Description

Cystic fibrosis (CF) is an inherited disease that causes damage to the lungs, digestive system and other organs in the body.

CF affects the cells that produce mucus, sweat and digestive juices. These fluids, also called secretions, are generally thin and slippery to protect the internal body of pipes and tubes and make them smooth the way. But in people with CF, a change in the gene causes the secretions to become sticky and thick. The secretions plug up pathways, especially in the lungs and the pancreas.

CF worsens with time and the needs of day care, but people with CF in general can attend school and work. They often have a better quality of life for people with CF had in the last decades. Better detection and treatment mean that people with CF can now live in their mid - to late-50 or more, and some are diagnosed later in life.

Symptoms

In the united states, because of newborn screening, cystic fibrosis can be diagnosed in the first month of life, before symptoms develop. But people born before newborn screening became available may not be diagnosed until the symptoms of CF are displayed.

CF symptoms vary, depending on the organs affected and the severity of the condition. Even in the same person, the symptoms may worsen or improve in different times. Some people may have no symptoms until their late teenage years or early adulthood.

People who are not diagnosed until adulthood tend to have mild symptoms and are more likely to have symptoms that are not typical. These may include repeated attacks of inflammation of the pancreas called pancreatitis, infertility, and repeated bouts of pneumonia.

People with CF have a higher than usual level of salt in the sweat. Parents often can taste the salt when they kiss their children. Most of the other symptoms of CF affects the respiratory system and the digestive system.

Respiratory symptoms

In cystic fibrosis, the lungs are most commonly affected. The thick, sticky mucus that happens with CF obstructs the ducts that carry air in and out of the lungs. This can cause symptoms such as:

  • A cough that does not go away and gets thick mucus.
  • A squeaky sound when breathing is called wheezing.
  • Limited ability to perform physical activity before tired.
  • Lung infections.
  • Irritated and inflamed nasal passages or a stuffy nose.
  • Repeated infections of the sinuses.

Digestive symptoms

The thickness of the mucus caused by cystic fibrosis can block the ducts that carry digestive enzymes from the pancreas to the small intestine. Without these digestive enzymes, gut, sometimes you can not take and use the nutrients of the food. Often the result is:

  • Foul-smelling, bloody greasy.
  • Poor weight gain and growth.
  • The blockage of the intestines, which is more likely to happen in infants.
  • Ongoing or severe constipation. Effort often, while trying to pass stool may lead to part of the rectum to protrude out of the anus. This is called rectal prolapse.

When to see a doctor

If you or your child has symptoms of cystic fibrosis or if someone in your family has CF — talk with your healthcare provider about testing for the condition. Make an appointment with a doctor who has knowledge and experience in the treatment of CF.

CF requires regular follow-up with their health professional at least every three months. Call your health care professional if you have new or worsening symptoms, such as more mucus than normal, or a change in the color of the mucus, lack of energy, loss of weight, severe constipation.

Get immediate medical attention if you have cough with blood, chest pain or difficulty breathing or stomach pain and swelling.

Call 911 or your local emergency number or go to the emergency room of a hospital if:

  • You're having a hard time breathing, or speaking.
  • Your lips or fingernails turn blue or gray.
  • That others see that you are not mentally alert.

Causes

In cystic fibrosis, a change in a gene that causes problems with the protein that controls the movement of salt and water into and out of cells. This is the gene for the cystic fibrosis transmembrane conductance regulator (CFTR) gene. It affects cells that produce mucus, sweat and digestive juices. When the CFTR protein does not work as it should, the result is a thick, sticky mucus in the respiratory, digestive and reproductive systems, as well as the excess of salt in the sweat.

Changes in the CFTR gene that causes CF are divided into different groups based on the problems that they cause. The different groups of the changes in the genes affect the amount of CFTR protein is made and how well it works.

Cystic Fibrosis, children must receive a copy of the changes in the CFTR gene from each parent. If the children get only one copy, they will not develop CF. But will be a carrier and could pass the mutated gene to their own children. People who are carriers may have no symptoms of CF or some of the milder symptoms.

Risk factors

Because cystic fibrosis is a hereditary disease, the family history is a risk factor.

CF occurs in all races, but is more common in white people of ancestry from the North of europe. Because it is less common in people who are Black, Hispanic, Middle Eastern, Native American, or Asian, this could lead to a late diagnosis.

A late diagnosis can worsen health problems. Early and effective treatment can improve your quality of life, prevent complications and help you live longer. If you are a person of color and you have symptoms that might be of CF, talk with your health care professional, so that you can be tested for CF.

