Cystic fibrosis is a genetic condition present in the individual inherited from the parents. The gene causing CF (cystic fibrosis), when transferred, leads to abnormal sticky mucus thickening and inflammation of the pancreas, intestines, and lung airways. The genetic line is the only cause of CF and can lead to medical conditions like diabetes, inflammation of the pancreas, malnutrition, bone thinning, abdominal pain, GIT disturbances, arthritis, and sinus infections in adults as well as teens or newborns. CF can be diagnosed by a combination of tests like a Sweat test to check chlorine levels in the body, blood tests, newborn screenings, and genetic testing for the prompt diagnosis of CF. Healthcare providers prescribe different treatment options according to the organ that was affected. Bronchodilators, Vibrational devices to loosen mucus, and surgery is performed as the treatment depending on the severity of CF in the body.
What is cystic fibrosis?
Cystic fibrosis is a serious genetic condition inherited in individuals, leading to the production of an abnormal amount of thick mucus in the respiratory tract and digestive system. These two systems, i.e., Respiratory and digestive, are mainly affected by individuals with cystic fibrosis, leading to a set of discomforting signs and symptoms. In this condition body contains one recessive (not dominant) gene that gets dominant, producing one faulty protein that signals the cells, tissue, and organs responsible for sweat or mucus to produce sweat and mucus in more than normal or required amount. People with cystic fibrosis will have sticky and thick mucus in the passages, causing blockage and inflammation.
What are the main symptoms of cystic fibrosis?
Some people have fewer symptoms, while some people have severe symptoms causing life-threatening conditions. Signs and symptoms largely depend on the organ that is affected.
For instance, if lungs get affected, airways and passages will be blocked, leading to
- Wheezing cough (with sputum/mucus)
- Shortness of breath
- Fever is the body’s immune response
If the digestive system is affected by cystic fibrosis, the intestines will produce more mucus than normal, leading to intestinal obstruction ( mainly in newborn infants).
Some other symptoms in the body include
- Clubbed fingers and nails
- GIT disturbances, including severe diarrhea
- Abdominal pain and discomfort
- Frequent weight loss
- Musculoskeletal pain
- Delayed puberty
What causes cystic fibrosis?
Genes and inheritance is the main cause of cystic fibrosis. A person with cystic fibrosis carries the gene from their parents in them when born, either early or later on in adult life.
It’s important to note that it’s not necessary for parents to also suffer from cystic fibrosis to be able to transfer it to the child. A child can have the faulty (cystic fibrosis ) gene, while the parents only be the carriers of the genes for cystic fibrosis.
Who is most at risk for cystic fibrosis?
Cystic fibrosis is a genetic disease that runs in families. This clearly means that it can affect anyone in any family, and there are not any specifics that make the person more susceptible to cystic fibrosis.
As per the studies conducted, It is also said that “ No family is excluded from the probability of having cystic fibrosis, but white people of Northern European ancestry are still more prone and likely to have this disease due to the family history of cystic fibrosis.
How is cystic fibrosis diagnosed?
- Sweat test
The standard sweat test diagnoses cystic fibrosis as per the National Institute of Health, where the sweat is collected from the patient and sent to the laboratory. In Cystic fibrosis, high levels of chlorine will be present in the sweat.
- Newborn screening
Cystic fibrosis is also part of the screening process right after the baby’s birth. It also includes blood tests and some imaging tests. Mostly level of immunoreactive trypsinogen (IRT) shows the presence or is most likely to cause CF.
- Genetic testing
Genetic testing is also one of the ways to diagnose cystic fibrosis. Different mutations and genetic codes are tested in the lab to diagnose any indicative factor of CF. Usually, Sweat tests and newborn screening tests are collectively enough to diagnose cystic fibrosis. Genetic testing is performed if the person has a family history of this disease.
- Clinical Evaluation and Stool Analysis
The healthcare provider will also perform several tests, including sputum and mucus tests, in case of consistent cough and wheezing as part of clinical evaluation and investigation to diagnose correctly.
A sample of stool is also analyzed by collection and sending it to a lab to check the mucus production in the body.
Related read: Mucus in your stool
What is the most common treatment for cystic fibrosis?
The most common treatment for CF is the techniques and medications for thinning the mucus in the airways to get instant relief.
Your online doctor will more likely include a Cystic fibrosis specialist to optimize the treatment plan for you which will include
Medications or techniques for mucus thinning are used, including vibration techniques in the airways using different devices that will cause loosened mucus. It will ease breathing and clear the loose mucus, leading to instant relief and ease of breathing.
What type of medication is used for cystic fibrosis?
Bronchodilators, Vibrational devices, and NSAIDs are mostly prescribed for the relief and treatment of cystic fibrosis.
Healthcare providers prescribe bronchodilators (medications that dilate the bronchioles in the lungs) to treat SOB. Commonly prescribed bronchodilators include :
- Albuterol (Ventolin)
- Levalbuterol (Xopenex)
- Ipratropium (Atrovent)
- Formoterol (Foradil)
- Salmeterol (Serevent)
- Tiotropium (Spiriva)
Some of the other OTC medications are prescribed for the abdominal pain, cramps, and fever accompanied by CF.
Oral, inhaled, or intravenous (IV) antibiotics are also prescribed to treat the lung and digestive infections that occur with CF.
Oral antibiotics commonly prescribed are
Inhaled Antibiotics that are mostly prescribed:
- Tobramycin (Tobi, Bethkis)
- Aztreonam (Cayston)
- Colistimethate sodium (Coly-Mycin)
- Meropenem (Cayston)
Intravenous (IV) Antibiotics that are prescribed for CF are
- Piperacillin/tazobactam (Tazocin)
- Ceftazidime (Fortaz)
- Meropenem (Merrem IV)
What are the long-term issues with cystic fibrosis?
The following listed are the long-term issues with CF that can affect the body’s normal physiological function.
- Liver disease
- Pancreatitis or inflammation of the pancreas
- Nasal polyps
- Respiratory failure
Consult a Doctor
Cystic fibrosis is a serious genetic condition that can affect anyone in the population regardless of the families a person belongs to. Consultation plays a crucial role in diagnosing and treating CF at the right time with the right medications.
FAQs about cystic fibrosis
Yes. Cystic fibrosis can cause pain in joints, abdomen, and muscles. Almost all the studies published confirmed the GIT and musculoskeletal pain with cystic fibrosis.
FDA approved Trikafta (elexacaftor / tezacaftor / ivacaftor) as the best and preferred treatment option for cystic fibrosis after its approval of efficacy showed in 90% of the population that used in trials for cystic fibrosis.
Cystic fibrosis can go undetected until the late teens or early twenties; until then, mild pain and inflammation may occur. Mild episodes may not direct the healthcare provider to the CF diagnosis until the detailed screening and sweat test are performed.