What is Cystic Fibrosis?

Cystic fibrosis is an inherited condition affecting the exocrine glands, primarily impacting the gastrointestinal and respiratory systems. It leads to chronic lung disease, pancreatic insufficiency, liver disease, and abnormally high sweat electrolytes. The condition is present before birth, with symptoms appearing immediately or shortly after birth. Persistent respiratory infections result in chronic respiratory issues and obstructive pulmonary disease, along with pancreatic dysfunction and sweat gland issues. The body struggles to absorb necessary nutrients, leading to diabetes, liver cirrhosis, osteoporosis, and progressive respiratory failure, which can be fatal without a lung transplant. Life expectancy is approximately 50 years. Gene therapy trials have not yet been clinically effective. Patients require lifelong medication, diet, and physiotherapy.

Why is a Child Born with Cystic Fibrosis?

Cystic fibrosis occurs when a person inherits two defective copies (mutations) of a specific gene, one from each parent. This gene is called the cystic fibrosis transmembrane conductance regulator (CFTR). Various mutations can affect the CFTR gene. A person with only one copy of the gene is a carrier of cystic fibrosis but does not have the disease or related health problems. If a person inherits two defective genes, they will have cystic fibrosis. When both parents are carriers, each of their children has a 25% chance of inheriting both abnormal genes and developing cystic fibrosis.

How Common is Cystic Fibrosis?

In Greece, it is estimated that 1 in 2,500 children is born with cystic fibrosis. Statistically, 50 patients are expected to be born each year, which means 1 child with cystic fibrosis is born each week.

Can I Be a Carrier of the Disease?

You may be a carrier of the disease without knowing it, even if you do not have a family history or have healthy children. The chance of being a carrier without a family history of cystic fibrosis is 1 in 25. In Greece, 4-5% of the population are carriers and can pass the defective gene to their offspring unknowingly. If a relative or family member is affected or known to be a carrier, you are even more likely to be a carrier.

What Else Do I Need to Know About Cystic Fibrosis?

Over the last 20 years, detailed analysis of the gene in the DNA of patients with cystic fibrosis has identified more than 1,500 mutations, with varying incidence rates geographically and demographically. The variety of gene mutations leads to a range of symptoms. Although the most common mutation in the Greek population is ΔF508 at a rate of 53.7%, testing for only this mutation does not significantly reduce the risk of being a carrier of cystic fibrosis.