What is Cystic Fibrosis? What are the Causes, Symptoms and Treatment?

Cystic fibrosis is a genetic disease that mostly affects the lungs and digestive system. It is caused by an error in a particular gene. You can find more information below.

What is cystic fibrosis?

cystic fibrosis ; It is a genetic disease that limits life and reduces the functions of mucus and sweat glands . It affects the entire body, but mainly affects the respiratory system (lungs), digestive system (pancreas and sometimes liver), and reproductive system.

When a person has cystic fibrosis, their mucus is very thick and sticky. It is difficult for people with this genetic disease to clear phlegm from their lungs. It clogs tiny air passages and traps bacteria. This causes recurrent infections and blockages that can cause irreversible lung damage over time.

In the case of cystic fibrosis, thick mucus in the digestive tract can also affect the transfer of digestive enzymes from the pancreas to the small intestine. This causes difficulties in digesting fats and absorbing certain nutrients, and also means that people with the disease may have nutritional problems and must consume a diet high in fat and salt.

Causes of cystic fibrosis

In cystic fibrosis, a mutation in a gene—the cystic fibrosis transmembrane conductance regulator (CFTR) gene—changes a protein that regulates the movement of salt in and out of cells. The result is an increase in salt in sweat as well as thick, sticky mucus in the respiratory, digestive and reproductive systems.

Many different defects can occur in the gene. The type of gene mutation is related to the severity of the condition.

Children must inherit one copy of the gene from each parent to have the disease. Children will not develop cystic fibrosis if they inherit only one copy. However, in this case they will be carriers and can pass the mutated gene to their offspring.

Who is at risk?

Since cystic fibrosis is an inherited disease, it is seen among family members, so family health history is a risk factor. Although Cystic fibrosis can occur in all races, it appears to be more common in white people of Northern Europe.

Cystic fibrosis symptoms

Because of newborn screening in many countries, cystic fibrosis may be diagnosed in the first month of life before symptoms develop. But babies born before newborn screening may not be diagnosed until signs of cystic fibrosis appear.

Symptoms of cystic fibrosis vary depending on the severity of the disease. Even in the same person, symptoms may worsen or improve over time. Some people may not experience symptoms until their teenage years or adulthood.

People who are not diagnosed until adulthood usually have a milder illness and are more likely to have atypical symptoms such as recurrent inflammatory pancreatic seizures (pancreatitis), infertility (infertility), and recurrent pneumonia.

People with cystic fibrosis have a higher-than-normal salt level in their sweat. Parents can often feel the salt when they kiss their children. Many of the other symptoms of cystic fibrosis affect the respiratory and digestive systems.

Respiratory signs and symptoms

The thick, sticky mucus associated with cystic fibrosis clogs the tubes that carry air in and out of the lungs. This condition can cause signs and symptoms such as:

  • A persistent cough that produces thick mucus (phlegm)
  • wheezing when breathing
  • Exercise intolerance (more fatigue of the moving muscle than normal)
  • repeated lung infections
  • Inflamed nasal congestion
  • recurrent sinusitis

Digestive signs and symptoms

Thick mucus can also block the tubes that carry digestive enzymes from your pancreas to your small intestine. Without these digestive enzymes, your intestines cannot fully digest the nutrients in the food you eat. The result will usually be as follows:

  • Foul-smelling, oily stools
  • Poor weight gain and growth
  • Intestinal obstruction, especially in newborns ( meconium ileus )
  • Chronic or severe constipation ( rectal prolapse ) , which may include frequent straining when trying to defecate, eventually causing part of the rectum to protrude out of the anus
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When should you see a doctor?

If you or your child has symptoms of cystic fibrosis or if someone in your family has it, you should talk to your doctor to get tested for the disease.

Cystic fibrosis requires regular follow-up with your doctor, at least every three months. You should also contact your doctor if you experience new or worsening symptoms such as more mucus than normal or a change in mucus color, lack of energy, weight loss, or severe constipation.

You should seek immediate medical attention if you are coughing up blood, have chest pain, trouble breathing, or have severe stomach pain and discomfort.

