What is (CF) cystic fibrosis?

Cystic fibrosis (CF) is a genetic disease that affects the lungs, digestive system, and other organs.

What is cystic fibrosis?   

• Symptoms   
• Treatment  
• Causes   
• Risk factors  
• Diagnosis   
• Prevention  
• Outlook  

When to contact a doctor?  

Cystic fibrosis (CF) is a genetic disease that affects the lungs, digestive system, and other organs. It develops when the protein that produces mucus does not function as usual. This results in thick, sticky mucus that can damage or obstruct organs.

There is currently no cure Trusted Source, but treatments can help manage the condition, relieve the  symptoms,  and reduce the risk of complications. This improves a person’s life expectancy and quality of life.

This article explores the causes and symptoms of CF. It also looks at the treatments, risk factors, outlook, and how doctors diagnose the condition. 

What is CF?

CF is a genetic disease that mainly affects Trusted Source the lungs and digestive system. It can also cause complications, such as liver disease and diabetes.

People with CF have a genetic mutation Trusted Source in a gene called the cystic fibrosis transmembrane conductance regulator (CFTR). This gene controls the CFTR protein.

The protein is present in every organ Trusted Source that creates mucus. It is also present in other organs and tissues, including those in the:   

• lungs 
• pancreas 
• intestines 
• liver 
• heart 
• immune system 
• sweat glands  

This can cause digestive problems that may lead to limited growth and malnutrition.   

CF is a chronic condition with potentially life threatening complications. It can block the airways, causing breathing difficulties and severe lung infections. 

The genetic mutation may also interfere with pancreatic function by preventing enzymes from breaking down food effectively. This malfunctioning causes the body to produce mucus that is thicker and stickier than usual. The genetic mutation mean that the CFTR protein does not function as it would in a healthy body. However, treatments can improve the quality and duration of life.  

Symptoms    

CF most commonly Trusted Source affects the lungs, causing respiratory symptoms, such as:

• wheezing 
• shortness of breath 
• persistent coughing, which may bring up blood or mucus 
• other breathing difficulties 

Also, in people with CF, the mucus that obstructs lung function creates optimal living conditions for pathogens. As a result, a person has an increased risk of lung infections, such as bronchitis and pneumonia. 

CF  symptoms can vary from person to person, depending on the affected organs. Some other possible symptoms and complications are:

• frequent sinus infections 
• gastrointestinal issues, such as:
• abdominal pain 
• constipation 
• diarrhea 
• greasy, foul-smelling stool 
• nasal polyps, which are small, fleshy growths inside the nose 
• salty skin and sweat 
• night sweats 
• fever 
• jaundice 
• joint and muscle pain 
• low body weight 
• limited growth or weight gain in children 
• delayed puberty 
• male infertility  
• clubbed fingers and toes, due to a lack of oxygen to the extremities   

The obstruction of the pancreas that can lead to malnutrition and limited growth is also linked to an increased risk Trusted  Source of diabetes and osteoporosis.   

Treatment 

Treatments can help manage  symptoms and improve the quality of life. The best combination of approaches depends on a person’s symptoms. Below, we describe some treatment options. 

Airway clearance 

It is crucial to loosen and clear mucus from the lungs to ease breathing and minimize the risk of infections. Airway clearance techniques can help. 

As a 2019 reviewTrusted Source pointed out, people with CF may use these techniques daily. The review did not find any particular method more effective than another. 

Some airway clearance techniques that a person might try include:

Postural drainage: This involves getting into certain positions so that gravity helps move mucus into the center of the airways, where it can be dislodged more easily. 

Percussion: Clapping cupped hands against the chest can help loosen mucus. 

Vibration: This involves exhaling while a therapist uses their hands to make light, repetitive movements against the chest. This vibrations help loosen the mucus. 

Breathing techniques: Specific breathing exercises can help loosen and dislodge mucus. 

Positive expiratory pressure: This involves using a device that supports airflow and helps move mucus out of the airways. 

Medications 

Certain medications can help alleviate CF  symptoms and otherwise manage the condition. Examples include:  

Bronchodilators: These drugs help relax the muscles around the lungs, giving the airways more room to expand. Some also help clear mucus from the lungs. 

