Cystic fibrosis: diagnosis, therapy and life expectancy

Cystic fibrosis (or cystic fibrosis) is a condition that affects the exocrine glands (glands that release substances outside the body or in organs that communicate with the outside).

Diagnosis of cystic fibrosis

Cystic fibrosis can be diagnosed in three phases:

• during prenatal screening,
• in the postnatal period,
• in the early stages.

Early diagnosis can prevent damage to the lungs that begins as early as childhood, such as bronchiectasis.

Prenatal screening
In pregnant women, two examinations can be performed:

• Villocentesis, which is a small sampling of the chorionic villi (a part of the placenta).
• Amniocentesis: the study of the amniotic fluid.

By means of these test samples, the following are determined:

• the DNA of the cells to detect possible mutations of the fetal genes,
• fetal intestinal enzymes,
• in a fetus with cystic fibrosis, fetal intestinal enzymes are reduced.

After birth
In newborns, the immunoreactive trypsinogen (IRT) test is performed.
Elevated trypsinogen levels indicate that CF is present.
To confirm the diagnosis, doctors can also conduct the following examinations:

1. pulmonary function test,
2. sputum culture,
3. stool examination,
4. X-ray (chest X-ray).
5. The genetic tests are used to detect the genes in cystic fibrosis. These tests are indicated in healthy carrier pairs with an increased risk of having a sick child.

In these cases, the investigations provide security.
In other cases, these tests may give false results and the disease may go undiagnosed.

Sweat test or sweat test for cystic fibrosis

The function of the sweat glands is the secretion and release of sodium chloride and other mineral salts.
People with cystic fibrosis have sweat glands that do not absorb sodium and chlorine properly.
The result is an increased concentration of chlorine and sodium in sweat.

For the diagnosis of cystic fibrosis, the sweat test is the most important examination.
The sweat electrolyte test is used to diagnose cystic fibrosis:

• in children,
• in young adults.

In this test, the amount of electrolytes such as sodium, potassium and chlorine in the sweat of the patients is determined.

Today, this test is part of a newborn screening in many countries.

Values of chlorine in sweat
Adults and children

• If the concentration of chlorine is at least 60 mmol/l, the result is positive.
• If the value is below 40 mmol/l, the result is negative (healthy person).
• The interval between 40 and 60 mmol/l is considered borderline (a mild form of cystic fibrosis). In this case, repetition of the examination is recommended.

Newborns (0-6 months):

• A chlorine concentration of less than 30 mmol/l is considered normal.
• If the concentration exceeds 60 mmol/l, the newborn suffers from cystic fibrosis
• The limit value is 30-60 mmol/l (atypical cystic fibrosis).

Treatment of cystic fibrosis

Currently, there is no therapy for a definitive cure for this disease.

Gene therapy
Therapies have been developed to treat the gene mutation in cystic fibrosis.
The therapy consists of introducing the copy of a healthy gene pair into the cells of the lung tissue via:

• virus particles,
• Aerosol.

In this way, the cells should produce the CFTR protein correctly by copying healthy genetic information.
Currently, there are hardly any results of this therapy, but some experimental studies are underway.

Therapy for the lungs

• Respiratory infections are common in individuals with cystic fibrosis.
• Antibiotics (oral, intravenous or inhaled) are given to treat the infections
• Azithromycin (Zithromax) is most commonly prescribed because scientific studies have shown improvement in patients with cystic fibrosis, especially in the treatment of Mycobacterium abscessus, which is highly resistant to other pharmaceuticals.
• Anti-inflammatory drugs such as ibuprofen may be prescribed to relieve inflammation of the lungs.
• Bronchodilators such as salbutamol (Ventolin) are recommended by the doctor to relax the respiratory muscles.
• Hypertonic saline and acetylcysteine are prescribed for mucus liquefaction (they reduce viscosity).
• To enrich oxygen in the blood, oxygen therapy can be performed.

If the patient suffers from severe pulmonary complications, the doctor may recommend a lung transplant (of both lungs).

