Cystic Fibrosis: Causes, Symptoms & Treatment

Cystic fibrosis (CF) is a hereditary disease that is most common among white people. The typical sign of cystic fibrosis is the formation of viscous mucus in the lungs and pancreas. As a result, there is severe impairment of the internal organs.

What is cystic fibrosis?

Schematic diagram showing the anatomy of the lungs and bronchi in cystic fibrosis. Click to enlarge. Cystic fibrosis (CF) is a metabolic disease that is primarily due to a genetic defect. It is now suspected that about 4 million Germans carry at least the gene responsible for inheritance. The symptoms are complex and difficult to recognize, as they are often confused with other diseases such as asthma or bronchitis. For example, affected individuals often suffer from pneumonia and shortness of breath. Disorders affecting growth and underweight are also typical complaints of the disease. A few years ago, the life expectancy of patients was a maximum of 5 years, but now children diagnosed with cystic fibrosis can reach an average longevity of 40 years.

Causes

The cause of cystic fibrosis is a genetic defect that is passed on. However, for the disease to develop, both parents must carry the defective gene and pass it on to the child. Since inheritance is autosomal recessive and not dominant, a pair of parents in which only one of them 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 precisely localized, it is possible to determine even before the child is born whether it will develop the disease or not. Due to the defect, the membrane protein is incorrectly composed, 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 by the viscous fluid. Once the defective gene has been inherited, the onset of cystic fibrosis can no longer be prevented.

Symptoms, complaints, and signs

The symptomatology of cystic fibrosis varies greatly from individual to individual and can affect multiple organ systems: Most commonly, the digestive tract and respiratory tract are affected. Chronic cough with mucus production, impaired digestion and associated underweight are the most common signs of the disease. The first indication may be very tough stools in newborns, occasionally accompanied by intestinal obstruction. In further consequence strong bloating, greasy diarrhea and vomiting with bile admixtures can occur. In infants, a thick abdomen is noticeable, while the extremities appear extremely thin. The children often suffer from abdominal pain, gain insufficient weight and have a poor tolerance for fatty foods. In adolescence, affected individuals often develop diabetes mellitus. Due to the increased production of very viscous mucus in the lungs, there is a nocturnal irritating cough that resembles whooping cough and leads to severe shortness of breath. The rattling breathing is striking, and the children are often very restless. Because of the high susceptibility to infection, the chronic cough can repeatedly turn into bronchitis or pneumonia. Occasionally, pulmonary hemorrhages occur, indicated by the coughing up of bloody mucus. The nasal mucosa tends to swell, sinusitis is not uncommon and makes breathing difficult. Nasal polyps also occur more frequently in children with cystic fibrosis.

Disease progression

Once cystic fibrosis has set in, symptoms occur, mainly because the affected person’s secretions are produced in a thickened form, resulting in a viscous fluid. Problems therefore occur mainly in the lungs and in the pancreas. Although the disease can now be treated due to medical advances, the function of the organs is nevertheless restricted. Patients complain above all of extremely unpleasant shortness of breath, which can even lead to suffocation. The discomfort becomes increasingly difficult to bear, as cystic fibrosis takes a lot of energy from the affected person in the long run.

Complications

Due to cystic fibrosis, the affected person suffers 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. Breathlessness can also lead to a loss of consciousness, during which the patient may also injure himself. Furthermore, the affected person suffers from diarrhea or flatulence and thus has significant limitations in everyday life. There is also pain in the abdomen. In the worst case, breathing difficulties can lead to the death of the patient. As a rule, the patient’s ability to cope with stress 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 limited by a proper diet and by taking medication. It cannot be universally predicted whether cystic fibrosis will result in a reduced life expectancy. In many cases, affected individuals also rely on laxatives.

When should you see a doctor?

