Cystic Fibrosis (CF) is a chronic, genetic disease that affects the secretory glands, which are responsible for the production of fluids like mucus and sweat. Due to abnormal function of these glands, patients excessively produce a thick and sticky mucus that affects the respiratory, digestive and reproductive systems. It is particularly problematic in the lungs since the mucus accumulates and block the airways, leading to breathing difficulties.
The development of cystic fibrosis is related to a defect in the cystic fibrosis transmembrane conductance regulator (CFTR), which runs in families, making the disease inherited. Each person inherits two CFTR genes, one from each patient. When there is only one faulty gene, the person is a CF carrier, but when two faulty CFTR genes, the patient develops cystic fibrosis.
Cystic Fibrosis Statistics in the USA
The United States are among the countries with higher incidence of cystic fibrosis. According to the Cystic Fibrosis Foundation (CFF), each time two genetic CF carriers have a child, the probability of having a child with the disease is one in every four babies — the equivalent to 25%. Similarly, having a child that carries but does not suffer from CF happens in 50% of the cases, and one in every four children, 25%, do not suffer or carry CF. There are over 1,800 known CF mutations, but the exact number of existent mutations is not known and the majority of genetic tests only screen for the most common CF mutations.
The Centers for Disease Control and Prevention state that “the presence of two mutant genes (g) is needed for CF to appear. Each parent carries one defective gene (g) and one normal gene (G). The single normal gene is sufficient for normal function of the mucus glands, and the parents are therefore CF-free. Each child has a 25 percent risk of inheriting two defective genes and getting CF, a 25 percent chance of inheriting two normal genes, and a 50 percent chance of being an unaffected carrier like the parents.”
There are currently about 30,000 people living with cystic fibrosis in the United States alone, while more than 75% of the patients are diagnosed by age two. In addition, statistics reveal that approximately 1,000 new cases of CF are diagnosed in the country each year. However, the diagnosis of the disease is still often delayed or mistakenly conducted and, according to the study “Misdiagnosis of Cystic Fibrosis,” the rate of misdiagnosis is about four percent. On the other hand, the life expectancy for patients with CF has greatly increased in the past years. According to CFF’s National Patient Registry, about half of the patients are older than 18, and the median age of survival for a person with CF is currently 33.4 years, with patients living into their fifties or sixties. This is a great improvement since only thirty years ago, a CF patient was not expected to reach adulthood.
Worldwide Cystic Fibrosis Statistics
Cystic fibrosis can be developed by people from both genders, as well as all races and ethnic groups. However, the incidence of CF varies across the globe. Cystic fibrosis is particularly common among Caucasians of Northern European descent and among Latinos and American Indians, especially the Pueblo and Zuni. The incidence of cystic fibrosis in the European Union one in 2000-3000 newborns, but there are also discrepancies among the different countries. On the contrary, the disease is severely underdiagnosed in Asia, and research on the topic suggests that the prevalence of CF is rare.
The increase in CF patients’ life expectancy is a worldwide tendency, with a steadily growth in the number of adults who suffer from the disease. However, this also carry negative implications. Adult CF patients tend to experience additional health challenges including CF-related diabetes and osteoporosis. In addition, over 95% of men with CF are sterile. In addition to the increase in life expectancy, research also demonstrates that there has been a decrease in the incidence of the disease worldwide, as explained in the study “Evidence for decline in the incidence of cystic fibrosis: a 35-year observational study in Brittany, France.”
“Cystic fibrosis (CF) is an autosomal recessive disorder whose incidence has long been estimated as 1/2500 live births in Caucasians. Expanding implementation of newborn screening (NBS) programs now allows a better monitoring of the disease incidence, what is essential to make reliable predictions for disease management. This study assessed time trends in the birth incidence of CF over a long period (35 years: 1975-2009) in an area where CF is frequent (Brittany, France) and where NBS has been implemented for more than 20 years,” stated the authors. “This study provides an accurate picture of the evolution of the incidence of a genetic disease over a long period and highlights how it is influenced by the health policies implemented. We observed a 40% drop in incidence in our area which seems consecutive to the availability of prenatal diagnosis.”
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