E84.1: Cystic fibrosis with intestinal manifestations

You have cystic fibrosis.

With cystic fibrosis, the genetic information for a particular protein is changed. When beginning its development, every single cell in the body contains a complete blueprint of the body. This blueprint consists of genetic information. The genetic information is encrypted in the chromosomes. Every human cell normally contains 23 chromosome pairs, i.e. a total of 46 chromosomes. Cystic fibrosis can be hereditary. Family members can also be affected.

When the genetic information changes, that particular protein does not work properly. The body needs the protein to produce certain fluids. If the protein does not work properly the phlegm in the lungs and intestine or the pancreatic juice can become very viscous, for example. This can cause organs to get blocked and damaged. Because of the cystic fibrosis you are having problems with your intestines.

You can have problems with your digestion. This may be because the pancreas is not working properly because of the viscous pancreatic juice. The pancreas is located in the upper abdomen. It regulates the sugar content in the blood and forms substances for digestion, for example. When the pancreatic juice is very viscous, it is harder for these substances to get into the intestine. Food can then be harder to digest and more difficult to absorb through the intestinal mucosa. The intestinal mucosa itself may also be affected. The cells in the intestinal mucosa then produce viscous phlegm which they are unable to properly release into the intestines. The intestines are made up of the small intestine and the large intestine or colon. Most of the nutrients are absorbed in the small intestine. The large intestine (colon) is where water and salt are withdrawn from the stool. The last segment of the large intestine (colon) is the rectum. Stool then leaves the body through the anus.

When the pancreas and the intestinal mucosa are not working well, the intestine is unable to properly absorb nutrients. This can cause very greasy diarrhea, for example, and lead to weight loss. Stool that has not been properly digested can block the intestines. That can occur at the junction of the small intestine and large intestine, for example. This can cause severe abdominal pain.

You may only have a few symptoms or be very sick. That depends on how much of the altered protein you have.