A visit to the doctor is necessary if the affected person suffers from symptoms such as coughing, severe flatulence or diarrhea. If there is repeated secretion of mucus when coughing, a check-up visit to a doctor should be made. Disturbances of the digestion, a loss of appetite as well as a decrease of the body weight are signs of an existing irregularity, which should be clarified by a physician. If there is a severe underweight, it can lead to an acute health condition of the affected person without adequate medical care. Especially children belong to the risk group and are particularly at risk. Since the organism is undersupplied with nutrients, there is a need for timely action and supply in severe cases. Constipation as well as intestinal obstruction should be investigated and treated. A chronic cough, irritable cough, as well as a loss of usual performance are worrisome. If the affected person suffers from an increased susceptibility to infections, diffuse bleeding or disturbances in respiratory activity, a visit to the doctor is advisable. If there are breath sounds, difficult breathing, or shortness of breath, a physician is needed. Anxiety, mood swings as well as behavioral abnormalities should also be presented to a doctor as soon as they persist over a longer period of time or steadily increase in intensity. If a general feeling of malaise sets in or everyday requirements can no longer be met as usual, the affected person requires medical assistance.

Treatment and therapy

That genetic research is not yet developed far enough, cystic fibrosis can not be cured until now. Nevertheless, there are ways to at least treat the symptoms and extend the life of those affected. Some of the symptoms can be alleviated by taking many different medications. However, diet is also important in the treatment. Since the disease takes a lot of energy, high-calorie (calorine-rich) food should be eaten first and foremost to give the patient enough energy. Another problem is that the enzymes of proteins and fats are not properly accepted by the body, so they are best administered in the form of supplements. Since many people affected by cystic fibrosis often also suffer from digestive problems, lactulose, a laxative, can have a positive effect on the stomach and intestines.

Follow-up

There are usually no special or direct measures or options for aftercare available to the person affected by cystic fibrosis, as it is a hereditary disease. For this reason, the patient should see a doctor at the first signs and symptoms to prevent the occurrence of further complications and symptoms. Also, if the patient wishes to have children, genetic testing and counseling should be done to prevent the disease from recurring in the descendants and children. Most people affected by cystic fibrosis are dependent on regular check-ups and examinations by a doctor. In particular, the internal organs must be checked regularly in order to detect and treat damage at an early stage. In general, the affected person should pay attention to a healthy lifestyle, and a healthy diet is also very important. The doctor can help with the preparation of a diet plan. Alcohol and cigarettes should be avoided.Medication can also be taken for intestinal problems, although care must always be taken to ensure the correct dosage. In most cases, no further measures of follow-up care are available to the person affected by cystic fibrosis.

Outlook and prognosis

Due to the fact that the disease is caused by hereditary changes, it is not curable. The life expectancy as well as the quality of life of those affected are usually noticeably reduced. Without a special therapy, the state of health deteriorates rapidly and affected persons 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 they did a few years ago. The average life expectancy is currently around 40 – 50 years. However, many patients live many more years with the disease. Even with intensive therapy, however, some complications can still occur. Most frequently, patients suffer from acute shortness of breath due to poor lung ventilation. Individual parts of the lungs can also collapse. Chronic bronchitis or pneumonia often occurs. In addition, fungi can easily infect the lungs. In addition, a disturbed balance in the fluid and electrolyte balance can lead to shock and circulatory failure. Furthermore, in some cases, limited fertility in women and infertility in men may occur. Patients should seek genetic counseling if they wish to have children. A genetic test is performed to determine whether the gene carrying CFTR shows any changes. Depending on this, it can be calculated how high the risk is for the offspring.

What you can do yourself

Strict adherence to the treatment plan prescribed by your doctor is exceedingly important to avoid complications of cystic fibrosis and to keep your quality of life stable for a long time. This includes inhalations, regular performance of physiotherapy exercises and individually tailored drug therapy. In addition, nutrition plays a major role: a varied, high-calorie mixed diet is recommended, which can be additionally enriched with healthy fats (for example, vegetable oils) due to the increased energy requirements. In addition to the three main meals, cystic fibrosis patients should plan several snacks. Basically, anything that tastes good and stimulates the appetite is allowed. During meals, the patient must not forget to take digestive enzymes so that the nutrients can be absorbed by the organism. Sports activities can also positively influence the course of the disease. Endurance sports such as running, cycling, hiking, swimming and dancing are particularly suitable, as is a visit to the gym. Before taking up any training, an individual training plan should be drawn up after a thorough examination with the attending physician, taking into account the physical capacity and, in particular, the lung capacity. It is also important for cystic fibrosis patients to follow stricter hygiene rules to reduce the risk of pneumonia. Thorough hand washing, changing toothbrushes, bed linens, and towels regularly, and carefully cleaning the inhaler can help.