Cystic fibrosis diagnosis

To diagnose cystic fibrosis, doctors usually do a physical exam, review your symptoms, and run several tests.

Newborn screening and diagnosis

For example, every state in the US now routinely screens newborns for cystic fibrosis. Early diagnosis means that treatment can begin right away.

In a screening test; The blood sample is checked for higher than normal levels of a chemical called immunoreactive trypsinogen (IRT) released by the pancreas . The newborn’s IRT levels may be high due to preterm labor or stressful delivery. Therefore, other tests may be needed to confirm the diagnosis of cystic fibrosis.

To assess whether a baby has cystic fibrosis, doctors may do a sweat test when the baby is at least 2 weeks old. A sweat-producing chemical is applied to a small area of ​​skin.

Sweat is then collected to test it and see if it is saltier than normal. Tests performed in a care center accredited by the Cystic Fibrosis Foundation help ensure reliable results.

Doctors may also recommend genetic testing for specific defects on the gene responsible for cystic fibrosis. In addition to checking IRT levels, genetic testing may be used to confirm the diagnosis.

Testing older children and adults

Cystic fibrosis tests may be recommended for older children and adults who were not screened at birth. If you have an inflamed pancreas, nasal polyps (small masses that form around the sinus), chronic sinus, lung infections, bronchiectasis (damage or thickening of the bronchi in the lung), or episodes of male infertility (infertility), your doctor may recommend genetic and sweat testing for cystic fibrosis.

Cystic fibrosis treatment

There is no clear targeted therapy for cystic fibrosis, but treatment can alleviate symptoms, reduce complications, and improve quality of life. Close monitoring and early, serious intervention that can lead to a longer life is recommended to slow the progression of cystic fibrosis.

The goals of treatment include:

  • Prevention and control of infections in the lungs
  • Removal and loosening of mucus in the lungs
  • Treating and preventing intestinal obstruction
  • Providing adequate nutrition

Medication

Options include:

  • Medicines that target gene mutations, including a new drug that combines three drugs to treat the most common genetic mutation that causes cystic fibrosis
  • antibiotics to treat and prevent lung infections
  • anti-inflammatory drugs (anti-inflammatory) to reduce swelling in the airways in your lungs
  • Mucus-thinning medications, such as hypertonic saline, to help you cough up mucus, which can improve lung function
  • Inhaled medications called bronchodilators, which can help keep your airways open by relaxing the muscles around the bronchial tubes
  • oral pancreatic enzymes that help your digestive system absorb nutrients
  • Stool softeners to prevent constipation or intestinal obstruction
  • Acid-reducing medications that help pancreatic enzymes work better
  • Specific medications for diabetes or liver disease when appropriate

Remember, your doctor will decide which medicine to take and how.

Drugs that target genes

For those with cystic fibrosis disease with certain gene mutations, doctors may recommend cystic fibrosis transmembrane conductivity regulator (CTFR) modulators. These new drugs help improve the function of the faulty CFTR protein. They can improve lung function and structure and reduce the amount of salt in sweat.

The FDA has approved the following drugs for the treatment of cystic fibrosis in people with one or more mutations in the CFTR gene:

  • The newest combination medicine containing elexacaftor, ivacaftor, and tezacaftor is approved for people 12 years of age and older and is considered effective by many experts.
  • The combination medicine containing tezakaftor and ivacaftor is approved for people 6 years of age and older.
  • The combination medicine containing lumacaftor and ivacaftor is approved for people 2 years of age and older.
  • Ivacaftor is approved for people 6 months of age and older.

Doctors may perform liver function tests and eye exams before prescribing these medications. While taking these drugs, regular testing is needed to check for side effects such as liver function abnormalities and cataracts. You should consult your doctor about possible side effects and what to watch out for.

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You should have regular follow-up appointments so that your doctor can monitor you while taking these medications. You should talk to your doctor about the side effects you experience.

Remember, your doctor will decide which medicine to take and how.