Complications

The complications of cystic fibrosis can affect the respiratory, digestive and reproductive systems, as well as other organs.

Complications in the respiratory system

  • Damaged airways. Cystic fibrosis is one of the major causes of damage in the respiratory tract, long-term lung disease called bronchiectasis. Bronchiectasis results in the enlargement and scarring of the airways. This makes it more difficult to move air in and out of the lungs and to remove the mucus from the airways.
  • Ongoing infections. Thickens the mucus in the lungs and sinuses that makes a place for bacteria and fungus to live and grow. Sinus infections, bronchitis or pneumonia are common and may occur repeatedly. Infections with bacteria that do not respond to antibiotics and are difficult to treat is also common.
  • Growths in the nose. Because the inner lining of the nose is irritated and inflamed, you may develop soft, fleshy growths called polyps nasal.
  • Coughing up blood. Bronchiectasis may occur along the blood vessels in the lungs. The combination of airway damage and infection can lead to coughing up blood. Often this is only a small amount of blood, but rarely can be fatal.
  • Collapse of the lung. Also called a pneumothorax, this condition occurs when air leaks into the space that separates the lung from the chest wall. This causes part or all of a lung to collapse. A collapsed lung is more common in adults with CF. A collapsed lung can also cause sudden chest pain and shortness of breath. People often have a bubbling feeling in the chest.
  • The respiratory failure. Over time, CF can damage the lung tissue so badly that it no longer works. Lung function usually gets worse slowly over time and can be fatal. Respiratory failure is the most common cause of death with CF.
  • Episodes of worsening of symptoms. People with CF may experience times when respiratory symptoms are worse than usual. These are the so-called exacerbations (eg-zas-er-bay-flees). Symptoms may include coughing up more mucus than normal, and difficulty breathing. Low power consumption and weight loss are also common during exacerbations. Exacerbations are treated with antibiotics. Sometimes the treatment can be administered in the home, but a stay in hospital may be necessary.

Complications of the digestive system

  • Poor nutrition. Thick mucus can clog the ducts that carry digestive enzymes from the pancreas to the intestines. Without these enzymes, the body cannot absorb and use of proteins, fats and fat-soluble vitamins and can not get the sufficient amount of nutrients. This might result in a delay in the growth and weight loss. Inflammation of the pancreas, a condition called pancreatitis, it is common.
  • Diabetes. The pancreas produces the insulin that the body needs to use sugar. Cystic fibrosis increases the risk of diabetes. Approximately 20% of adolescents and up to 50% of adults with CF to develop diabetes.
  • Disease of the liver. The tube that carries bile from the liver and gallbladder to the small intestine can become blocked and inflamed. This can lead to problems in the liver, such as jaundice, fatty liver disease and cirrhosis, and sometimes gallstones.
  • Intestinal obstruction. Bowel obstruction can occur in people with CF of all ages. Sometimes, a condition in which a section of the intestine slides into another nearby section of the intestine, as a telescope foldable, can also happen.
  • Distal intestinal obstruction syndrome (DIOS). GOD is the partial or complete blockage where the small intestine meets the large intestine. GOD requires immediate treatment.

The reproductive system of the complications

  • Infertility in men. Almost all males with cystic fibrosis are not fertile. The tube that connects the testicles and the prostate gland, called the vas deferens, is blocked with mucus or missing altogether. Sperm is still made in the testicles, although it might not happen in the semen made by the prostate gland. Certain fertility treatments and surgical procedures, at times, make it possible for men with CF to become biological parents.
  • The reduction of fertility in women. Although women with CF may be less fertile than other women, it is possible for them to conceive and have successful pregnancies. Even so, the pregnancy can worsen the symptoms of CF. Talk with your health care professional about the risks.

Other complications

  • The thinning of the bones. Cystic fibrosis increases the risk of developing a dangerous thinning of the bones called osteoporosis. Joint pain, arthritis and muscle pain can also occur.
  • Out-of-balance of electrolytes and dehydration. CF causes more salt in the sweat, so that the balance of minerals in the blood, which can be annoying. This increases the risk of dehydration, especially with exercise or in hot weather. Symptoms of dehydration include fast heartbeat, extreme drowsiness, weakness, and low blood pressure.
  • Gastroesophageal reflux disease (GERD). Stomach acid flows back up into the tube that connects the mouth and the stomach, called the esophagus. This haven is known as acid reflux, and it can irritate the lining of the esophagus.
  • Mental health conditions. Have an ongoing medical condition that has no cure, can cause fear, depression and anxiety.
  • Increased risk of digestive tract cancer. The risk of cancer of the esophagus, stomach, small and large intestines, the liver, the pancreas, and is higher in people with cystic fibrosis. Regular colorectal cancer screening should begin at age 40.

