Cystic Fibrosis: Information & Cystic Fibrosis Specialists

In cystic fibrosis, the CFTR gene on chromosome 7 is mutated. The mutation causes the body’s secretions to have a lower water content.

Ultimately, this leads to severe impairment of various organ functions. As a result, chronic inflammation develops in the organs, which destroys them over the long term.

The lungs are particularly frequently affected

• the lungs,
• the pancreas, and
• the digestive organs.

Cystic fibrosis is incurable. The average life expectancy for a person with cystic fibrosis is approximately 32 years.

On average, one in 2,500 people has cystic fibrosis. Thus, cystic fibrosis is a relatively rare disease. At the same time, it is one of the most common congenital metabolic disorders.

The underlying cause of cystic fibrosis is a genetic abnormality—that is, a genetic mutation. It is caused by a mutation in the CFTR gene on chromosome 7.

CFTR stands for “cystic fibrosis transmembrane conductance regulator.” The mutation in the CFTR gene disrupts the salt and water balance in all of the body’s glands. These glands produce mucus that is too thick, which causes long-term damage to the organs. The salt content—for example, in sweat—is also significantly elevated.

However, cystic fibrosis usually only occurs when affected individuals have inherited a mutated gene from both parents. If only one parent passes on the affected gene, the healthy gene from the other parent can “override” the defective gene. The child therefore does not develop the disease, but can in turn pass on the defective gene.

Illustration of autosomal recessive inheritance © Kashmiri, based on earlier work by Domaina: Autosomal recessive - en.svg, CC BY-SA 3.0

Cystic fibrosis can affect nearly any organ. For this reason, it is classified as a multi-organ disease.

Depending on the organ, different symptoms may appear, as listed below.

Lungs

In the lungs, thick mucus clogs the bronchi. The mucus is difficult to clear and often becomes trapped. This causes permanent narrowing of the airways. Infections frequently develop as a result of the trapped mucus.

Gradually, the bronchi are destroyed until the lungs ultimately fail.

Typical symptoms of cystic fibrosis affecting the lungs include:

• Cough
• Chronic bronchitis
• Chronic sinusitis
• Frequent lung infections and inflammation
• Chronic oxygen deficiency
• Shortness of breath (dyspnea)
• Bronchiectasis

Intestines

Intestinal obstruction in newborns is often an early sign of cystic fibrosis. In most cases, the stool of those affected is very thick and contains very little liquid.

Typical symptoms of cystic fibrosis affecting the intestines include:

• Thick intestinal secretions
• Digestive disorders
• Underweight

Pancreas

The thick mucus associated with cystic fibrosis can also block the pancreatic ducts. This results in a lack of digestive enzymes needed to break down food in the intestines.

Typical symptoms of cystic fibrosis affecting the pancreas include:

• Abdominal pain
• Bloating
• Underweight
• Fatty, sticky stools
• Type 1 diabetes

The thick mucus caused by cystic fibrosis can block various passages © bilderzwerg | AdobeStock

Liver

Recurrent inflammation of the bile ducts and the formation of gallstones are also typical of cystic fibrosis. They result from the thick, viscous bile secretion. A long-term consequence of this can be liver cirrhosis.

Reproductive organs

Nearly all males with cystic fibrosis are infertile because the thick mucus blocks the vas deferens.

Female patients, on the other hand, are generally fertile. However, fertility may be impaired due to years of the disease and blockage of the fallopian tubes.

Skin

The sweat of people with cystic fibrosis often tastes particularly salty.

There are several methods available today for diagnosing cystic fibrosis.

Newborns undergo a routine blood test in the hospital. If the immunoreactive trypsin (IRT) level is elevated, cystic fibrosis is suspected. In people with the condition, the salt concentration in sweat is noticeably higher. For this reason, a so-called sweat test is performed as the next step.

Meconium (the stool of newborns) is also tested for specific proteins. Furthermore, DNA analysis can provide definitive proof and identify the type of genetic mutation.

However, due to the large number of mutations, the mutation in the CFTR gene may remain undetected and undetermined. In the field of early detection (prenatal diagnosis), unborn children can be tested for genetic mutations in the CFTR gene. This is done through amniocentesis.

Subsequently, the affected organs, such as the lungs, are examined using X-rays and other methods. Regular monitoring of the disease’s progression is also necessary.

Cystic fibrosis is generally incurable. Therefore, doctors can only treat the symptoms of the disease.

However, starting treatment early in childhood is recommended. This can positively influence the course of the disease and significantly increase the life expectancy of those affected.

Cystic fibrosis affects multiple organs. Therefore, each complication must be treated individually.

The following is an overview of the various treatment options for cystic fibrosis:

• Administration of digestive enzymes (pancreatin)
• Administration of fat-soluble vitamins
• A balanced, high-calorie diet
• Antibiotics to treat bacterial infections
• Mucolytic medications
• Respiratory therapy (autogenic drainage)
• Inhalation
• Physical therapy
• Endurance sports (as long as health permits)
• Oxygen therapy
• Bronchodilator medications
• Lung transplant