digestive and respiratory systems. This resulting damage caused by cystic fibrosis is usually due to an accumulation of sticky and thick mucus in the organs. The most commonly affected organs in this condition are the lungs, pancreas, liver, and intestines. Normal mucus in the body should be thin and runny, which ensures that it does not stick to your organs. However, being sticky and thick, this mucus severely affects your lungs and the digestive system. People with cystic fibrosis develop breathing problems due to the mucus clogging their lungs. This also makes them particularly susceptible to various infections. At the same time, this thick mucus clogs up the pancreas, causing many people with cystic fibrosis to also develop a condition known as exocrine pancreatic insufficiency. Read on to find out more about the connection between exocrine pancreatic insufficiency and cystic fibrosis.
What is Cystic Fibrosis, its Causes, and Risk Factors?
Cystic fibrosis is a genetic condition that causes severe damage to your digestive and respiratory systems.(1,2) This severe damage is usually caused due to the buildup of sticky and thick mucus in the organs.(3,4) Cystic fibrosis tends to affect the lungs, pancreas, liver, and intestines the most. This disease is caused by a mutation or defect in the CFTR gene. This mutation causes the cells in the body to start making sticky and thick fluids. It is common for people with cystic fibrosis to get diagnosed at a young age.(5)
Cystic fibrosis is a genetic disease. This means that if your parents have this condition or if they carry this defective gene, you are at a greater risk of developing cystic fibrosis. However, a person with cystic fibrosis must inherit two sets of mutated genes, which means one gene from each parent.(6) If you only have one copy of this gene, you will not have the disease, but you will remain a carrier of the same. If two gene carriers have a child, there is a 25 percent chance that the child will end up being born with cystic fibrosis. There is also a 50 percent chance that the child will also be a carrier of the gene but not actually have the disease.(7,8)
It has also been observed that cystic fibrosis is more likely to affect people of Northern European descent.(9)
In people without cystic fibrosis, the mucus tends to be runny and thin, ensuring that it does not stick to your organs. However, in people with cystic fibrosis, the mucus clogs their lungs, causing breathing problems and increasing the risk of infections. The thick mucus also clogs the pancreas and prevents the release of digestive enzymes.
Due to this, it is estimated that around 90 percent of people with cystic fibrosis also go on to develop exocrine pancreatic insufficiency (EPI).(10)
Let us look at the connection between cystic fibrosis and exocrine pancreatic insufficiency.
What is the Connection Between Exocrine Pancreatic Insufficiency and Cystic Fibrosis?
Exocrine pancreatic insufficiency happens when the pancreas fails to make or deliver sufficient levels of pancreatic enzymes. These pancreatic enzymes are responsible for playing an important role in the digestive system. These enzymes help the digestive system break down the food you eat and helps in the absorption of the nutrients.
When there is a shortage of these pancreatic enzymes, it makes it challenging for the body to convert the food into forms that your digestive system can use.
The symptoms of exocrine pancreatic insufficiency are most noticeable when the production of the pancreatic enzyme that is responsible for breaking down fat and protein falls to 5 to 10 percent of what it normally should be. When this happens, you start experiencing the symptoms of exocrine pancreatic insufficiency.(11)
Exocrine pancreatic insufficiency is considered to be a major complication in people with cystic fibrosis. Cystic fibrosis has today become the second most common cause of exocrine pancreatic insufficiency, the first cause being chronic pancreatitis. This digestive condition happens because the thick mucus in the pancreas due to cystic fibrosis starts blocking the pancreatic enzymes from entering the small intestine.(12)
This lack of pancreatic enzymes means the digestive tract is unable to pass the partially undigested food, and it just sits there. People with exocrine pancreatic insufficiency anyway find it particularly challenging to digest fats and proteins.
This partially absorbed and half-digested food can cause the following symptoms:
Malnutrition since the nutrients are not getting digested and reaching the body.
So even if you are eating a normal amount of food, having cystic fibrosis can make it difficult to reach and maintain a healthy weight.(13)
Is There Any Treatment For Exocrine Pancreatic Insufficiency?
