Cystic Fibrosis

Cystic Fibrosis (CF) is an inherited that results in the accumulation of thick, sticky mucus in several organs, such as the pancreas and lungs. Thick mucus obstructs the airways of CF patients, making breathing challenging. Appropriate dietary habits and lung clearance are part of management.

What is Cystic Fibrosis?

CF is a progressive, genetic disease that affects the lungs, pancreas, and other organs. This life-threatening disorder is caused by a defective gene that makes the body produce abnormally sticky, and thick fluid called mucus. 

In cystic fibrosis, there are mutations in the CFTR gene. This can lead to dysfunctional CFTR protein. This protein normally aids in moving chloride to the cell surface. When it malfunctions, chloride cannot attract water to the cell surface, resulting in thick and sticky mucus in multiple organs.

In CF, mucus accumulation in the lungs traps bacteria. This causes infections, inflammation, and respiratory complications. In the pancreas, thickened mucus obstructs the release of digestive enzymes. Thus, leading to malnutrition and stunted growth. In the liver, mucus blockage in the bile duct can induce liver disease. Additionally, CF may impact male fertility.

Symptoms of Cystic Fibrosis?

Classic cystic fibrosis

The following symptoms are present in children with classic CF:

• Loose or greasy stool
• Poor growth or weight gain despite a good appetite.
• Difficulty breathing
• A persistent cough
• Recurrent lung infections like bronchitis or pneumonia.
• Wheeze that occurs repeatedly.
• persistent sinus infections.
• Stunted growth.

Atypical Cystic Fibrosis

When diagnosed with atypical CF, a person may already be an adult. A few examples of respiratory symptoms and indicators are:

• Breathing issues that could be related to chronic obstructive pulmonary disease (COPD) or asthma.
• Persistent sinus infection
• Recurrent episodes of pneumonia
• Polyps in the nose

Other indications and manifestations of atypical CF could be:

• Diarrhea
• Dehydration
• Infertility issues
• Unintentional loss of weight
• Pancreatitis

Causes of Cystic Fibrosis

Cystic fibrosis is a hereditary condition. People with CF have two copies of the faulty CF gene, one from each parent. Both parents must possess at least one copy of the faulty gene. 

People who have one copy of the faulty CF gene are known as carriers. However, they do not develop the illness. When two CF carriers conceive a child, the likelihood is:

• 25% that the child will have CF
• 50% that the child will be a carrier but will not have the disease
• 25% that the child will not be a carrier and will not have the disease

Diagnosing Cystic Fibrosis

Diagnosing cystic fibrosis is a multistep process, and should include a:

• Newborn screening
• Sweat test
• Genetic or carrier test

Although most people are diagnosed with CF by the age of 2, some are diagnosed as adults. A CF specialist can order a sweat test and recommend additional testing to confirm a CF diagnosis.

Cystic Fibrosis Treatment 

Treatment plans for CF are tailored to each person’s unique needs. They often include a combination of therapies to manage the symptoms of the disease. These therapies include:

• airway clearance techniques
• medications to help thin and clear mucus from the lungs
• antibiotics to treat lung infections
• enzymes to help with digestion
• a healthy, high-calorie diet

People with CF and their families are also encouraged to take steps to avoid germs and maintain good overall health.

Preventing Cystic Fibrosis

Preventive measures for CF include:

• getting vaccinated
• practicing good hygiene
• avoiding people who are sick
• maintaining a healthy lifestyle

It is also essential to follow the treatment plan prescribed by the CF care team and attend regular appointments to monitor the disease’s progression.

Cystic fibrosis is a genetic disease that affects the pancreas, lungs, and other organs, causing thick mucus buildup. Although a cure is still unavailable, advancements in specialized care have improved the quality of life and lifespan for those with CF. 

With thorough diagnosis, personalized treatments, and preventive measures, individuals with CF can live fulfilling lives into their 30s, 40s, and beyond.