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We've written about respiratory infections and other lung conditions before, but many of our previous topics have been about seasonal illnesses. Sicknesses like influenza are potentially dangerous, but mostly so in those with developing or compromised immune systems, like younger children or older adults. Cystic fibrosis, however, is difficult to manage regardless of your age. It's a progressive, genetic disease in which certain cells produce too many secretions, causing lung infections and breathing difficulty. CF requires specialized treatment plans and lifestyle management.
Although considered a rare disease, cystic fibrosis is one of the most common of all life-limiting, recessive genetic diseases. It's the most common of these among people with European ancestry.
As a genetic disease, cystic fibrosis is inherited via a gene known as the cystic fibrosis transmembrane conductance regulator (CFTR). Mutations may cause the CFTR gene to be defective, and those with cystic fibrosis have inherited two copies of the gene, one from each parent. The American College of Obstetricians and Gynecologists recommends that any couples considering having a child get tested for CFTR mutations.
Cystic fibrosis is a complex disease, and so it can have a wide variety of types and severity of symptoms, as well as complications.
The most common symptoms are:
Further symptoms or complications result from many factors, but particularly as a result of the mucus accumulation in airways. These cardiorespiratory complications result in about 80% of the deaths of patients in cystic fibrosis clinics in the U.S. They can include:
These effects can cause chains of further complications. A lack of oxygen traveling through the tissue can lead to clubbing, a deformity of the fingers and toes. Mucus accumulation in the liver can block the bile duct and cause liver disease.
Excessive mucus production may not exist solely in the lungs and airways, but anywhere epithelial cells grow. It can build up in the pancreas and hinder nutrient absorption, inhibiting growth and weight gain. This is a particularly common symptom in infants, along with meconium ileus, a failure to pass fecal waste. Long-term damage to the pancreas can occur, leading to cystic fibrosis-related diabetes.
Most surprisingly, cystic fibrosis causes infertility in 97-98% of men with CF. This is usually due to a congenital absence of the vas deferens, the canal through which sperm travels. In addition, around 20% of women with CF have fertility issues stemming from thickened cervical mucus or malnutrition that disrupts ovulation.
Cystic fibrosis symptoms and their severity are widely varied between patients, so every patient will have an individualized treatment plan. Although most treatment plans will incorporate similar elements, they'll always have to account for the unique factors in each patient's condition.
Common therapies may include the following.
Airway Clearance: This consists of mechanical techniques or devices to loosen and thin the mucus built up in the lungs and airways in order to remove it. Sometimes this means something as simple as coughing techniques. Among more involved techniques are:
Pancreatic Enzyme Supplements: These are capsules that help improve nutrient absorption, taken with meals.
Breathing Support: In advanced cases, CF patients may need to utilize oxygen tanks or machines to push air into their lungs, particularly while asleep.
Surgeries: In advanced cases, lung surgery may be necessary to remove sections of the lung too damaged by infection. Lung transplantation may also be an option.
Due to earlier screening and improved treatment methods, patients with cystic fibrosis are likely to live well into adulthood. This is a marked improvement over the decades, when a half-century ago patients were unlikely to live past adolescence, or even infancy in many cases. Aside from respiratory treatments, lifestyle management can improve quality of life.
Fitness: Fitness plans with regular exercise can not only improve lung function, but strengthen bones and manage diabetes and heart disease.
Other Medications: CFTR modulators can target the specific defect in the CTFR protein, although these medications are meant for specific mutations.
Avoiding Germs: Increased emphasis on avoiding microorganisms may be necessary, including practicing proper hand-washing techniques and regularly disinfecting living spaces.