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Thursday, December 5, 2013
Possible late CF diagnosis?
I am a 22 year old male (5’10” - 190 lbs.), living in VA. I was diagnosed with Crohn`s disease/ colitis, acid reflux, and mthfr gene mutation when i was 16 years old. I am an athlete (football, etc.), and find myself having to battle to maintain my weight and physical abilities (such as endurance and physical strength). i think this is mostly do to my colitis/ crohns. for the past 2-3 years i have had difficulty breathing, a persistent cough with mucus, and difficulty breathing out of my nose. There has only been trace amounts of blood on 4 or 5 occasions, but a chest x-ray didn’t show anything. In addition, whenever I train (especially running), I often tire quickly and throw up due to gaging on my own phlegm, even though I have been training hard for 8 years now and have played sports all my life (since I was 3). I also find myself swallowing often in order to clear mucus that feels like it is sticking in the back of my throat and yawn in order to try to get a good breath. Lately, I have been especially fatigued and feel like I`m having a hard time breathing and minor chest pain, even though my colitis is under control. I have been to an allergist and do not have any allergies, and I was diagnosed (poorly) with asthma and was taking advair and albuterol with no positive effect. I’m confident that I don’t actually have asthma. I also suffer from eczema, especially in the winter and sweat a lot all even when I shouldn’t be. In your opinion, can I somehow have cystic fibrosis that was overlooked since i wasnt diagnosed in infancy? I have never brought this idea up with a doctor. Please let me know what you think. Thanks!
The symptoms presented here could be attributed to a variety of causes. Certainly there are some symptoms consistent with cystic fibrosis. Cough, sputum production, and gastrointestinal issues are common. Patients with CF who are diagnosed later in life often have more subtle or atypical symptoms that can overlap with asthma and other pulmonary conditions.
A normal chest x-ray is not typical for CF. However, the classic changes of bronchiectasis, the common lung injury from CF, may not show up on chest x-ray at first. A high resolution CT scan is more effective at detecting early changes.
There are several pulmonary diseases that can cause some of these symptoms. Bronchiectaisis can have several causes, and is reported as an uncommon complication of Crohn's disease. Bronchiectasis may produce symptoms similar to CF: cough, sputum production, shortness of breath, chest pain, and blood in sputum.
Other lung diseases have also been shown to cause bronchiectasis. Asthma can cause some of the noted symptoms but may require further testing to confirm the diagnosis. Pulmonary function testing would be useful. If the diagnosis of asthma is in question, a methcholine challenge test may help clarify the diagnosis.
I suggest a complete evaluation by a pulmonologist, preferably someone with experience treating bronchiectasis. You may find the evaluation you need is best performed through an Adult CF Program. The Cystic Fibrosis Foundation website, http://www.cff.org/, has a list of accredited Adult CF Care Centers throughout the country. Here a physician may evaluate you for CF as well as for bronchiectasis, asthma, and other potential causes for your symptoms.
Patricia Joseph, MS, MD
Associate Professor of Medicine
College of Medicine
University of Cincinnati