Most patients with CF have respiratory and GI problems. There are patients, however, without the usual features of CF who are described as having “atypical” or “non-classic” CF. These patients may have a positive or borderline sweat test. They may have only one or no known CFTR mutation, instead of the two mutations seen in most CF patients. Symptoms of atypical CF may include chronic sinus disease and nasal polyps, pancreatitis, and in males, infertility. Patients with atypical CF presentations usually do not have pancreatic insufficiency and they are typically diagnosed at an older age.Chronic Sinus Disease
The sinuses are affected in almost all CF patients. CT scans of the sinuses almost always show abnormalities suggesting that the sinuses are filled with mucus or pus rather than air. Recurrent sinus infections can be a sign of CF, especially if caused by certain bacteria such as Pseudomonas aeruginosa. The mucosa, or lining, of the nasal passages in CF patients is often very red and swollen. Nasal polyps may develop in this inflamed nasal mucosa. Symptoms of nasal polyps may include stuffy nose, mouth breathing, snoring, nasal pain, change in voice, distortion or widening of the nasal bridge, or nose bleeds. Because nasal polyps are uncommon in healthy individuals, patients with nasal polyps should be tested for CF. Pancreatitis
Acute pancreatitis has been reported in about 15 percent of CF patients. Symptoms include severe abdominal pain and vomiting. These patients may or may not have chronic pulmonary symptoms. Patients with pancreatitis typically produce adequate pancreatic enzymes and are not affected by malabsorption or failure to thrive. Congenital Bilateral Absence of the Vas Deferens (CBAVD)
Congenital bilateral absence of the vas deferens (CBAVD) leads to the absence of sperm (azoospermia) in males with CF. Almost 100 percent of post-pubertal males with CF have azoospermia, leading to infertility. Some men with CBAVD have no other features of CF – they have normal lungs and pancreatic function. These individuals may have normal, intermediate, or elevated sweat chloride concentrations. These patients should be monitored for the development of other CF-related complications.
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