Everything You Need To Know About Atypical Cystic Fibrosis

Atypical cystic fibrosis is a less severe type of cystic fibrosis disease caused by a rare genetic mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) gene, according to a 2012 study published in Canadian Family Physician. The study reveals that people posing symptoms of atypical cystic fibrosis have fewer instances of hospitalization during childhood and it's also possible that the disease could remain undetected for several years. 

A key difference between cystic fibrosis and atypical cystic fibrosis is that the latter usually affects just one organ, while the former impacts various body systems. Another major distinction between the two is the intensity of symptoms, reports a 2010 study from The Journal of Family Practice. Scientists reveal that people with cystic fibrosis usually only lived for about 20 years in the past. Whereas atypical cystic fibrosis patients are known to have longer lifespans due to the less severe symptoms of the disease.

So far, there is limited research on atypical cystic fibrosis, primarily due to its rarity. While the diagnosis of classic cystic fibrosis is easier because of its evident symptoms and positive sweat test, the results for atypical forms are usually tricky, per a 2008 study published in the Journal of Cystic Fibrosis. In fact, sweat tests performed on atypical cystic fibrosis patients generally show borderline or normal results. Additionally, scientists found that diagnosis is only possible through follow-ups and examination of symptoms. 

From the data available, it's clear that atypical cystic fibrosis commonly attacks just one organ at a time. According to a study from 2012, atypical cystic fibrosis may show symptoms in certain systems, such as respiratory, gastrointestinal, or endocrine. Some of the most common signs of atypical cystic fibrosis are recurring pneumonia, chronic sinusitis, nasal polyposis, diabetes, and nutritional deficiencies, among others. Fortunately, a 2020 research in Cureus reported that genetic testing could be viable and helpful in confirming the atypical cystic fibrosis diagnosis in clinical processes.