Airway clearance techniques

Airway clearing techniques, also called chest physical therapy (GFT), can clear mucus congestion and help reduce infection and inflammation in the airways. These techniques loosen the thick mucus in the lungs, making it easier to cough.

Airway clearing techniques are usually done several times a day. Different types of GFTs can be used to loosen and remove mucus, and a combination of techniques such as:

  • Fluid intake and humidification of the respiratory tract to facilitate mucus secretion
  • Some breathing exercises and coughing techniques can also be used to help loosen mucus.
  • Mechanical devices can help loosen lung mucus. Devices include a tube you blow into and a machine that blows air into the lungs. Vigorous exercise can also be used to clear mucus.

Your doctor will instruct you on the type and frequency of chest physical therapy that is most appropriate for you.

pulmonary rehabilitation

Your doctor may recommend a long-term program that can improve your lung function and overall well-being. Pulmonary rehabilitation is usually done on an outpatient basis and may include:

  • physical exercise that can improve your condition
  • Breathing techniques that can help loosen mucus and improve breathing
  • Nutrition counseling
  • Consulting and support
  • Education about your condition

Surgery and other procedures

Options for specific conditions caused by the cystic fibrosis condition include:

  • Nasal and sinus surgery: Your doctor may recommend surgery to remove nasal polyps (flesh masses that form in your nasal passages) that interfere with breathing. Sinus surgery can be done to treat chronic sinusitis.
  • Oxygen therapy: If your blood oxygen level drops, your doctor may recommend breathing pure oxygen to prevent high blood pressure in the lungs ( pulmonary hypertension ).
  • Non-invasive ventilation: Typically used while sleeping, noninvasive ventilation is a nose or mouth mask applied without the need for an endotracheal tube (injection of a thin tube into the airway through the mouth) used to maintain positive pressure in the airway and lungs while breathing. It is often used in conjunction with oxygen therapy. Non-invasive ventilation can increase air exchange in the lungs and reduce the work of breathing. Treatment can also help clear the airway.
  • Feeding tube: Cystic fibrosis interferes with digestion, so you may not be able to digest nutrients from food very well. Your doctor may recommend using a feeding tube to provide extra nutrition. This tube may be a temporary tube inserted into your nose and guided into your stomach, or the tube is surgically inserted into your abdomen. The tube can be used day or night to give extra calories and does not prevent oral eating.
  • Bowel surgery: If a blockage develops in the bowel, surgery may be needed to remove it. Such an intervention is necessary as a result of the intrusion of one part of the intestine into another part of the intestine and requires a surgical procedure.
  • Lung transplant: If you have severe breathing problems, life-threatening lung complications, or an increased resistance to antibiotics for lung infections, a lung transplant may be an option. The disease does not recur in the transplanted lungs. However, other complications associated with this disease, such as sinus infections, diabetes, pancreatic conditions, and osteoporosis , can occur after a lung transplant.
  • Liver transplant: For severe cystic fibrosis-related liver disease, such as cirrhosis, a liver transplant may be an option. In some people, a liver transplant may be combined with a lung or pancreas transplant.

Can cystic fibrosis be prevented?

If you or your partner has cystic fibrosis, you may choose to have genetic testing before both of you have children. Experimenting a blood sample in a lab can help determine the risk of giving birth to a child with this genetic disease.

If you are already pregnant and genetic testing shows your baby is at risk for cystic fibrosis, your doctor may perform additional tests on your developing child.

Genetic testing is not for everyone. Before you decide to get tested, you should talk to a genetic counselor about the psychological impact the test results can have.

Complications of cystic fibrosis

Complications can affect the respiratory, digestive and reproductive systems and other organs.

