Cystic fibrosis (cystic fibrosis) is an inherited disease that occurs primarily among white people. A typical sign of cystic fibrosis is the formation of viscous mucus in the lungs and pancreas. As a result, the internal organs are severely impaired.
What is cystic fibrosis?
Mucoviscidosis (cystic fibrosis) is a metabolic disease that is mainly due to a genetic defect. It is now assumed that around 4 million Germans carry at least the gene that is responsible for inheritance. The symptoms are complex and difficult to recognize because they are often confused with other diseases such as asthma or bronchitis.
For example, those affected often suffer from pneumonia and shortness of breath. Disorders affecting growth and being underweight are also typical symptoms of the disease. A few years ago, the life expectancy of patients was a maximum of 5 years, but now children who have been diagnosed with cystic fibrosis can reach an average later of 40 years. See foodezine for Everything about Hydronephrosis.
The cause of cystic fibrosis lies in a genetic defect that is passed on. However, for the disease to break out, both parents must carry the defective gene and pass it on to the child. Because inheritance is autosomal recessive, not dominant, a pair of parents where only one has the gene can have a perfectly healthy child. If both parents are affected, there is a one in four chance that the child will develop the disease.
Since the defective gene can now be located precisely, it is possible to determine before the child is born whether it will become ill or not. Due to the defect, the membrane protein is put together incorrectly, so that the secretions are also affected and take on a viscous consistency. This causes the cells to dry out and salivary glands, sweat glands and the glands in the lungs to become clogged with the viscous liquid. If the defective gene has been inherited, the onset of cystic fibrosis can no longer be prevented.
Symptoms, Ailments & Signs
The symptoms of cystic fibrosis vary greatly from person to person and can affect several organ systems: the digestive and respiratory tracts are usually affected. Chronic coughing with mucus production, impaired digestion and the associated underweight are the most common signs of the disease. Very tough stool in newborns can give the first indication, occasionally this is accompanied by an intestinal obstruction.
As a further consequence, severe flatulence, greasy diarrhea and vomiting with bile admixture can occur. Small children have a fat belly, while the extremities appear extremely thin. The children often suffer from abdominal pain, do not gain enough weight and do not tolerate fatty foods well. Those affected often develop diabetes mellitus when they are young.
Due to the increased production of very viscous mucus in the lungs, there is a hacking cough at night, which is similar to whooping cough and leads to severe shortness of breath. The rattling breathing is striking, the children are often very restless. Due to the high susceptibility to infection, the chronic cough can always turn into bronchitis or pneumonia.
Occasionally, pulmonary bleeding occurs, which is noticeable by coughing up bloody mucus. The nasal mucosa tends to swell, sinus infections are not uncommon and make breathing difficult. Nasal polyps are also more common in children with cystic fibrosis.
Course of the disease
Once cystic fibrosis has broken out, there are symptoms that are mainly due to the fact that the secretions of the affected person are thickened and a viscous liquid is produced. Problems are therefore mainly in the lungs and pancreas.
Although the disease can now be treated due to medical advances, the function of the organs is restricted. Above all, patients complain about an extremely unpleasant shortness of breath, which can even lead to death by suffocation. The symptoms are becoming more and more difficult to bear, since cystic fibrosis takes a lot of strength from those affected over the long term.
Those affected by cystic fibrosis suffer from coughing and severe shortness of breath. The shortness of breath can lead to dizzy spells or panic attacks and thus significantly reduce the patient’s quality of life. The shortness of breath can also lead to a loss of consciousness, in which the person concerned can also injure themselves.
Furthermore, those affected experience diarrhea or flatulence and thus significant restrictions in everyday life. There is also abdominal pain. In the worst case, the breathing difficulties can lead to the death of the patient. As a rule, the patient’s resilience also decreases and fatigue and exhaustion occur. Not infrequently, the permanent pain also leads to depressive moods and other psychological complaints.
Unfortunately, it is not possible to treat cystic fibrosis causally. However, the symptoms can be reduced by eating the right food and taking medication. It cannot be universally predicted whether cystic fibrosis will lead to a reduced life expectancy. In many cases, those affected are also dependent on laxatives.
When should you go to the doctor?
A doctor’s visit is necessary if the person concerned suffers from symptoms such as coughing, severe flatulence or diarrhea. If there is repeated mucus secretion when coughing, you should see a doctor for a check-up. Digestive disorders, a loss of appetite and a decrease in body weight are signs of an existing irregularity that should be clarified by a doctor. If the person concerned is severely underweight, the person concerned can develop an acute health condition without adequate medical care.
