How Cystic Fibrosis Affects Adults

How Cystic Fibrosis Affects Adults

Pamela Bandelaria |Mar 7, 2022

Cystic Fibrosis in Adults

One of the most common autosomal recessive diseases is cystic fibrosis (CF). It occurs in 1 in 2,500 to 3,500 newborns. Does this illness sound familiar? If it does not, do not worry. In this article, you will learn about cystic fibrosis in adults, including symptoms and how it affects different organs in the body.

What is Cystic Fibrosis?

Cystic fibrosis is an inheritable disease. In order for the disease to manifest, two copies of the abnormal gene must be present. Mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene (a gene that encodes a chloride channel) causes problems in the CFTR protein, which leads to imbalances in the salt and water inside the cell. This imbalance leads to the body producing thick and sticky mucus. Mucus is ideally fluid and runny so that it can act as a lubricant in the body, but for people with CF it tends to clog tubes, putting you at risk of other health concerns.

Cystic fibrosis is also a multi-organ disease, as its effects are seen in different organs, such as the lungs, pancreas and the other gastrointestinal organs, the sinuses and sweat glands.

1. Symptoms in Lungs

Mucus in the lungs normally helps in the lubrication and trapping of foreign substances and microorganisms. The increased viscosity of mucus brought about by cystic fibrosis leads to mucus plugging of the bronchial passages and small airway ducts. This leads to obstructive lung disease and inflammation. It also provides a good habitat for the growth of bacteria, leading to pulmonary infection. Because of its effect on the lungs, people with this condition have significant respiratory problems leading to extreme difficulty in breathing over time.

2. Symptoms in the Gastrointestinal System

Normally, the pancreas secretes enzymes that empty into the small intestine to help with the digestion of food. For patients with cystic fibrosis, this is impaired because the thick mucus secretion blocks and clogs the pancreatic ducts, leading to pancreatic insufficiency. The release of pancreatic enzymes for digestion is compromised too. The impairment due to cystic fibrosis causes greasy stools and difficulty of absorption of nutrients, especially the fat-soluble ones (vitamins A, D, E and K).

Not only that, but because the pancreatic enzymes are not released, it results in inflammation within the pancreas which can lead to destruction of pancreatic tissue and eventually pancreatic failure. Further damage of the pancreas can lead to complications that are similar to type 1 diabetes mellitus.
Duct obstruction also affects the gallbladder and liver, leading to liver cirrhosis and gallbladder disease, with an increased risk of gallstone formation.

3. Symptoms in the Sinuses and Sweat Glands

Obstruction in the sinus passages leads to increased inflammation. Cilia, which are hair-like structures that line the sinus passageways, are impaired. Cilia are part of the respiratory system’s defense and trap potentially-harmful substances, including bacteria that can lead to increased bacterial growth and sinusitis. Dysfunction also occurs in the sweat glands, and it causes the sweat in skin to have a higher salt concentration. In severe cases, this can lead to dehydration.

How is It Treated?

Cystic fibrosis can be diagnosed at birth through newborn screening tests. Because it can be detected early, treatment can also be started early and optimized. Treatment is also multi-factorial and patients are usually managed by a team of specialists.

The main goal in the treatment of cystic fibrosis is to ensure that all the organs affected by the disease are not damaged and function optimally for as long as possible.

Because cystic fibrosis has a significant impact on the lungs, one of the goals of treatment is to maintain lung function and avoid further impairment by controlling infection and inflammation.

Antibiotics are given to control infection and adequate oxygenation is provided by bronchodilators. Anti-inflammatory medications are given to control inflammation. If there are signs of respiratory distress, oxygenation and breathing are supported by using devices such as nasal cannulas or a bilevel positive airway pressure. Nutritional support is also important as malabsorption of important nutrients can lead to poor weight gain and weaker immunity. By addressing all these concerns, treatment is not only multi-factorial, but also holistic.

In Conclusion

While many people believe CF is limited to the lungs, this is not true. Cystic fibrosis in adults can occur in other areas of the body, affecting the sinus cavities and digestive tract. If you believe you are at risk, talk to your doctor as soon as possible.

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Sinead Carey | March 7, 2022

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