Cystic fibrosis (CF) is a genetic disease that affects patients’ ability to breathe and that is marked by persistent lung infections. While there is no cure for CF, a number of treatments, therapeutics, and supplements exist to help patients manage the symptoms of the disease and improve their quality of life.
CF is caused by mutations in the CFTR (cystic fibrosis transmembrane conductance regulator) gene, which encodes for a protein that transports salts across cell membranes. The CFTR protein is shaped like a channel or tunnel through the cell membrane. Mutations in CFTR cause the protein to be made incorrectly, such that the channel is stuck closed, or is not made at all. Without normal salt transport, a thick, sticky mucus builds up in organs, interfering with their function. This is especially problematic in the lungs, where the presence of mucus can make it difficult for patients to breathe, as well as making them more susceptible to infections.
There are several broad types of medication targeted at improving the function of the CFTR protein. Depending on which mutation patients have, these treatments will be effective or not.
- CFTR potentiators are medications that help the CFTR protein transport salts across cell membranes. This type of medication binds to the CFTR channel and holds it open to increase salt transport. Kalydeco (ivacaftor) is a CFTR potentiator.
- CFTR correctors are medications that bind to the CFTR protein and help it fold into the right shape so that more of the folded protein moves to the cell membrane. Lumacaftor and tezacaftor are examples of this type of medication. However, these treatments usually are not sufficient to restore CFTR function, which is why they often are used in combination with a potentiator like Kalydeco. Orkambi is a formulation of lumacaftor and ivacaftor, and Symdeko is a formulation of tezacaftor and ivacaftor.
- CFTR amplifiers are treatments that increase the amount of CFTR protein that cells make so that amplifiers and potentiators will be more effective. This type of medication is still experimental.
- Next-generation modulators are medications designed to target other problems, such as CFTR manufacture and folding within cells. Many experimental treatments are intended to be used in combination with existing therapies. VX-455 and VX-659 are examples of this type of combination therapy.
Many CF patients have difficulty breathing because of the buildup of mucus in their lungs. Bronchodilators like albuterol often are prescribed for daily use. Bronchodilators cause airways to open wider, making it easier to breathe. There also are so-called rescue bronchodilators like levalbuterol, which are intended to work rapidly to help patients who have either stopped breathing or whose breathing is in distress.
The mucus buildup in organs caused by CF can block ducts or tubes that carry digestive enzymes from the pancreas to the stomach to digest food. About 87 percent of people with CF need to take enzymes as a supplement to ensure they can digest their food. These enzyme supplements help patients digest carbohydrates, proteins, and fats, gain and maintain a healthy weight, and absorb essential nutrients, such as vitamins and minerals. Enzymes for patients with cystic fibrosis include pancrealipase and pancreatin.
Mucolytics are a type of medications designed to help thin mucus in the lungs so patients can cough and expel it more easily. These treatments are generally taken by inhalation using a nebulizer. The mucus that accumulates in the lungs of CF patients contains DNA fragments and a protein called actin. The most effective mucolytic treatments are designed to break down the DNA, which thins the mucus. Pulmozyme (dornase alfa) is one example.
Many patients also benefit from hypertonic saline, which may help loosen mucus in the lungs.
Lung infections are very common in CF and antibiotics are used to fight or control infection-causing bacteria. There are oral antibiotics (liquids, tablets, or capsules to be swallowed), intravenous (IV) antibiotics (liquid medicine administered directly into the bloodstream through a catheter), and inhaled antibiotics (an aerosol or mist inhaled directly into the airways). The choice of antibiotic drug, dosage, and duration of treatment depend on the patient and the infection.
People with CF have trouble digesting fats, which means they have difficulty absorbing fat-soluble vitamins from their diet. These include vitamin A, D, E, and K. Vitamin supplements can help patients get the nutrients they need to grow, function, and fight infection.
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