Query: How rare is cystic fibrosis?
Cystic fibrosis (CF) is a rare, genetic condition that affects around 70,000 people worldwide. It is caused by a mutation in the CFTR gene, which affects the movement of salt and water in and out of cells, leading to an accumulation of thick, sticky mucus in different organs of the body. The severity of the condition can vary widely among those affected, but is usually serious and can lead to a range of complications, including lung infections, digestive problems, and diabetes.
In the United States, the prevalence of CF is estimated to be around 1 in 3,500 births – this means that for every 3,500 babies born, one will be born with CF. This equates to approximately 30,000 people in the US living with CF. The frequency of CF is much higher in certain ethnic groups, such as those of northern European descent, with the highest incidence rate of 1 in 1,800 births.
The rarity of CF means that it is often overlooked and underdiagnosed. For example, research has shown that up to 11% of CF cases remain undiagnosed until adulthood. Diagnosis of CF is made through a combination of genetic testing, sweat chloride tests, and other imaging techniques.
CF is a life-shortening condition, and the median age of survival for someone with CF in the United States is now nearing 40 years. However, thanks to advances in medical care and treatments, the life expectancy of people with CF has greatly increased over the past few decades.
Overall, cystic fibrosis is considered to be a relatively rare condition, with an estimated prevalence of 1 in 3,500 births in the United States. However, it is still important to be aware of CF and its potential complications, as early diagnosis and treatment can greatly improve quality of life and life expectancy for those affected.