Prevention

If you or your partner have close relatives with cystic fibrosis, that both may choose to undergo genetic testing before having children. Tests performed in a laboratory on a sample of blood can help determine your risk of having a child with CF.

If you are already pregnant and the genetic test shows that your baby may be at risk of CF, your healthcare provider may do other tests on your unborn child.

Genetic testing is not for everyone. Before you decide to be tested, talk to a genetic counselor about the mental health impact of the results of the test could have.

Diagnosis

To diagnose cystic fibrosis, health professionals usually do a physical exam, review of symptoms and testing.

Newborn screening and diagnosis

Every state in the united states now routinely screen newborns for cystic fibrosis. The early diagnosis means that treatment can begin immediately. Tests may include:

  • Assessment of the newborn. In this test, a health care professional takes a couple of drops of blood from the baby's heel. A lab checks the blood sample for levels higher than expected from a chemical called immunoreactive trypsinogen (IRT). IRT is released by the pancreas and may suggest CF. A newborn IRT levels can also be elevated due to a premature birth or a stressful delivery. For that reason, other tests may be needed to confirm the diagnosis of cystic fibrosis.
  • The sweat test. To verify if a baby has CF, a sweat test is performed once the baby is at least 2 weeks of age. A chemical substance that causes the skin to sweat put you in a small area of the skin. Then, the sweat is collected to test it and see if it is saltier than the typical. Tests performed in a care center that is accredited by the Cystic Fibrosis Foundation helps to ensure that the results can be trusted.
  • The genetic testing. Health professionals can also recommend genetic testing to look for specific changes in the gene responsible for CF. Genetic testing can be used in conjunction with IRT levels to confirm the diagnosis.

Testing of older children and adults

Cystic fibrosis tests may be recommended for older children and adults who were not screened at birth. Your healthcare provider may suggest the genetic and sweat tests of the CF, if you have repeated attacks of inflammation of the pancreas, nasal polyps, chronic sinusitis, lung infections, bronchiectasis, or male infertility.

Treatment

There is No cure for cystic fibrosis, but treatment can relieve symptoms, reduce complications and improve the quality of life. Close monitoring and early, aggressive intervention is recommended to slow the worsening of the CF over time. This can lead to a longer life.

The management of CF is complicated, so it is better to receive treatment in a center with a multidisciplinary team of doctors and other health professionals trained in the CF. You can evaluate and treat your condition.

The goals of treatment are to:

  • The prevention and control of infections that occur in the lungs.
  • Extraction and loosen the mucus in the lungs.
  • The treatment and prevention of intestinal obstruction.
  • Getting enough nutrition.

Medications

The options include:

  • Drugs that target changes in the genes and to improve the form of the CFTR protein works. These are the so-called cystic fibrosis transmembrane conductance regulator (CTFR) modulators.
  • Antibiotics to treat and prevent lung infections.
  • Anti-inflammatory medicines to reduce the inflammation in the airways in the lungs.
  • Mucus-thinning drugs, such as hypertonic saline solution, to help you cough up the mucus. This can improve lung function.
  • Medications inhaled in the lungs, called bronchodilators. These can help keep the airways open by relaxing the muscles that surround the bronchial tubes.
  • Pancreatic enzyme capsules by mouth to help the digestive tract absorb and use the nutrients.
  • Laxatives to prevent constipation or intestinal obstruction.
  • Acid-reducing medications to help the pancreatic enzymes work best.
  • Certain medicines for diabetes or liver disease, when necessary.

Medicines that target genes

For those with cystic fibrosis who have certain changes in the gene, the cystic fibrosis transmembrane conductance regulator (CFTR) modulators can help. About 90% of people with CF may be helped by the use of these medications. Gene testing is needed to find out what specific genes to change, and if a CFTR modulator can work for you.

CFTR modulators are newer drugs that many experts think that they are a major breakthrough in the treatment of CF. The medicines help the CFTR protein work better. This can make the lungs work better, help the digestion and weight, and to reduce the amount of salt in the sweat.

The Food and Drug Administration (FDA) has approved the use of these CFTR modulators for the treatment of CF in people with certain changes in the CFTR gene:

  • The new combination of the medicine with elexacaftor, ivacaftor and tezacaftor (Trikafta) is approved for people 2 years of age and older. Trikafta has proven to be the most effective CFTR modulator.
  • The medicine in combination with ivacaftor and tezacaftor (Symdeko) is approved for use in people 6 years of age and older.
  • The medicine in combination with ivacaftor and lumacaftor (Orkambi) is approved for people who are of the age of 1 year and older.
  • Ivacaftor (Kalydeco) is approved for people who are up to 1 month of age and older.

