Causes, Risk Factors & Complications Of Cystic Fibrosis

Cystic fibrosis is a serious medical condition that causes the buildup of thick, sticky mucus in the body. While it can affect multiple areas of the body, such as the pancreas, bowels, and reproductive organs, most complications of this disease revolve around mucus buildup in the lungs. Although treatments for cystic fibrosis have improved over the years, it's still a degenerative condition. This means cystic fibrosis gets worse over time and generally leads to an early death—most commonly between the ages of thirty and fifty. The following is a look at the causes, risk factors, and medical complications associated with cystic fibrosis.

Gene Mutation

Cystic fibrosis is a genetic condition, meaning it can be passed from parent to child. An individual receives one copy of each gene in their body from both parents, and when these genes don't work properly, the mutation runs the risk of being present in the child as well. Specifically, cystic fibrosis occurs when a gene mutation of the cystic fibrosis transmembrane conductance regulator gene (CFTR) is inherited. This gene is responsible for the body's regulation of fluids and salt within cells, and when it does not work properly, it causes the buildup of mucus within the lungs that's associated with cystic fibrosis.

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Family History

However, cystic fibrosis is a recessive condition, which means both parents must pass on a copy of the mutated CFTR gene for it to be present in a child. If it's inherited from only one parent, the mutation will not occur. And even when parents both have the mutated gene, there is only a twenty-five percent chance their child will develop the disease. Instead, it's much more common for a child to be a carrier of cystic fibrosis—which means they have the genetic mutation but do not present symptoms. Because of the variable chances of inheriting cystic fibrosis, it's important for individuals to be familiar with their family history of the disease. Just because they (or any close relatives) don't suffer from the disease doesn't mean they aren't carrying the CFTR mutation, which could be inadvertently be passed along to their children.

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Chronic Infections

Chronic infections of the lungs are a common symptom found in patients with cystic fibrosis. In healthy individuals, mucus is easily and safely removed from the lungs on a regular basis. However, in patients with cystic fibrosis, this process does not occur normally—over time, large amounts of thick mucus accumulate in the lungs and can't be flushed out. Unfortunately, this mucus is a breeding ground for harmful bacteria. Most commonly, cystic fibrosis patients contract Pseudomonas aeruginosa, which is a form of pneumonia. This can be difficult to treat because of its recurring nature and also because the infection is increasingly becoming resistant to treatment.

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Hemoptysis

Hemoptysis, or coughing up blood, is a potentially concerning complication associated with the lung infections caused by cystic fibrosis. When an infection irritates a blood vessel in the lungs, it can cause it to bleed, leading to the presence of blood in the mucus discharge that's coughed up. It's estimated that up to half of all adults living with cystic fibrosis will experience this side effect at some point in their lives. While this can be a frightening sight for patients, hemoptysis is generally not a cause for concern, as long as the amount of blood coughed up isn't more than one cup per twenty minutes. However, larger amounts can be potentially dangerous and should be reported to a doctor.

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Bronchiectasis

Bronchiectasis is another complication associated with cystic fibrosis that occurs when the airways in the lungs are widened and scarred by an infection. This damage done to the airways, which are known as bronchial tubes, can lead to symptoms such as wheezing, chronic cough, breathing difficulties, chest pain, fatigue, and weight loss. Additionally, it also increases a patient's risk for future lung infections. While the damage done by this condition cannot be reversed completely, its effects can be managed in many of the same ways cystic fibrosis itself is managed. In extreme cases of this condition, a patient's airways may need to be manually cleared.