Cystic Fibrosis, also known as mucoviscidosis or abbreviated simply as “CF,” is an inherited autosomal esearcheecessive genetic disorder that primary affects the lungs and intestines, but can also affect the pancreas, liver, and stomach as well. Because it is a genetic disorder, the disease is most prevalent among people of Northern European ancestry, but also can be found in Hispanics, African-Americans, and Native Americans. People of Asian and Middle Eastern origin only rarely develop the disease.
According to the Cystic Fibrosis Foundation, Cystic Fibrosis affects about 30,000 children and adults in the United States alone, and 70,000 people worldwide. Characterized primarily by an unusually thick, sticky mucus that clogs the lungs, obstructs the pancreas, and inhibits natural enzymes that allow the body to effectively break down food and absorb nutrients, cystic fibrosis is a deadly, life-threatening disease that in most cases dramatically cuts the lifespan of those who suffer from the disease.
Thanks to new, progressive treatments and daily care, however, modern medicine has made strides toward treating the disease, with most people with cystic fibrosis living into their 20s and 30s, and some are living as old as their 40s and 50s — a significant improvement from the mid-20th century, when cystic fibrosis patients usually died in childhood.
- About 1,000 new cases of cystic fibrosis are diagnosed each year.
- More than 70% of patients are diagnosed by age two.
- More than 45% of the CF patient population is age 18 or older.
- The predicted median age of survival for a person with CF is in the late 30s.
How Do People Get Cystic Fibrosis?
Cystic fibrosis is not a disease that one contracts. Rather, it is a genetically inherited disease that is caused by a gene called the cystic fibrosis transmembrane conductance regulator (CFTR). There are about 1500 related mutations that can lead to CF, however, two-thirds 66–70% of the cystic fibrosis cases in world, and over 90% of the cases in the United States are a result of the ΔF508 mutation. By far the most common, ΔF508 is a deletion of three nucleotides, all of which result in a loss of the amino acid phenylalanine (F) at the 508th position on the protein.
The mutation is passed on when two carriers of the mutation pass it on to an offspring, wherein neither allele can produce a functional CFTR protein. Most people have two working copies (alleles) of the CFTR gene, only one is needed to prevent cystic fibrosis. In this way, carriers of the disease can produce offspring without the disease at all, other carriers of the allele, and an affected individual as well, which is why cystic fibrosis is considered an autosomal recessive disease.
Cystic Fibrosis Symptoms
The primary and most dangerous symptom associated with cystic fibrosis is the production of a sticky, thick mucous that congests the lungs and over time becomes progressively more prone to infection. However, early symptoms present in newborns and young children (more than 70% of CF patients are diagnosed by age two), which include unusually salty skin, a steady cough that also presents with phlegm, wheezing, shortness of breath, and frequent lung infections. Because CF also affects the digestive tract, as well as the body’s ability to absorb nutrients, poor growth/weight gain in spite of a good appetite, as well as frequent greasy, bulky stools or difficulty in bowel movements also also commonly associated cystic fibrosis symptoms.
Diagnosis of Cystic Fibrosis
Diagnosis of the disease can be conducted through a wide range of screenings and tests, beginning as early as prenatal genetic screening of parents to determine risk factors. However, at present in the United States, only 10 percent of cystic fibrosis cases are diagnosed shortly after birth as part of newborn screening programs, since most states and countries do not screen for cystic fibrosis routinely at birth. The vast majority of cases are diagnosed after symptoms begin to present themselves in young children.
In prenatal screenings, testing is usually performed on one parent at first to determine if a mutated copy of the CFTR gene is present. If one is detected, then a test on the second parent is performed. If both parents are revealed to be carriers of the mutated gene, a test of the unboned child is performed to determine if he or she will be affected by the disease directly. Tests are often performed on the the placenta amniocentesis), however, these tests are believed to have an increased risk of fetal death, with 1 in 100 and amniocentesis of 1 in 200, which is why fetal testing is often seen as a last resort.
Infant testing for cystic fibrosis is often performed through a sweat test. As mentioned above, an unusually salty skin is often a sign of the disease, and parents often detect this anecdotally even before a pediatrician performs a test. The most common test for CF is the “sweat test,” which detects abnormal amounts of sodium and chloride in sweat (which accounts for unusually salty skin). The test is administered by applying a medication that causes sweating (pilocarpine). Sweat is collected on filter paper or in a small tube and analyzed.
Cystic Fibrosis Treatment
It cannot be overstated that, in spite of the fact that there is still no cure for cystic fibrosis and life expectancy is still quite low who suffer with the disease, tremendous strides have been made over the past 70 years in CF management and treatment. New management and treatment options have not only extended the life expectancy of cystic fibrosis patients, but also have managed to improve quality of life and reduce the effects of the diseases’ symptoms.
The two main areas of treatment involve the two parts of the body most affected by the disease — the lung and GI tract. Even with treatment, the lungs, intestines, and other organs such as the pancreas and reproductive organs continue to decline throughout a cystic fibrosis patient’s lifetime, however, cutting-edge treatments delay the decline in organ function. Doctors and treatment providers usually custom tailor a treatment regimen for each individual, depending on the severity of the disease, and which parts of the body it is affecting the most.
Because of the wide variation in disease symptoms treatment typically occurs at specialist multidisciplinary centers, and is tailored to the individual. Targets for therapy are the lungs, gastrointestinal tract (including pancreatic enzyme supplements), the reproductive organs (including assisted reproductive technology (ART)) and psychological support.
The lungs are typically the most targeted organ with cystic fibrosis. Therefore, treatment providers typically put patients on steady pulmonary rehabilitation and antibiotics. Bacterial infection is a constant threat to a CF patient, so the use of antibiotics is ongoing, acting as a pro-active treatment again infection even when there is none.
In addition to antibiotics, other treatments, such as chest physiotherapy (CPT), which helps loosen phlegm in the lungs, and Biphasic Cuirass Ventilation, as well as new, novel medical devices, such as the ThAIRapy Vest and the intrapulmonary percussive ventilator (IPV), are helping to streamline and automate CF treatments as well.
In Texas, Austin-based Savara Pharmaceuticals is bringing together novel, new technology with antibiotic treatment through AeroVanc (vancomycin hydrochloride inhalation powder), the first dry powder inhaled antibiotic for the treatment of methicillin-resistant Staphylococcus aureus (MRSA) infection in patients with cystic fibrosis. New, cutting-edge treatments such as these offer promising, new treatment solutions for those suffering with cystic fibrosis.
Most recently, two cystic fibrosis therapies developed by Vertex are making substantial improvements to treating the disease. The approval of Kalydeco, along with the more recent approval of combination drug Orkambi don’t just treat the symptoms of the disease, but rather the underlying causes of it, meaning that a larger group of CF patients can live a longer, more high-quality lifestyle. Vertex is also testing one of the Orkambi therapies — Lumacaftor — as a stand-alone therapy for CF.
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