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Cystic Fibrosis

Specific colipase deficiency



My 4YO was diagnosed with a specific colipase deficiency 2 years ago after chronic bouts of near constant yellow, oily, frothy diarrhea combined with poor growth and weight loss. She takes Lipram with every meal and snack and it has helped significantly.

It seems that I keep running into people who see what she is taking and immediately assume she has CF. She does not have any respiratory symptoms (other than mild allergies) and has not been formally tested for CF, to my knowledge, but I keep getting told stories of people who had an atypical presentation or were not diagnosed until they were much older.

Is it worth pressing the issue and getting her tested, or should I just be glad that the medication is helping with her current symptoms, and leave well enough alone?

Thank you for your assistance.


I belive the simple answer is to talk with your doctor and ask this question. I am not an expert in pancreatic disorders but pancreatic insufficiency is certainly a symptom, and sometimes a presenting factor, for cystic fibrosis.

A sweat test is an easy and painless test to obtain and will most likely give a definitive answer when combined with genetic testing. I do recommend that these tests should be done at a lab associated with an accredited CF center.

I get the feeling from your question that you have thought about this more than once. If you are from a state that has CF on the newborn screen, this may have been tested for already so I would discuss this openly with your primary doctor or the specialist who made the diagnosis in your daughter. We are learning more each year that there are many atypical patients with CF who do not fit into a classical diagnostic scheme.

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Response by:

Richard D Shell, MD
Clinical Associate Professor of Pediatrics
College of Medicine
The Ohio State University