- Main symptoms
- How to confirm the diagnosis
- How the treatment is done
- 1. Use of medicines
- 2. Adaptation of the diet
- 3. Physiotherapy sessions
- 4. Surgery
- Possible complications
Cystic fibrosis is a genetic disease that affects a protein in the body, known as CFTR, which results in the production of very thick and viscous secretions, which are difficult to eliminate and thus end up accumulating inside various organs, but especially in the lung and digestive tract.
This accumulation of secretions can end up causing symptoms that affect quality of life, such as difficulty in breathing, constant feeling of shortness of breath and frequent respiratory infections. In addition, there may also be several digestive symptoms, such as the production of bulky, greasy and smelly stools or constipation, for example.
Most of the time, the symptoms of cystic fibrosis appear in childhood and the disease is diagnosed early, however, there are also people who have almost no symptoms and, therefore, may have a later diagnosis. In any case, treatment should always be started, as it prevents the disease from worsening and helps to control symptoms, when they exist.
Main symptoms
Symptoms of cystic fibrosis usually appear during childhood, but can vary from person to person. The most characteristic symptom of cystic fibrosis is the accumulation of mucus in the airways, which favors the accumulation of microorganisms and a greater recurrence of respiratory infections.
However, other symptoms that are usually associated with cystic fibrosis are:
Respiratory symptoms
- Feeling of shortness of breath; Persistent cough, there may be phlegm or blood; Wheezing when breathing; Difficulty breathing after exercise; Chronic sinusitis; Frequent pneumonia and bronchitis; Recurrent lung infections; Formation of nasal polyps, which corresponds to the abnormal growth of tissue that lines the nose. Understand what the nasal polyp is and how to treat it.
Digestive symptoms
- Stools with a fetid smell, bulky and greasy; Persistent diarrhea; Yellow skin and eyes; Difficulty in gaining weight; Underweight; Frequent constipation; Poor digestion; Progressive malnutrition.
In addition to these symptoms, it is common for people with cystic fibrosis to experience joint pain, increased blood sugar levels and saltier sweat, for example.
How to confirm the diagnosis
The diagnosis of cystic fibrosis can be made right at birth through the heel prick test. However, in order to confirm the diagnosis, it is necessary to perform a sweat test and genetic tests that allow identifying the mutation responsible for the disease.
In addition, it is possible that the carrier test is performed, which verifies the risk of the couple having children with cystic fibrosis, being this test mainly performed by people who have a family history of the disease.
When the person is not diagnosed at birth or in the first months of life, the diagnosis can be made by means of blood tests for the purpose of the research for the characteristic mutation of the disease, or through the culture of samples of material coming from the throat. in order to verify the presence of bacteria and, thus, allow the diagnosis, in addition to blood tests to evaluate some specific enzymes.
Pulmonary function tests may also be ordered by the doctor, as well as chest radiography or computed tomography. These tests are usually ordered for teenagers and adults who have chronic respiratory symptoms.
How the treatment is done
Treatment for cystic fibrosis is usually done with the intake of medications prescribed by the doctor, respiratory physiotherapy and nutritional monitoring, to control the disease and improve the person's quality of life.
In addition, surgery can also be used in some cases, especially when there is obstruction of a canal or when severe respiratory complications occur.
1. Use of medicines
The remedies for cystic fibrosis are used to prevent infections, to allow the person to breathe more easily and to prevent the appearance of other symptoms. Thus, the main drugs that can be indicated by the doctor are:
- Pancreatic enzymes, which must be administered orally, and which aim to facilitate the digestion process and the absorption of nutrients; Antibiotics to treat and prevent lung infections; Bronchodilators, which help keep the airways open and relax the bronchial muscles; Mucolytics to help release mucus;
In cases where the respiratory system worsens and the patient has complications such as bronchitis or pneumonia, for example, he may need to receive oxygen through a mask. It is important that the treatment indicated by the doctor is followed according to the prescription so that the person's quality of life improves.
2. Adaptation of the diet
Nutritional monitoring in cystic fibrosis is essential, since it is common for these patients to have difficulty gaining weight and growth, nutritional deficiencies and, sometimes, malnutrition. Thus, it is important to advise the nutritionist to supplement the diet and strengthen the immune system, fighting infections. Thus, the diet of the person with cystic fibrosis should:
- Be rich in calories, as the patient is not able to digest all the food they eat; Be rich in fat and protein because patients do not have all digestive enzymes and also lose these nutrients in the stool; Be supplemented with supplements of vitamins A, D, E and K, for the patient to have all the nutrients he needs.
The diet should start as soon as the cystic fibrosis is diagnosed, being adapted according to the evolution of the disease. Learn more about feeding for cystic fibrosis.
3. Physiotherapy sessions
Physiotherapeutic treatment aims to help release secretions, improve gas exchange in the lungs, clear the airways and improve expiration, through breathing exercises and devices. In addition, physical therapy also helps to mobilize the joints and muscles of the chest, back and shoulders through stretching exercises.
The physiotherapist should be careful to adjust the techniques according to the person's needs to achieve better results. It is important that physical therapy is done from the moment the disease was diagnosed, and can be done at home or in the office.
4. Surgery
When treatment with medications is not sufficient to relieve symptoms and prevent disease progression, the doctor may indicate the need for a lung transplant. In addition, surgery can be indicated when mucus obstructs a canal, interfering with the functioning of the organism. Understand how the lung transplant is done and when it is necessary.
Possible complications
Complications of cystic fibrosis mainly affect the respiratory, digestive and reproductive systems. Thus, there may be the development of bronchitis, sinusitis, pneumonia, nasal polyps, pneumothorax, respiratory failure, diabetes, obstruction of the bile ducts, liver and digestive problems, osteoporosis and infertility, especially in the case of men.