Hypertonic saline: Sterilized salt water can help clear mucus and improve lung function in people over 6 years of age. 

Ibuprofen: High doses may help slow down the decline of lung function. 

Dornase alfa: People with CF can inhale this drug to support mucus clearance. 

Antibiotics: People with CF may take antibiotics, orally or with an IV, to treat bacterial lung infections. Doctors do not usually Trusted Source recommend inhaled antibiotics to treat CF exacerbations due to bacterial infections. 

Infection management 

If an infection is bacterial, antibiotics can help treat it. Also, a person may be able to reduce their risk Trusted Source by: 

• closely following their treatment plan 
• getting any vaccinations that a doctor recommends,  such as a yearly flu shot and a pneumococcal vaccine 
• washing their hands regularly with soap and water,  especially in the following situations:   
• before eating    
• before taking medications or using any breathing equipment 
• after using the restroom 
• Other treatment methods 

Below are some other ways of managing CF:   

Vascular access devices  

Having one can make managing CF more efficient and less intrusive. 

The device may consist of a long, thin tube inserted into a vein in the arm and secured to the skin with stitches or adhesive. The port connects to an IV tube when a person needs IV medication. 

These implanted devices deliver medication directly into the bloodstream, and they may be suitable for people who require long-term access to IV treatment. Another option is a port, a device that a surgeon implants under the skin.  

CFTCR modulators 

These drugs work to correctTrusted Source the function of the CFTR protein. 

The supplements can help with: 

maintaining a healthy weight 

preventing malnutrition and vitamin deficiencies 

improving bowel movements. A registered dietitian may recommend: 

Having a high fat diet: As 2021 researchTrusted Source has found, having a high fat diet and taking fat-soluble vitamin supplements may help counteract nutrient malabsorption. 

Increasing the calorie intake: This can help prevent unwanted weight loss. The authors of the 2021 research report that female adults may need to consume 2,500–3,000 calories per day and male adults may need 3,000–3,700 calories per day. 

Increasing the salt intake: People with CF may need to take in more salt to counteract sweating regularly due to exercise or living in a hot climate. 

Taking pancreatic enzyme supplements: Around 80–90% of people with CF may need pancreatic enzyme supplements. Two approved CFTR modulators are ivacaftor (Kalydeco) and lumacaftor/ivacaftor (Orkambi). This is because CF can prevent the pancreas from making the enzymes necessary to break down food. Kalydeco may be suitable for children 6 years and older who have an additional eight CF gene mutations. Orkambi may be suitable for those between 6 and 11 years old with a F508del genetic mutation.  

Causes

For a person to develop CF, both biological parents must carry the malfunctioning gene. In someone with CF, this gene does not function as usual, leading to low levels of salt and water outside the cells. The result is unusually thick, sticky mucus. 

If a person has only one copy of the malfunctioning gene, they do not develop CF but they “carry” it. The CFTR gene contains codes for producing a protein that controls the flow of salt and water across cell membranes.  

According to the National Organization for Rare Disorders, if two carriers have a child, there is a: 

25% chance with each pregnancy that the child will have CF 

50% chance with each pregnancy that the child will be a carrier but will not have it 

25% chance that the child will not be a carrier and will not have CF 

Over 10 million peopleTrusted Source in the United States are likely to be carriers of CF, and many are unaware. 

Risk factors

Risk factorsTrusted Source for CF include:

Genetic factors: People are more likely to have CF if one or both biological parents is a carrier or has the condition. The risk also increases if people have a sibling, half-sibling, or cousin with CF.

Race and ethnicity: CF most commonly affects people of Northern European heritage. It is less common among people who are:

• Hispanic
• African American
• Asian American

CF test and diagnosis

More than 1,000 people in the U.S. The screening involves taking a small blood sampleTrusted Source from the heel and sending it off to a laboratory for analysis. 

People can undergo screening to check if they carry the CF genetic mutation. There are over 1,700 mutations of the CFTR gene, however. A healthcare professional takes a blood, saliva, or cheek cell sample for DNA testing. Some  symptoms of CF may appear shortly after birth. Undergo screening for CF. Prenatal screening involves taking a sample of the amniotic fluid to check for the genetic mutation in the fetus. 