Following a healthy lifestyle and eating a well-balanced and nutritious diet can help you manage exocrine pancreatic insufficiency. This also involves restricting your intake of alcohol, quitting smoking, and including plenty of fresh fruits and vegetables, along with whole grains in your diet. most people with cystic fibrosis and exocrine pancreatic insufficiency are able to eat a standard diet that consists of 35 to 45 percent calories that are derived from fat.(14)
Treatment for exocrine pancreatic insufficiency also involves taking enzyme replacement with all of your meals and snacks. This helps improve your digestive system.
Supplement use can also help make up for the vitamins and minerals that this condition prevents your body from absorbing. If due to malnutrition, you are unable to maintain your weight at a healthy range, your doctor may also recommend that you use a feeding tube at night to prevent malnutrition due to exocrine pancreatic insufficiency.
Your doctor will continue to monitor your overall condition and pancreatic function throughout your treatment to ensure that there is no decline in your pancreatic function, as there is a possibility of this happening as your condition progresses. Regular monitoring will ensure that your condition remains manageable and there is a reduced risk of further damage to the pancreas.
In the earlier days, people with cystic fibrosis had very short life expectancies. Still, today with various advancements in treatment, nearly 80 percent of all people with cystic fibrosis end up living well into their adulthood. This is because of better knowledge about symptoms management and regular monitoring of their condition. So even if there is no cure for cystic fibrosis, there are still various treatments available that can help you live a better quality of life with the disease.
- FitzSimmons, S.C., 1993. The changing epidemiology of cystic fibrosis. The Journal of pediatrics, 122(1), pp.1-9.
- Knowles, M.R. and Durie, P.R., 2002. What is cystic fibrosis?.
- Collins, F.S., 1992. Cystic fibrosis: molecular biology and therapeutic implications. Science, 256(5058), pp.774-779.
- Quinton, P.M., 1999. Physiological basis of cystic fibrosis: a historical perspective. Physiological reviews, 79(1), pp.S3-S22.
- Rosenstein, B.J. and Cutting, G.R., 1998. The diagnosis of cystic fibrosis: a consensus statement. The Journal of pediatrics, 132(4), pp.589-595.
- Tsui, L.C., 1992. The spectrum of cystic fibrosis mutations. Trends in Genetics, 8(11), pp.392-398.
- Cff.org. 2020. About Cystic Fibrosis. [online] Available at: <https://www.cff.org/What-is-CF/About-Cystic-Fibrosis/> [Accessed 6 December 2020].
- Cutting, G.R., 2015. Cystic fibrosis genetics: from molecular understanding to clinical application. Nature Reviews Genetics, 16(1), pp.45-56.
- Estivill, X., Bancells, C. and Ramos, C., 1997. Geographic distribution and regional origin of 272 cystic fibrosis mutations in European populations. Human mutation, 10(2), pp.135-154.
- Clevelandclinicmeded.com. 2020. Disease Management Project – Missing Chapter. [online] Available at: <http://www.clevelandclinicmeded.com/medicalpubs/diseasemanagement/pulmonary/cystic-fibrosis/> [Accessed 6 December 2020].
- Keller, J. and Layer, P., 2015. Diagnosis of pancreatic exocrine insufficiency in chronic pancreatitis. Pancreapedia: The Exocrine Pancreas Knowledge Base.
- Tesarikova, P., Kunovsky, L., Trna, J., Dite, P., Jabandziev, P., Vaculova, J. and Kala, Z., Cystic fibrosis and exocrine pancreatic insufficiency.
- Trna, J., 2019. Cystic fibrosis and exocrine pancreatic insufficiency. Gastroenterologie a hepatologie, 73(4).
- Clevelandclinicmeded.com. 2020. Disease Management Project – Missing Chapter. [online] Available at: <http://www.clevelandclinicmeded.com/medicalpubs/diseasemanagement/pulmonary/cystic-fibrosis/> [Accessed 7 December 2020].