Respiratory system complications

  • Damaged airways (bronchiectasis): Cystic fibrosis is one of the leading causes of bronchiectasis, a chronic lung condition that is abnormal widening and thickening of the airways (bronchial tubes). This makes it difficult to move air in and out of the lungs and clear mucus from the bronchial tubes.
  • Chronic infections: The thick mucus in the lungs and sinuses provides an ideal breeding ground for bacteria and fungi. People with cystic fibrosis can often have sinus infections, bronchitis, or pneumonia.
  • Nasal polyps: Because the lining inside the nose becomes inflamed and swollen, soft, fleshy growths (polyps) may develop.
  • Coughing up blood (hemoptysis): Bronchiectasis can occur near the blood vessels in the lungs. A combination of airway damage and infection can cause coughing up blood. Usually this is just a small amount of blood, but it can be life-threatening.
  • Pneumothorax: In this condition, air leaks into the space that separates the lungs from the chest wall, and part or all of a lung collapses. This is more common in adults with cystic fibrosis. Pneumothorax can cause sudden chest pain and shortness of breath. People often feel a bubbling sensation in their chest.
  • Respiratory failure: Over time, cystic fibrosis can damage lung tissue so badly that it can no longer function. Lung function usually worsens gradually and can eventually be life-threatening. Respiratory failure is the most common cause of death.
  • Acute exacerbations: People with cystic fibrosis may experience worsening of respiratory symptoms such as coughing with more mucus and shortness of breath. This is called an acute exacerbation and requires treatment with antibiotics. Sometimes home treatment can be provided, but hospitalization may also be required. Fatigue and weight loss are also common during flare-ups.
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Digestive system complications

  • Nutritional deficiencies: Thick mucus can block the tubes that carry digestive enzymes from your pancreas to your intestines. Without these enzymes, your body can’t digest protein, fat, or fat-soluble vitamins, so you won’t get enough nutrients. This can result in delayed growth, weight loss, or pancreatitis.
  • Diabetes: The pancreas produces the insulin your body needs to use, and when the pancreas is damaged, the risk of diabetes increases with cystic fibrosis. 20% of teenagers and 40% to 50% of adults with this genetic disease develop diabetes.
  • Liver disease: The tube that carries bile from your liver and gallbladder to your small intestine can become blocked and inflamed. This can lead to liver problems such as jaundice, fatty liver and cirrhosis, and sometimes gallstones.
  • Intestinal obstruction: Intestinal obstruction can happen in people with cystic fibrosis of any age. If necessary, surgical intervention can be performed.
  • Distal bowel obstruction syndrome (DBTS): DBTS is partial or complete obstruction of the area where the small intestine meets the large intestine and requires immediate treatment.

Reproductive system complications

  • Male infertility: Almost all men with cystic fibrosis are infertile because the tube connecting the testicles and prostate gland (vas deferens) is either blocked with mucus or missing altogether. Some fertility treatments and surgical procedures sometimes make it possible for men to become biological fathers.
  • Decreased fertility in women: Although women with cystic fibrosis are less fertile than other women, it is possible for them to conceive and have successful pregnancies. However, cystic fibrosis in pregnancy can worsen symptoms, so be sure to discuss the possible risks with your doctor.

Other complications

  • Thinning of the bones (osteoporosis): People with cystic fibrosis are at risk of developing a dangerous thinning of the bones. They may also experience joint pain, rheumatoid arthritis (arthritis), and muscle pain.
  • Electrolyte imbalances and dehydration: Because people with cystic fibrosis sweat more, the balance of minerals in their blood may be disturbed. This makes the body prone to excessive water and fluid loss, especially during exercise or hot weather. Signs and symptoms include increased heart rate, fatigue, weakness, and low blood pressure.
  • Mental health issues: Coping with an incurable chronic illness can cause fear, depression, and anxiety.

Frequently asked questions about cystic fibrosis

What is the incidence of cystic fibrosis?

There is no study conducted in our country on the incidence of cystic fibrosis. However, a study in the United States revealed that it is a common genetic disease in the white population. The disease occurs in 1 in 2,500 to 3,500 white newborns. This genetic disease is less common in other ethnic groups and affects approximately 1 in 17,000 African Americans and 1 in 31,000 Asian Americans.

How long do cystic fibrosis patients live?

According to 2018 registry data, a child with this genetic disease may live to be at least 44 years old if they were born between 2014 and 2018. If the child was born in 2018, the chance of surviving 47 years or older is 50%.

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