The standard genetic test for CF checks for the 23 most common Trusted Source gene mutations. People may have this screening before or during Trusted Source pregnancy.  Receive a CF diagnosis each year, with 75% receiving a diagnosis by the age of 2 years. 

All newborns Trusted Source in the U.S. But the  symptoms of mild cases may not present until adulthood. If an infant has it, beginning treatment right away can help delay or prevent complications.  

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Prevention 

There is no wayTrusted Source to prevent CF. If people are planning to have a child and are CF carriers, they may discuss this with a genetic counselor and consider their options. 

Outlook 

The Cystic Fibrosis Foundation reports that life expectancy and quality of life continue to improve for people with the condition. 

Life expectancy varies from one person to the next and can depend on the severity of the disease. Research from 2021Trusted Source estimates that people with CF may reach their 40s before requiring a lung transplant. The median survival rate after lung transplantation is 8.5 years.

Receiving treatment as soon as possible can helpTrusted Source extend life, improve the quality of life, and prevent complications. 

When to contact a doctor?  

Consult a doctor about any symptoms of CF. 

People with CF should let a member of their healthcare team know about any significant changes in their symptoms. 

Some people may chooseTrusted Source to undergo screening for the genetic mutation. These tend to be:

• people with a family history of CF  
• siblings, half-siblings, and first cousins of someone with CF  
• people planning to become pregnant  

Summary 

CF is a genetic disorder linked to a mutation in the CFTR gene. This creates irregular proteins that cause mucus to become unusually thick and sticky.  

CF primarily affects the lungs, though it can also affect the digestive system and other parts of the body.  

Although there is no cure, treatments can help clear the mucus from the airways, aid digestion, and reduce the risk of complications. Continual advances in treatment improve life expectancy and the quality of life for people with CF. It is crucial to receive appropriate treatment as soon as possible.  

What to know about obstructive lung disease?

Obstructive lung disease is a type of lung disease that occurs due to blockages or obstructions in the airways.

Blockages damage the lungs and cause their airways to narrow. This damage leads to difficulty breathing.

In this article, we look at the causes, symptoms, diagnosis, and treatment of several types of obstructive lung disease.

What is obstructive lung disease? 

When a person with healthy lungs breathes, gas exchange occurs in air sacs called alveoli.
When a person breathes, air travels down the windpipe through a series of tubes called bronchi, which gradually get smaller. At the same time, the blood passes carbon dioxide back to the alveoli for exhalation. 

In obstructive lung disease, less air flows in and out of the alveoli and fewer gas exchanges can happen. This can happen for many reasons, depending on which type of obstructive lung disease a person has. At the end of these tubes are bunches of air sacs called alveoli. 

In healthy lungs, the alveoli fill up with air and pass oxygen through to the blood vessels that run along them.   

Types of obstructive lung disease include:

• chronic obstructive pulmonary disease (COPD)
• emphysema
• asthma
• cystic fibrosis

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Obstructive vs. restrictive lung disease

While many of the symptoms of obstructive lung disease and restrictive lung disease are similar, the causes of the symptoms differ. 

When a person has obstructive lung disease, something prevents air from flowing as freely in and out of the airways. 

• Common factors that obstruct airflow include:  
• swelling and inflammation in the airways  
• thick mucus in the airways  
• damage to the walls of the air sacs  

In restrictive lung diseases, a person cannot fully fill their lungs because the lungs are restricted. Conditions that cause stiffness in the lungs or the muscles around the lungs cause restrictive lung disease.  

Conditions that cause restrictive lung disease include:

• obesity 
• scoliosis 
• muscular dystrophy 
• interstitial lung disease 
• sarcoidosis 
• neuromuscular disease, such as amyotrophic lateral sclerosis 
• pulmonary fibrosis 
• asbestosis 
• silicosis 

Symptoms 

Symptoms of obstructive lung disease include shortness of breath, low energy, and tightness in the chest. 

Shortness of breath is the main symptom of obstructive lung disease. At first, this may only occur with physical activity. However, as the disease progresses, it can occur at any time, including when a person is resting. 