Children in particular belong to the risk group and are particularly at risk. Since the organism is undersupplied with nutrients, there is a timely need for action and care in severe cases. Constipation and an intestinal blockage must be examined and treated. A chronic cough, dry cough and a loss of the usual performance are worrying.
If the person concerned suffers from an increased susceptibility to infection, diffuse bleeding or respiratory disorders, a doctor’s visit is advisable. If you have breathing noises, difficult breathing or shortness of breath, you need a doctor. Anxiety, mood swings and behavioral problems should also be reported to a doctor if they last for a long time or steadily increase in intensity. If a general malaise sets in or if everyday requirements can no longer be met as usual, the person concerned needs medical help.
Treatment & Therapy
Since genetic research has not yet been sufficiently developed, cystic fibrosis cannot yet be cured. Nevertheless, there are ways to at least treat the symptoms and extend the lifespan of those affected. Taking many different medications can relieve some of the symptoms. Diet is also important in treatment. Since the disease takes a lot of strength, high-calorie (high-calorie) food should be eaten that gives the patient enough energy.
Another problem is that the enzymes in proteins and fats are not properly absorbed by the body, so these are best taken in the form of supplements. Since many sufferers of cystic fibrosis often also suffer from digestive problems, lactulose, a laxative, can have a positive effect on the stomach and intestines.
In the case of cystic fibrosis, those affected usually do not have any special or direct measures or options for aftercare, since it is a hereditary disease. For this reason, the patient should consult a doctor at the very first signs and symptoms in order to prevent the occurrence of further complications and discomfort.
A genetic examination and counseling should also be carried out if you wish to have children, so that the disease cannot recur in the descendants and children. Most people affected by cystic fibrosis are dependent on regular checks and examinations by a doctor. The internal organs in particular must be checked regularly in order to detect and treat damage at an early stage.
In general, the person affected should ensure a healthy lifestyle, and a healthy diet is also very important. The doctor can help create a diet plan. Alcohol and cigarettes should be avoided. Medication can also be taken for intestinal complaints, whereby care must always be taken to ensure the correct dosage. In most cases, those affected with cystic fibrosis have no further follow-up measures available.
Outlook & Forecast
Due to the fact that the disease is caused by genetic changes, it is not curable. The life expectancy and the quality of life of those affected are usually noticeably reduced. Without special therapy, the state of health deteriorates rapidly and those affected usually do not live long without treatment. However, it is possible to slow down the course of the disease considerably. With the help of consistent and timely therapy, patients nowadays live significantly longer than a few years ago. The average life expectancy is currently around 40 – 50 years. However, many patients live with the disease for many more years.
Even with intensive therapy, however, some complications can occur again and again. Those affected most often suffer from acute shortness of breath due to poor ventilation of the lungs. Individual parts of the lungs can also collapse. Chronic bronchitis or pneumonia often occurs. In addition, fungi can easily infest the lungs. In addition, an imbalance in fluid and electrolyte balance can lead to shock and circulatory failure.
Furthermore, in some cases, reduced fertility in women and infertility in men can occur. Patients should seek genetic counseling if they wish to have children. A genetic test is carried out to see whether the carrying CFTR gene shows any changes. Depending on this, it is possible to calculate how high the risk is for the offspring.
You can do that yourself
Strict adherence to the treatment plan prescribed by the doctor is extremely important in order to avoid complications of cystic fibrosis and to keep the quality of life stable over a long period of time. This includes inhalations, regular physiotherapy exercises and individually tailored drug therapy.
Diet also plays a major role: a varied, high-calorie mixed diet is recommended, which can also be enriched with healthy fats (e.g. vegetable oils) due to the increased energy requirement. In addition to the three main meals, CF patients should plan several snacks between meals. Anything that tastes good and whets the appetite is allowed. During meals, the patient must not forget to take digestive enzymes so that the nutrients can be absorbed by the body.
Sporting activities can also have a positive effect on the course of the disease. Endurance sports such as running, cycling, hiking, swimming and dancing are particularly suitable, and a visit to the gym is also an option. Before starting a training session, an individual training plan should be drawn up after a thorough examination with the doctor treating you, which takes physical performance and, in particular, lung capacity into account.
It is also important for cystic fibrosis patients to comply with stricter hygiene rules in order to reduce the risk of pneumonia. Washing your hands thoroughly, changing toothbrushes, bed linen, and towels regularly, and carefully cleaning your inhaler can all help.