What is Cystic Fibrosis?

Cystic Fibrosis (CF) is a serious, lifelong genetic disease that mainly affects the lungs and digestive system. It’s an inherited condition, which means a person only gets it when they receive a faulty gene from both parents.

People with CF have a problem with a specific gene that controls how their body produces mucus, sweat, and digestive juices. Instead of these fluids being thin and slippery, the faulty gene causes them to become thick and sticky.

This thick, sticky mucus builds up in the body’s tubes and passageways, especially in the lungs (respiratory system) and the pancreas (digestive system), leading to blockages, infections, and serious long-term damage.

How CF Affects the Body

The disease impacts any area with mucus-producing glands, leading to a variety of health challenges:

1. Respiratory Problems (Lungs)

• The thick mucus clogs the airways in the lungs, making it hard to breathe.
• This blockage traps germs, leading to repeated, serious lung infections (like bronchitis or pneumonia).
• Over time, these frequent infections and chronic inflammation cause irreversible lung damage, which can eventually require a lung transplant.

2. Digestive Problems (Pancreas and Gut)

• Mucus blocks the tubes in the pancreas, preventing digestive enzymes from reaching the small intestine.
• This makes it hard for the body to break down and absorb food, especially fats, leading to poor growth, low weight, and nutritional deficiencies.
• Other issues can include chronic intestinal obstruction and liver damage (cirrhosis) in some patients.

3. Other Complications

• Infertility in Men: Almost all men with Cystic Fibrosis are infertile due to blockages in the tubes that carry sperm.
• Women’s Health: Women with CF may experience fertility challenges and irregular menstrual cycles. 

Diagnosis and Screening

Early diagnosis is crucial for starting treatment quickly. In many countries, routine screening is performed on babies:

1. Newborn Screening: A blood test is done shortly after birth (around the third day) to check for a high level of a substance called IRT (immunoreactive trypsinogen). 
2. Sweat Test: If the first test is positive, doctors perform a sweat test. This simple, painless test measures the amount of salt (sodium chloride) in the sweat. High salt levels are the hallmark sign of CF because the faulty gene also causes the body to lose too much salt through sweat. 
3. Prenatal Testing: Genetic tests can also be performed during pregnancy if there is a known family history. 

Cystic Fibrosis Treatment: Managing Symptoms

Currently, Cystic Fibrosis is an incurable disease. However, new medications and comprehensive care have dramatically improved life expectancy. Treatment focuses on managing symptoms, clearing mucus, and controlling infections:

• Airway Clearance: Medications (like nebulized drugs) and intense physiotherapy are essential. Patients perform special exercises and techniques several times a day to manually clear the thick mucus from their lungs.
• Infection Control: Antibiotics are used to treat and prevent lung infections.
• Nutrition: A special high-calorie, vitamin-rich diet, often with enzyme supplements, is needed to help the body absorb the necessary nutrients.
• CFTR Modulators: The newest class of drug, called CFTR modulators, targets the faulty protein itself, addressing the root cause of the disease for many patients.

When properly managed, this comprehensive approach can significantly slow the damage to the airways.

Prevalence and Inheritance

 An estimated 2 to 5% of the human population is silent carriers of the faulty Cystic Fibrosis gene. This means millions of people carry one copy of the gene without having the disease themselves.

References

• Cystic Fibrosis Foundation (CFF). About Cystic Fibrosis. 2023.

• Elborn, J. S. (2016). Cystic fibrosis. The Lancet, 388(10059), 2519–2531.

• Ratjen, F., & Döring, G. (2003). Cystic fibrosis. The Lancet, 361(9358), 681–689.

• National Heart, Lung, and Blood Institute (NHLBI). Cystic Fibrosis. 2022.

• World Health Organization (WHO). Cystic Fibrosis. 2021.

• Polskie Towarzystwo Mukowiscydozy (PTM). Cystic Fibrosis Information. 2021.