Other symptoms of obstructive lung disease include:

• wheezing 
• tightness in the chest 
• a chronic cough that may produce mucus 
• a feeling of mucus in the back of the throat, especially first thing in the morning 
• a loss of energy 
• weight loss 
• a blue tint to the lips or nail beds 
• repeated respiratory infections 
• swelling in the legs and feet 

Symptoms and their severity will vary from person to person depending on how much the disease has advanced. They may also vary based on the specific condition that is responsible for the obstructive lung disease. 

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Causes and risk factors 

According to the National Heart, Lung, and Blood Institute, the main risk factorTrusted Source for obstructive lung disease is smoking. Up to 75 percent of people who have COPD either smoke or used to smoke. 

Exposure to other lung irritants through the environment can also cause obstructive lung disease. 

• Some other lung irritants include: 
• chemicals 
• dust 
• fumes 
• excessive exposure to secondhand smoke  

There is also a genetic component to obstructive lung diseases. People can develop all types of obstructive lung disease without ever having smoked or having had significant exposure to environmental irritants. 

 In some cases, scientists have firmly established the role of genetics in developing obstructive lung disease.  

For example, some people have an alpha-1 antitrypsin deficiency. This deficiency is a common genetic risk factor for emphysema.  

Cystic fibrosis also has a genetic basis. The biological parents of a person with cystic fibrosis both carry a mutation in a gene called CFTR.  

Diagnosis 

A doctor will usually perform a pulmonary function test to help diagnose obstructive lung disease.  

During this test, a person forcibly breathes air through a mouthpiece using several techniques. During each blowing technique, a machine records information on the volume of the air release and how much air moves through the lungs.  

The doctor will also ask the person questions about their symptoms and overall health. This will include information on a person’s medical history and their exposure to environmental irritants, such as smoke and pollution. 

Diagnosis often involves physical exams and some imaging tests, such as a CT scan or an X-ray of the chest.

In some cases, a doctor may look at the lungs with a thin, flexible lighted camera called a bronchoscope. They will use this to check for damage and obstructions.

Treatment and remedies 

The aim of treatment for obstructive lung disease is to open the airways. 

Treatment for obstructive lung disease typically involves opening the airways. 

Obstructive lung disease causes bronchospasms, which are spasms of the smooth muscles in the walls of the airways. 

There are several medications available to treat these spasms that fall under the category of bronchodilators. 

Examples of bronchodilators include:

• combined medications, such as Combivent Respimat 
• formoterol (Foradil), which people use in combination with an inhaled corticosteroid 
• tiotropium (Spiriva) 
• albuterol (Proventil HFA, Ventolin HFA, AccuNeb, ProAir HFA) 
• salmeterol (Serevent), which people use in combination with an inhaled corticosteroid  
• ipratropium (Atrovent)    

Since obstructive lung disease can also cause inflammation, there are medications that a doctor may prescribe to help treat the inflammation. Some examples include:

•  Singulair (montelukast) 
• Qvar (inhaled corticosteroid) 
• Prednisone (oral corticosteroids) 
• Flovent (inhaled corticosteroid) 
• Advair (combination inhaled corticosteroid and long-acting bronchodilator) 

In some severe cases, a person may require a lung  transplant. Other people may need oxygen therapy. 

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Prevention 

Preventing obstructive lung disease is similar to preventing other lung infections. There are some precautionary steps that a person can take, including: 

• quitting smoking 
• avoiding secondhand smoke 
• exercising regularly 
• taking precautions around chemicals and fumes 

Outlook

The outlook for a person with obstructive lung disease varies based on what kind of obstructive lung disease they have and, for some types of obstructive lung disease, how severe it is.  

A study paper that appeared in the International Journal of Chronic Obstructive Pulmonary DiseaseTrusted Source suggests that the more advanced a person’s COPD is, the lower their life expectancy may be.  

A person with cystic fibrosis also has a reduced life expectancy, but this has increased with modern medicine. 

For a person with an obstructive lung disease to live as long and healthily as possible, it is crucial that they follow their doctor’s care plan and follow a healthful lifestyle.