May is a busy month for health awareness observations. Throughout the month, we’ve covered topics related to stroke, women’s health and mental health awareness. As we near the end of May, which is also Cystic Fibrosis Awareness Month, we’ll learn about this condition that is diagnosed in about 1,000 Americans each year.
Cystic fibrosis (CF) is a genetic disorder that affects the CTFR protein, which has a critical function in regulating the balance of salt and water in the body. Mutations in this protein cause the body to produce thick, sticky mucus that can clog airways and trap bacteria.
The lifelong condition is often associated with the lungs, but it is a progressive disorder that can affect nearly every system in the body as we age. Symptoms and complications can worsen over time if CF is not properly monitored and treated, but early detection of complications in organs other than the lungs can significantly improve quality of life.
CF is passed on through both parents, since you’d have to inherit two compromised CTFR genes – one from each parent – to have the condition.
The most recognized CF complications occur in the lungs where thick mucus begins to accumulate early in life, before symptoms can be observed. This mucus is difficult to clear and damaging over time. It also traps bacteria, which leads to chronic inflammation and frequent lung infections, which can be severe and increase risk for lasting damage.
Recurring infection can scar the lungs, reducing airway elasticity and lung function, which becomes more difficult to reverse as CF progresses. A common complication of CF, bronchiectasis is a condition where the airways become abnormally widened, which weakens the lungs and gradually reduces their function. Other worrisome complications include coughing up blood, collapsed lungs, advanced lung disease and respiratory failure.
To prevent lung damage from CF, routine lung function tests are necessary to monitor progression. Combined with regular exercise, lung clearing techniques and appropriate use of antibiotics, this monitoring can help preserve lung health for as long as possible.
Recent advancements in medicine are helping many CF patients with specific CFTR mutations. Those who are eligible for CFTR modulator therapies can have lung function restored by correcting the dysfunctional protein made by the CFTR gene.
Beyond the lungs, CF can also affect the pancreas, liver, intestines, kidneys, sinuses, ears and bones. Damage to these organs can lead to serious complications such as pancreatic insufficiency, pancreatitis, CF-related diabetes, fatty liver disease, hepatitis, cirrhosis, chronic constipation, acute intestinal issues, increased risk of colorectal cancer, kidney stones, chronic sinus infections, nasal polyps, hearing loss and osteoporosis.
A few decades ago, CF patients were not expected to make it to adulthood, but CF patients today are living longer, fuller lives than ever before with most reaching adulthood and many older age.
Staying healthy and warding off complications takes management, routine screenings and, ideally, the guidance of a multi-specialty care team at an accredited CF care center. Ongoing CF research enables the development of more modes of therapy to help people with CF live well.
Dr. Alfred Casale, a cardiothoracic surgeon, is chief medical officer for surgical services for Geisinger and chair of the Geisinger Heart and Vascular Institute. Readers may write to him via [email protected].
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