Treatment of the digestive system

Digestive problems can be reduced by a balanced diet.
Pancreatic enzymes in the form of tablets are prescribed for:

• facilitating the digestion of proteins and fats,
• Absorption of vitamins.

Vitamin supplementation A, D, E and K are recommended for increasing fat-soluble vitamins.
Other treatments for indigestion include:

• enemas,
• drugs to liquefy mucus to prevent intestinal narrowing (intestinal obstruction),
• acid-blocking drugs for heartburn and to enhance the effect of therapeutic oral pancreatic enzymes.

Physiotherapy for cystic fibrosis

For the outflow of secretions, respiratory physiotherapy can be very effective.
The aim is to stimulate and facilitate the coughing mechanism by which mucus is expelled from the body.
There are therapies that are to be carried out with the physiotherapist, for example, vibrations in different positions.
Also, some exercises with the PEP bottle or with other devices should be carried out regularly at home.

Regular physical activity is part of the therapy.

To achieve good results, the patient should spend about 2-3 hours a day on:

• Aerosol
• Respiratory physiotherapy
• Sporting activity

Life expectancy and prognosis for patients with cystic fibrosis

Even though there is no cure for cystic fibrosis so far, many years of research have led to some positive results.
Most importantly, life expectancy is extended, even if a cure is not possible.
Currently, the average life expectancy is 35-40 years thanks to advances in diagnosis and therapy.

Before 1950, children born with this disease survived less than 6 years.
Patients want to know how long they live, but the answer is not simple, because this depends on many elements.
The factors that can influence the lifespan of cystic fibrosis sufferers are:

• Pancreatic function: The normal function of the pancreas is a crucial factor that plays an important role in improving survival rates.
• Newborns with atypical cystic fibrosis can live longer than 50 years if pancreatic function is good.
• Age: The life expectancy of a person born in the eighties is lower than that of a person born in the nineties or later.
• Recently born people have better treatment options.
• Other diseases: Chronic infection with Pseudomonas aeruginosa can worsen the symptoms of cystic fibrosis and negatively affect life expectancy.
• Even if allergies have a negative effect, they only marginally change the life expectancy of patients.
• Type of mutation: The severity of symptoms and survival rate may also vary due to the type of genetic mutation.
• Cystic fibrosis is caused by changes in CFTR genes.
• Less common mutations can cause milder symptoms and allow for longer survival.

Statistics show that life expectancy is much greater in patients who have received a lung transplant.

Today, screening programs in newborns in many countries include testing for cystic fibrosis so that treatment can begin as early as possible.

How can cystic fibrosis be prevented?

One can perform genetic testing on family members of a person suffering from cystic fibrosis.
This makes it possible to find out whether a gene can be responsible for this disease.

A couple who wants to have a child should have a DNA analysis done to:

• detect possible genetic mutations,
• reduce the risk of transmitting genetic diseases to the child.

Diet and nutrition for cystic fibrosis

A person suffering from cystic fibrosis needs a diet high in calories and protein, about 50% more than healthy people.
The reason for this is malabsorption, the sick person can not absorb the nutrients that the organism needs from the food.
In addition, a person who is well fed is able to fight:

• lung infections,
• other diseases.

A high-fat diet is important because CF sufferers lose a lot of fat with their stool.

Since many people with cystic fibrosis suffer from diabetes, they must avoid:

• Sweet
• Muesli

On the basis of hygienism (a type of natural medicine))

Hygienists do not cure the symptom, but advise a diet and lifestyle to prevent disease.
In cystic fibrosis, the protein-rich diet overloads the digestive system and especially the pancreas, which does not function properly due to the disease.
According to hygienism, the main diet consists of fruit, because:

• it contains amino acids instead of proteins. Proteins are very complex structures consisting of many interconnected amino acids. For the body, the digestion of amino acids is much easier and faster, because there is no need to break chemical bonds between the amino acids. About 1-2% of the weight of fruits and vegetables consists of amino acids.
• it contains vitamins and mineral salts,
• it is digested quickly.

To reduce mucus production and prevent infection, hygienists recommend a diet based on:

• Fruit
• raw vegetables,
• Potatoes
• Seeds and nuts (in moderation).

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