Life expectancy for cystic fibrosis now exceeds 50 years thanks to new treatments

Back in the 1980s, a diagnosis of cystic fibrosis was synonymous with not surviving beyond the age of 20. Now, with new treatments that have been on the market for little more than four years, these so-called modulating drugs have raised life expectancy to beyond 50 years and the outlook is very promising, thanks to continuous advances in research. Added to these are the importance of early diagnosis - thanks to the heel prick test - and even how fundamental it would be to be able to detect the disease before birth.

Cystic fibrosis "is the most common hereditary disease in the caucasian population: it is due to a genetic defect in the CFTR gene, with more than 2,000 described and catalogued mutations. This disease alters the exchange of water and salt in the body's cells, causing thick secretions that obstruct organs such as the lungs, digestive system, reproductive system and sweat glands, leading to repeated respiratory infections and nutrient absorption problems", explains Dr Gustavo de Luiz, head of the pneumology department at Vithas Xanit International Hospital.

The world calendar has 8 September marked down as Cystic Fibrosis Awareness Day. The disease is estimated to affect between 80 to 100 people in Malaga, according to the Andalusian association for cystic fibrosis and there are between 10 and 20 new diagnoses in Andalucía every year. Dr De Luiz explains to SUR that "life expectancy has increased significantly. In the '80s, it was only 20 years, in the '90s, it was around 30, and currently it exceeds 50 years of age. This is possible thanks to early diagnosis, care in specialised units and, especially, to new treatments that modulate the CFTR gene, which are changing the natural progression of the disease." In his opinion, cystic fibrosis is increasingly being experienced "as a chronic adult disease".

Laura Baños, gynaecologist and vice-president of the cystic fibrosis association in Malaga, agrees with Dr De Luiz. "Life expectancy has increased. Before modulators, it was between 35 and 40 years. More observation is needed to truly know the ultimate life expectancy, because those who have been under treatment the longest have not been on it for more than six years," she says. In other words, as time goes by, the side effects will become evident and the quality of life ceiling will be broken, maybe even exceeding 60 years.

The disease causes mild symptoms such as a chronic cough, recurrent bronchitis, difficulty gaining weight and salty-tasting skin, explains Dr Gustavo de Luiz. There are also moderate symptoms: frequent respiratory infections, chronic sinusitis, the need for digestive enzymes to absorb food and also nutritional problems. Then there are the severe ones: "Progressive lung damage with bronchiectasis, respiratory failure, related diabetes, liver complications and, in men, infertility."

Baños adds that, in the most serious cases, a lung transplant may be required, although she is optimistic: "Life expectancy is increasing because they have had access to modulators from a young age." She expresses some caution too, given that 20% of patients, due to their particular cystic fibrosis mutations, are not candidates for taking modulators (these drugs reduce the viscosity of secretions by up to 70%, reducing germ infections) or there are no suitable modulators for them, although the usual ones do improve these indicators, albeit much less. "The problem with mucus is that, because it's so thick, germs like it and infect it. They stay there, colonising and causing chronic infections, making the lungs worse," says Dr Baños, who is also the mother of a six-year-old boy with this condition.

The doctor mentions that the cystic fibrosis unit at Malaga's maternity and children's hospital cares for 110 children with cystic fibrosis, some of them from outside Malaga province.

Dr De Luiz stresses that cystic fibrosis is a chronic and progressive disease: it usually begins in childhood. Over time, "repeated respiratory infections cause inflammation and structural damage to the lungs, which gradually reduces lung function. By adulthood, chronic bacterial colonisation occurs, which further contributes to respiratory deterioration," he explains. Furthermore, pancreatic involvement leads to fat malabsorption, vitamin deficiencies and malnutrition, he adds. In advanced stages, respiratory deterioration can lead to chronic lung failure.

It cannot be prevented, because it is a hereditary, genetic disease, but "what we can do is diagnose it very early and start treating it as soon as possible. In Spain there is neonatal screening, the heel prick test, which detects the disease in the first days of life," he states. He also highlights the importance of "genetic testing and reproductive counselling for carrier families to reduce the risk. Once diagnosed, specialised follow-up and new treatments help prevent complications and improve quality of life," says Dr De Luiz.

Treatment must be comprehensive and multidisciplinary: respiratory physiotherapy and antibiotics for infections, pancreatic enzymes and nutritional supplements, new modulating drugs that "partially correct the genetic defect and are changing patients' lives," he says.

De Luiz points out that modulators can be used from as early as two years of age and for many more mutations, improving lung function, reducing hospital admissions and increasing life expectancy. Laura Baños calls for more research, while her colleague notes that gene therapy trials are underway in which, for the first time, a patient has received a treatment designed to directly correct the gene. "Before, most patients died in childhood or adolescence, while today, 58% of people with cystic fibrosis are adults, which was unthinkable a few decades ago," concludes Gustavo de Luiz.