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Wednesday, December 4, 2013
My mom is 62 and doctor says she has CF
My mom was just told she has CF, she is 62. She has been complaining of sore joints and arms lately. She has diarareha alot as well. I always thought it was IBS. How can the doctor say she has CF without any formal testing?
Although it is unusual to make a diagnosis of cystic fibrosis late in life, it is not impossible. Patients are living longer with the disease and patients with mild disease, sometimes referred to as "non-classical CF", may have very mild symptoms. As a result the diagnosis may be missed.
This diagnosis cannot be made without testing. The diagnosis of CF requires two parts:
First there must be evidence of the disease. The symptoms may be mild and may include lung disease, digestive problems (such as the diarrhea), recurrent sinus problems, male infertility, or even clubbing of the fingers.
Second, there must be evidence of abnormal chloride transport. The defective gene in CF is a chloride transport protein and there must be evidence that this does not work correctly. Three tests are recognized:
1. The sweat chloride is the most common test, but to assure that it is performed correctly, it should be done at a CF Foundation (CFF) certified lab in an accredited CF Care Center. You can locate a CF Care Center near you through www.cff.org.
2. Genetic testing that shows 2 mutations in the CF gene that have been associated with the disease. Several companies offer genetic testing. Often in non-classical CF, an expanded panel that tests for 1000 mutations may be necessary to detect uncommon mutations. In rare instances, gene sequencing may be required.
3. Nasal potential difference is a test only available in a handful of specialized CF centers. This study measures the natural electrical current through the cells lining the nose. The area if flushed with solutions that open and close several chloride and sodium channels in these cells. Patients with CF have an unique pattern that can help diagnose CF. This test is not generally available and had been mostly reserved for research purposes, but can be useful in some difficult diagnoses.
For patients who have CF, specialized care through a CFF accredited CF Care Center is recommended. Most CF Care Centers have an associated Adult CF Program that specializes in the care of adults with CF. Again, you may locate a CF Care Center and adult program near you through www.cff.org.
Patricia Joseph, MS, MD
Associate Professor of Medicine
College of Medicine
University of Cincinnati