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Cystic Fibrosis

Is it possible?

12/20/2007

Question:

Is it possible to be an adult with CF and not know it? My youngest daughter displayed symptoms of CF as a child,(frequent lung infections, unusually large bowel movements , sinus and allergy symptoms)and was diagnosed with Asthma. The symptoms were so frequent and troublesome that I actually questioned the pediatrition about CF at the time. She is basically healthy as an adult but still has ocassional asthma and sinus symptoms that require medical care and inhaler. I have since learned my oldest daughter has the carrier CF gene. Is this something that my youngest daughter should share with her physician during her next eppisode with a lung infection?

Answer:

It is, in fact, not only possible but even fairly common that adults are diagnosed as having CF. This is usually in the setting of a long history of allergies, sinus infections, asthma or chronic bronchitis. Often their symptoms have been fairly mild and gradually worsen over time. Eventually an astute clinician, sometimes at the urging of a persistent patient or relative, will make the diagnosis, with sweat testing or genetic testing. Since there is at least one carrier gene in the family further testing of your daughter is appropriate.

That said, testing of most adults with symptoms suggestive of CF shows that they don't actually have the disease. However, it is very important that, if your daughter does have CF, she receive appropriate treatment, at a certified CF center. As such, it is better to be certain, and would suggest that your daughter not wait until her next lung or sinus infection to bring this up with her doctor.

If her doctor is uncertain or dismissive, I would suggest that she contact a pulmonologist or CF specialist to discuss it. Sweat testing should be done at a Cystic Fibrosis Foundation accredited site, and genetic testing should be interpreted by someone practiced in that, as results can be inaccurate, if poorly done or incorrectly interpreted.

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Response by:

John S Heintz, MD John S Heintz, MD
Former Clinical Assistant Professor of Pediatrics
College of Medicine
The Ohio State University