Cystic Fibrosis: Affecting Millions Of People Every Year
Medikoe Health Expert
Koramangala, bengaluru, karnataka, india, Bengaluru Feb 9, 2017
Cystic fibrosis is a hereditary condition that affects the lungs and also the digestive system. The first and foremost symptom of CF is the formation of thick and sticky mucus that can clog the lungs and obstructs the pancreas. Cystic fibrosis (CF) can be life-threatening hence, it should not be ignored.
Cystic fibrosis is a genetic disease that affects the lungs and digestive system, but further leads to lethal complications such as liver disease and diabetes.
The gene responsible for Cystic fibrosis leads to the production of thicker, stickier mucus than the usual one. This mucus is too sticky to cough out of the lungs. This makes breathing difficult and causes severe lung infection.
The mucus also interferes with functions performed by the pancreas including, preventing the enzymes from breaking down the food entirely. Resulting in digestive problems, leading to malnutrition.
This mucus can also cause infertility in male as it becomes so thick that blocks vas deferens, the tube that carries the sperm from testes to the urethra.
CF is considered fatal, respiratory failure is the leading cause of death in people with CF.
Symptoms of Cystic Fibrosis
Symptoms of cystic fibrosis include:
Persistent coughing (trying to cough out the sticky mucus)
Shortness of breath
Slow weight gain even after eating a lot.
Greasy, bulky stools
Nasal polyps, small, fleshy growths found in the nose.
Obstruction of the lungs in CF increases the risk of lung infection such as bronchitis and pneumonia, as it creates an optimal condition that is favourable for the growth of pathogens.
CF’s obstruction of the pancreas can lead to malnutrition and poor growth. It is also closely related to diabetes and osteoporosis.
Causes of Cystic Fibrosis
CF is said to be an inherited condition. A person needs to inherit the defective gene from both of the parents to have cystic fibrosis.
The defective gene carries a code responsible for producing a protein that controls the flow of salt and water outside of the organs, including organs like lungs and pancreas.
In the disease the balance of salt and water is disturbed, leading to a very little salt and water outside the cells resulting in the production of thicker than usual mucus.
People with only one set of the defective gene are called carriers, in order to be suffering from CF they need both of these genes, they do not the condition or any related symptoms.
If two carriers of CF, have a child:
25 %, or 1 in 4 chance, the child will have CF
50%, or 1 in 2 chance, the child will be a carrier but will not suffer from CF
25%, or 1 in 4 chance, the child will not be a carrier and will not suffer from CF.
Over 10 million Americans carrying the CF gene are unaware.
Diagnosis of Cystic Fibrosis
Americans are at higher risk for developing the disease, all the babies are screened for CF by collecting their blood sample. This test indicates the presence of the disease and requires further investigation.
The diagnostic test for CF is the sweat test. Sweat is collected of the infected person and the amount of the chloride is estimated, a component of salt. A high level of chloride in the sweat is an indication of CF.
Genetic tests are also one of the tests used to identify CF, it is carried out by analyzing cheek cells or via a blood sample. These tests are usually carried out to identify if a person is carrying the CF gene, also can be used for confirmation if the results from sweat test are unclear.
There is a total of 1700 known mutations of the CF gene, while most of the test only identify common mutations.
Most of the people with CF are diagnosed by the age of 2.
Treatment of Cystic Fibrosis
There is no cure for CF. Treatment of CF includes managing the symptoms of the disease, however, and improve the quality of life of patients suffering from CF.
It is very important for people with CF to clear out the mucus from their lungs so that they can clear the lungs and avoid any related infections.
Airway clearance techniques (ACT) can help get rid of mucus from the lungs of people with CF.
One of the examples of ACT would be postural drainage and percussion. The therapist claps the patient’s chest and back while they sit or stand that helps the patient in getting rid of the mucus.
Medications that are inhaled is an effective way of clearing the airways and is commonly used. The medication can be inhaled using an aerosol or a metered-dose inhaler. These medications make the mucus thinner, kill the bacteria and also mobilizes mucus to decrease its consistency.
Antibiotics play an important role in controlling the symptoms and should be included in the drug regime. These can be taken orally, intravenously and can be inhaled.
Other drugs such as ibuprofen and azithromycin are said to improve complications related to lungs and are now included in the standard drug regime.
Prevention of Cystic Fibrosis
People with CF can reduce the risk of lung infections by following few steps:
Washing one’s hands frequently
Not smoking avoiding passive smoking
Avoid contact with people who have a common cold or any other contagious illnesses.
Getting a flu shot every year.
Other Forms of Treatment of Cystic Fibrosis
There are other methods/ alternative methods for managing CF which does not involve the airway
Implanted devices are the best way to manage a chronic condition of CF as it gives long term access to the bloodstream for the frequent and regular administration of drugs.
CF transmembrane conductance regulator (CFTR) modulator are the new invention that targets defective CF gene. This device helps in the proper flow of salt and water on the surface on the lung and also helps to thin the mucus that affects the people suffering from CF.
Two CFTR modulator brands are suggested by the food drug administration (FDA). these are Kalydeco and Orkambi, Kalydeco is prescribed to patients at the age of 2 while orkambi after the age of 6. They are prescribed for more than 10 gene mutations.
Nutritional therapy for relieving the digestive symptoms is important as CF impairs the digestive function and nutrient absorption. A proper diet chart should be prepared for people with CF, should seek guidance from nutritionist or dietitian to manage symptoms.
A personalised diet that includes additional supplements such as salt, pancreatic enzyme supplements or vitamins to balance the absorption of nutrients.
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