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Cystic Fibrosis

Mild Case of Cystic Fibrosis?

01/08/2010

Question:

Since I was around the age of 9, I have had problems with shortness of breath. It seems like I can`t get rid of respiratory infections, whether it is a sinus infection, bronchitis, or even pneumonia. I am now 20 years old, and about 7 months ago, I started having sharp stomach pains in my left lower abdomen. Accompanied with this pain, I have experienced extreme nausea and on occasion, projectile vomiting. I have had numerous studies regarding my digestive system- including a colonoscopy and a UGI with small bowel follow through. These tests brought back fairly normal results, with the exception of persistant constipation (which was thought to be brought on by my diet). I have had a lot (10-15 mL at times) of rectal bleeding, which is bright red. The rectal bleeding usually occurs once every 3-4 weeks. I am now 4 months pregnant, and the problems persist. My gastoenterologist is completely baffled, and has recommended that we stop tests until after I give birth. Since he cannot find any life threatening issues within my digestive tract, he sees no harm in waiting this long. Since I have been pregnant, I have had numerous respiratory infections (bronchitis and pneumonia), which were treated with antibiotics. I am no longer taking any of the medications once prescribed to me for digestional related issues, due to my pregnancy. I am not overweight, and I do not smoke. I had a benign mediastinal mass removed from behind my heart when I was 2 years old. Otherwise, I have had no trauma related to my lungs or digestive system. My sister is a carrier for cystic fibrosis... Could I have a mild case of this disease?

Answer:

I'm sorry to hear about your difficulties. The gold standard for CF diagnosis remains 2 positive sweat chloride tests (a special skin test) done at a CERTIFIED CF TESTING CENTER - this is very important - and/or positive genetic testing done in the setting of symptoms consistent with CF. Both of these things can be done while pregnant and may be important to your health during pregnancy and to the health of your baby. 

It seems to me that if the means to do the testing exists in your neck of the woods that it would be worth pursuing them to see if CF is an issue for you. While your symptoms are compatible with CF, they could represent many other kinds of problems as well, so confirmatory testing would be helpful. 

For more information:

Go to the Cystic Fibrosis health topic, where you can:

Response by:

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