Your health care professional can do tests of liver function and eye exams before prescribing these medications. While taking these medications, it is likely that need to be checked on a regular basis to monitor for side effects, such as changes in the liver function and the opacity of the eye lens is called a cataract. Ask your healthcare provider or pharmacist for information about possible side effects and what to look for.

Maintain regular follow-up appointments so that the health care professional can monitor you while taking these medications. Tell your healthcare provider about the side effects it has.

Techniques of clearing of the airways

Airway clearance techniques, also known as chest physical therapy, can help get rid of the mucus blocking the airways. It can also help to reduce the infection and inflammation in the airways. Airway clearance techniques to loosen the thick mucus in the lungs, making it easier to cough.

Techniques of clearing of the airway is performed several times a day. Different techniques, and often more than one method, can be used to loosen and remove the mucus.

  • Clapping with cupped hands on the front and back of the chest. This is a common technique.
  • Special breathing and the cough of the activities.
  • Mechanical devices, such as a tube that you blow into, and a machine that pulses of air in the lungs, called a vibrating vest.
  • Vigorous exercise.

Your healthcare provider can give you instructions on the airway clearance techniques that are best for you and how often you should do it.

Pulmonary rehabilitation

Your health care professional may recommend a long-term program that is called pulmonary rehabilitation. The program can improve lung function and general well-being. Pulmonary rehabilitation is usually performed on an outpatient basis and may include:

  • Physical exercise can improve your condition.
  • The breathing techniques that can help loosen the mucus and ease breathing.
  • Dietary advice.
  • Mental health counseling, and support.
  • Education about your condition.

Surgery and other treatments

Options for certain conditions that are caused by the cystic fibrosis are:

  • Nasal and sinus surgery. Surgery can remove nasal polyps in the way of the breath. Sinus surgery may be done to treat repeated or long-term sinusitis.
  • Oxygen therapy. If there is not enough oxygen in your blood, you may need supplemental oxygen. You can get this extra oxygen to the lungs through a mask or through a plastic tube with prongs that fit on your nose. These are attached to an oxygen tank. Lightweight, portable units that you take with you can help you be more mobile. Oxygen therapy may help prevent high blood pressure in the lungs, a disease called pulmonary hypertension.
  • Non-invasive ventilation. Typically used during sleep, non-invasive ventilation is used, a nose, or mouth of the mask to provide positive pressure in the airways and the lungs to breathe. Often used in conjunction with oxygen therapy. Non-invasive ventilation can increase the exchange of air in the lungs and decrease the work of breathing. The treatment can also help with the cleaning of the respiratory tract.
  • Feeding tube. CF interferes with the digestion, so it can't absorb and use the nutrients of the food is very good. A feeding tube provides the extra nutrition. This can be a short-term tube that is placed through your nose and guided to your stomach. Or the tube may be surgically placed into the stomach through a small incision in the skin of his belly. A feeding tube gives you extra calories during the day or night and leave not eat by mouth.
  • Surgery of the intestine. If an obstruction occurs in the intestines, you may need surgery to remove it. If one part of the intestine folds into a nearby section of the intestine, you may need surgery.
  • Lung transplant.If you have severe breathing problems or life-threatening lung complications, or if the antibiotics don't work to treat infections of the lungs, lung transplantation may be an option. Because the bacteria of the line of the airways in case of diseases such as cystic fibrosis, which causes permanent widening of the large airways, both lungs need to be replaced. Cystic fibrosis does not recur in the transplanted lungs. But other complications associated with CF, such as sinus infections, diabetes, the pancreas, the conditions and osteoporosis, can still occur after a lung transplant.
  • Liver transplant. Severe cf-related liver disease, such as cirrhosis, liver transplantation may be an option. In some people, a liver transplant may be done along with the lung, or pancreas transplants.

Lung transplant. If you have severe breathing problems or life-threatening lung complications, or if the antibiotics don't work to treat infections of the lungs, lung transplantation may be an option. Because the bacteria of the line of the airways in case of diseases such as cystic fibrosis, which causes permanent widening of the large airways, both lungs need to be replaced.

Cystic fibrosis does not recur in the transplanted lungs. But other complications associated with CF, such as sinus infections, diabetes, the pancreas, the conditions and osteoporosis, can still occur after a lung transplant.

Lifestyle and home remedies

Here are some ways that you can manage cystic fibrosis and reduce complications.

