Definition

Cystic fibrosis is a condition inherited from parents and passed down to children. It causes the buildup of mucus in the lungs and digestive system. If left untreated, it can lead to lung infections and digestive problems. This condition is more prevalent among individuals of white ethnicity than among other racial groups.

Causes

Cystic fibrosis is a genetically inherited condition caused by a mutation in the CFTR gene, which regulates the movement of salt and water in cells. Consequently, thick and sticky mucus forms in the airways, digestive system, and genitals, and salt levels in sweat are elevated.

Not everyone carrying the gene responsible for this condition will exhibit cystic fibrosis. The individual only possesses one copy of the gene causing the condition. Symptom manifestation requires gene pairing, so a child with cystic fibrosis inherits paired cystic fibrosis genes, one from each parent.

Risk factor

Cystic fibrosis is hereditary, making a family history of similar conditions the primary risk factor. While cystic fibrosis affects individuals of all races, it is most prevalent among people of Northern European descent.

Symptoms

Increased quantity and thickness of mucus in the respiratory tract can heighten the risk of respiratory issues, particularly infections. Moreover, this mucus can obstruct the release of digestive enzymes from the pancreas, crucial for food breakdown and absorption, leading individuals with cystic fibrosis to struggle with optimal nutrient absorption.

Symptoms of cystic fibrosis typically affect the respiratory and digestive systems. Respiratory symptoms encompass:

• Persistent, productive cough
• Wheezing
• Easy fatigue, inability to sustain exercise for extended periods
• Recurrent lung infections
• Nasal congestion and inflammation, accompanied by a runny nose
• Recurrent sinusitis (sinus inflammation)

Meanwhile, symptoms related to the digestive system include:

• Foul-smelling and oily stools
• Difficulty gaining weight or growing
• Intestinal blockage, particularly in newborns (referred to as meconium ileus)
• Severe and prolonged constipation, often accompanied by excessive straining during bowel movements, which can lead to rectal prolapse, where part of the rectum protrudes from the anus

Diagnosis

Cystic fibrosis can be diagnosed from birth. Direct examinations may be conducted to identify symptoms suggestive of cystic fibrosis, such as a persistent cough, runny nose, or jaundiced skin. Additionally, children with cystic fibrosis may exhibit growth difficulties. Physicians may inquire about family history to aid in diagnosis. Laboratory tests may also be employed, including sweat testing to measure salt levels and genetic testing to identify cystic fibrosis-causing genes.

Furthermore, additional examinations may be conducted to assess cystic fibrosis-related complications. X-rays can detect lung and intestinal issues in newborns, while computed tomography (CT) scans evaluate the severity of cystic fibrosis-induced lung disease. Lung function tests may determine the extent to which respiratory function is impaired. Immunoreactive trypsinogen (IRT) testing can identify digestive problems in newborns.

Management

Cystic fibrosis cannot be cured, but it can be managed. Left unchecked, various potentially harmful complications can jeopardize patients' lives. Management typically targets maintaining lung function, ensuring normal growth, and addressing emerging health issues as the disease progresses.

Several measures can be taken to maintain lung function, including enhancing mucus clearance from the airways, utilizing inhaled medications such as asthma drugs, undergoing chest physical therapy to clear and mobilize mucus, employing medications to thin mucus, and administering antibiotics promptly to prevent and treat lung infections.

Doctors may prescribe specific medications to augment digestive enzyme levels and recommend multivitamins to ensure normal growth. Individuals with cystic fibrosis are advised to consume high-fat foods alongside fat-soluble multivitamins. Additionally, maintaining an ideal body weight may entail consuming high-calorie foods. In hot climates, supplementing salt intake is highly recommended to compensate for salt loss through sweat.

People with cystic fibrosis can and should exercise regularly, as it is highly beneficial. Regular physical activity can enhance physical strength, with upper body exercises like canoeing particularly effective for strengthening respiratory muscles.

Complications

Individuals with cystic fibrosis face an increased risk of developing other conditions, including:

• Osteoporosis, characterized by fragile and easily fractured bones
• Diabetes or elevated blood sugar levels
• Sinus infections and nasal polyps, benign growths within the nasal cavity
• Liver problems
• Fertility issues, with women being capable of having children, although men typically require specialized medical assistance for conception.

Due to the heightened risk of infection transmission and potential complications if infected, individuals with cystic fibrosis should avoid face-to-face interactions.

Prevention

Preventing cystic fibrosis is challenging due to its hereditary nature. Couples closely related to someone with this condition are advised to undergo genetic testing before conceiving. This test, conducted via blood samples analyzed in a laboratory, estimates the risk of having a child with cystic fibrosis. If pregnancy occurs and genetic testing indicates fetal cystic fibrosis risk, additional fetal tests may be performed.

Genetic testing is not obligatory for everyone. Before deciding to undergo testing, it is recommended that you consult a doctor or genetic counselor about the potential psychological effects of the results.

When to see a doctor?

If you or your child exhibits symptoms of cystic fibrosis, consulting a doctor for diagnostic testing is essential. Regular monitoring is necessary for cystic fibrosis management at least every three months. Prompt medical attention is warranted for new or worsening symptoms, such as increased mucus production, changes in mucus color, persistent fatigue, unintentional weight loss, or severe constipation. 

Urgent medical attention should be sought for symptoms like coughing up blood, chest pain, shortness of breath, or severe abdominal pain.