Pancreatic insufficiency

Question

My son was diagnosed with CF 10 years ago. He is now 19 years old and he is doing well, without any major problems. Not long ago he started complaining about belly aches after meals, he has loose stools every morning and once a week morning diarrhea. He is not on pancreatic enzymes, because the doctors told us he does not suffer from pancreatic insufficiency. Recently we did a pancreatic echo and lipase and amylase tests, and all were normal. Is it possible for a person with no pancreatic insufficiency and incidents of pancreatitis to acquire such problems with time?

Answer

Dear friend,
Your son is 19 years old and he was diagnosed with cystic fibrosis (CF) with pancreatic sufficiency (PS) ten years ago (he does not receive enzymes).
You report that since some time ago he complains about belly ache immediately after meals, loose stools in the morning, and that once a week he has morning diarrhea.
Before I answer your question, I stress that I would like to know the genotype of your son. Since pancreatic function is connected to the genotype, the presence of mild mutations (of groups IV-VI) means that the CFTR protein is present on the surface of the cell membrane with only a concurrent disturbance of its function.
Most patients with CF have pancreatic insufficiency (PI) and they carry mutations of the groups I-III. A small percentage of patients (10-15%), however, carry mild mutations and have pancreatic sufficiency (PS).
There is a third, very small group of patients, who initially have PS, but with time develop PI.
You doctor will clarify if the reported symptoms are due to PI, or an intestinal infection or disease.
The most important investigation here will be the test of pancreatic elastase in the stool in order to see the amount of enzymes produced by the pancreas.
Yours friendly,
Dr. Stavros Doudounakis

14.12.2015