Pay attention to nutrition and fluid intake

Cystic fibrosis can cause poor nutrition due to the enzymes necessary for the digestion can't reach the small intestine. This prevents the food is taken in and used by the body. People with CF may need a much larger number of calories per day than people without the condition.

A healthy diet is important for growth and development and to support the proper functioning of the lungs. It is also important to drink plenty of fluids to help thin the mucus from the lungs. You can work with a dietitian to create a nutrition plan.

Your health care professional may recommend:

  • Pancreatic enzyme capsules with each meal and snack.
  • Medications used to decrease acid in the stomach and help the pancreatic enzymes work.
  • High-calorie nutritional supplements.
  • Especially the fat-soluble vitamins.
  • Extra fiber to prevent intestinal obstruction.
  • The excess of salt, especially during hot weather or before exercise.
  • Drink enough water, especially during warm weather.

Keep vaccinations up to date

In addition to the other common childhood vaccines, the annual flu vaccine is important if you have cystic fibrosis. So are the other shots of their health care professionals recommend, such as the vaccine to prevent pneumonia and COVID-19. CF does not affect the immune system, but people with CF are more likely to develop complications when they get sick.

Exercise

Regular exercise helps to loosen mucus in the airways and makes your heart stronger. Because people with cystic fibrosis are living longer, it is important to keep the heart and blood vessels in good condition for a healthier life. Anything that is put in movement, including walking and bicycling, can help.

Stay away from smoke

Do not smoke and do not allow others to smoke around you or your child. Tobacco smoke and air pollution are harmful to everyone, but especially if you have cystic fibrosis. The use of e-cigarettes, also called vaping, can worsen CF too.

Wash your hands

Teach all members of your family to wash their hands thoroughly before eating, after using the restroom, coming home from work or school, and after being around a sick person. If possible, stay away from people who have colds or the flu. Hand washing is the best way to protect against the infection.

Keep your medical appointments

Along with the ongoing care of your medical team:

  • Keep your regular appointments for follow-up.
  • Take your medicines as prescribed and follow the therapies according to the instructions.
  • Talk with your health care professional about how to manage symptoms.
  • Learn the warning signs of serious complications.

Coping and support

If you or someone you love has cystic fibrosis, you may have strong emotions, such as depression, anxiety, anger, or fear. These feelings can be especially common in adolescents. These tips can help.

  • Find support. Talk openly about how you feel can help. It can also help to talk with others who have the same condition. That could mean joining a support group for yourself, or find a support group for parents of children with cystic fibrosis. Older children with CF can join a group of CF to meet and talk with other people who have the condition.
  • Get professional help. If you or your child is depressed or anxious, can help to meet with a mental health professional. You can talk about the feelings and ways of coping. The mental health professional may suggest medications or other treatments also.
  • Spend time with friends and family. Having their support can help you manage stress and reduce anxiety. Ask friends or family for help when you need it.
  • Take the time to learn about cystic fibrosis. If your child has cystic fibrosis, encourage your child to learn about CF. Discover how medical care is managed for CF children as they grow up and reach adulthood. Talk with your health care professional if you have any questions about the care.

Preparing for your appointment

Make an appointment with your health care professional if you or your child have symptoms of cystic fibrosis. After the evaluation, you may be referred to a specialist trained in the diagnosis and treatment of CF.

Here's some information to help you prepare for your appointment, as well as what to expect from your health care professional.

What you can do

You might want to take a friend or family member with you to the appointment to help you remember information.

Before your appointment, make a list of:

  • The symptoms and when they started. Include anything that makes the symptoms worse or better.
  • All the drugs, vitamins, herbs and supplements that you or your child take. Include the dose.
  • The history of the family, as if someone in your family has cystic fibrosis.
  • The treatment of you or your child have had for the CF, if any. Include what the treatment was and if it helped.
  • Any other medical conditions and their treatments.
  • Questions to ask your health care professional.

Questions may include:

  • What is likely the cause of these symptoms?
  • What kind of proof do you need?
  • What treatment do you recommend it?
  • I or my child have other health conditions. How will the cystic fibrosis affects them?
  • Is there a limit needed?

Feel free to ask questions during your appointment.

What to expect from your doctor

After obtaining detailed information about the symptoms and the medical history of your family, your healthcare provider may order tests to help with diagnosis and treatment plan.

Your health care professional may also ask questions, such as:

  • What symptoms are you or your child have?
  • When did the symptoms begin?
  • Is there something that the symptoms better or worse?
  • Has anyone in your family had cystic fibrosis?
  • Has growth has been on average and the weight is stable?
Symptoms and treatment of Cystic fibrosis