Cystic fibrosis what is it?
What is cystic fibrosis?
Cystic fibrosis is a hereditary disease that occurs due to a defect in the genes responsible for regulating the movement of fluids and salts to and from cells, which leads to the production of sticky, thick, and abnormal mucus. It mainly affects the lungs because it accumulates in the bronchi, and also affects the digestive system because pancreatic enzymes are prevented from reaching the intestines.
Types of cystic fibrosis
The disease is classified into 6 main types according to genetic mutations, which are as follows:
- Class I: It is the most dangerous type because the genetic mutation prevents the formation of protein completely.
- Class II: The protein is formed and does not reach the surface of the cells. It is a common type that can be treated with medications and the patient improves greatly.
- Class III: Here the protein reaches the cell but cannot work well, and this type responds well to treatment.
- Class IV: In this type there is a relative action of the protein and therefore its symptoms are less than the previous types.
- Type V: The protein is present in a very small amount and works acceptably. Therefore, the symptoms are relatively simple and the disease’s impact on the lungs and digestion is less than the previous types.
- Type VI: This is the least common type. The protein becomes unstable and breaks down very quickly, which affects the body and the severity of symptoms appears.
Causes of cystic fibrosis
Multiple studies and research have proven that the most important main cause of this disease is the presence of a genetic defect in a gene known as CFTR, which is responsible for the production of a specific protein that regulates the movement of salts and water into and out of cells. Children usually inherit this disease from both parents until it becomes active and causes the symptoms that we will mention later.
Cystic fibrosis risk factors
Family history is the only risk factor for developing cystic fibrosis. It is a hereditary disease, and the probability of infection increases if both parents in the same family carry the defective gene. It is said that people of Northern European origin (the Caucasus) are more susceptible to this disease than others.
Symptoms of cystic fibrosis
The symptoms of cystic fibrosis are divided into symptoms related to the respiratory system, others in the digestive system, and various other symptoms that we learn about in detail below:
- Whistling in the chest.
- Chronic cough.
- Frequent exposure to pneumonia.
- Severe shortness of breath due to mucus accumulation in the lungs.
- Difficulty absorbing food and losing weight due to pancreas involvement.
- Constant exposure to abdominal bloating with foul-smelling fatty stools.
- Children exhibit delayed growth, with salinity in the skin noticed when kissing the child.
- Infertility occurs in some cases of males due to obstruction in the sperm ducts.
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How to treat cystic fibrosis?
There is no effective and definitive treatment for this disease, but there are some options that help control the symptoms and reduce the occurrence of complications later. Treatment includes the following:
- العلاج الدوائي:
It includes antibiotics to treat respiratory infections, medications that improve the function of the CFTR protein such as Kalydeco, bronchodilators to improve breathing, and a concentrated saline solution to reduce the viscosity of mucus and help in expelling it. - Nutritional supplements:
It is preferable to give the patient some vitamins such as vitamin D and vitamin A, in addition to pancreatic enzymes due to the problem of fat absorption, along with good nutrition rich in protein, and drinking plenty of fluids. - Lung physical therapy:
It is an effective treatment for dissolving the mucus accumulated on the chest and helping the patient breathe easily through breathing exercises, while using mucus dissolving devices to reduce the symptoms of coughing and shortness of breath due to thick mucus.
It is worth noting that Al Mousa Center for Rehabilitation Therapy provides the best medical care for fibrosis patients, which helps improve breathing function quickly through the latest rehabilitative therapeutic devices and techniques that help restore and improve body functions.
Book your consultation now at عيادة أمراض الجهاز التنفسي At Al Mousa Specialist Hospital
Complications of cystic fibrosis
Complications of cystic fibrosis may be serious and involve many body systems, such as:
- Respiratory complications: These include recurrent pneumonia, respiratory failure in some advanced cases, and exposure to pulmonary hemorrhage.
- Digestive system complications: These include intestinal obstruction, chronic pancreatitis, and diabetes associated with fibrosis.
- Reproductive system complications: These include blockage of the sperm ducts in men, causing infertility, and fertility problems in some women.
- Liver complications: These include bile duct obstruction and liver failure in some late cases.
How to prevent cystic fibrosis?
As we learned about cystic fibrosis, it is a hereditary disease, so it can be prevented before marriage and childbirth to protect future generations through:
- Extreme caution in the case of consanguineous marriage, especially in the family where the disease appeared.
- Genetic testing before marriage. If there is a genetic defect in both spouses, the possibility of children being affected increases.
- When a couple carries the gene that causes the disease, the in vitro fertilization technique can be used, along with examining the embryos to choose those that are free of the gene before implanting them in the uterus.
Cystic fibrosis is a complex disease that requires special medical care so as not to cause complications later on. Therefore, Al Mousa Specialist Hospital offers you an integrated community within the hospital, from specialized outpatient clinics to rehabilitation treatment centers to improve lung function during the treatment journey, in addition to providing the necessary psychological support to patients. With us, you are safe.
Frequently asked questions
Let us learn below the most important questions about cystic fibrosis and answer them in detail:
Is cystic fibrosis cancer?
No, cystic fibrosis is not cancer. Rather, it is a hereditary disease, as we mentioned, due to a genetic defect and not due to the growth of abnormal cells in the body. However, some studies say that a cirrhosis patient may be more susceptible to developing cancer later on.
Is cystic fibrosis fatal?
No, it is a serious and chronic disease, as we mentioned, but it is not considered a fatal disease. With great medical progress, there are effective treatments and diet systems that help reduce the risk and complications of this disease.
How long does a cystic fibrosis patient live?
It is not possible to determine how long a patient will live. This depends on the extent of interest in treatment and constant follow-up with the doctor. In the case of organized and proper treatment, especially medications, gene rates CFTR A patient with cirrhosis may live a long time.
Can cystic fibrosis be cured?
No, so far there is no treatment that can lead to a complete recovery from cystic fibrosis because it is a disease caused by a genetic defect, as we mentioned, but treatment helps reduce symptoms and improve lung function.
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