Cystic Fibrosis Lung

Cystic fibrosis is a genetic disease that causes thick, sticky mucus to build up in the lungs and other organs, leading to breathing difficulties and frequent infections that require lifelong management and care.

Table of contents

• What is Cystic Fibrosis
• What Causes This Disease
• Types of Cystic Fibrosis
• Signs and Symptoms
• Organs Affected by the Disease
• How the Disease is Diagnosed
• Treatment Options
• Living with Cystic Fibrosis
• Life Expectancy and Outlook

What is Cystic Fibrosis

Cystic fibrosis is a genetic disease that causes sticky, thick mucus to build up in your body^[1]. This mucus can damage your lungs, pancreas and other organs^[3]. The disease affects cells that produce mucus, sweat and digestive juices. While these fluids are normally thin and slippery, in people with cystic fibrosis they become thick and sticky^[1].

Many people think of cystic fibrosis as a lung disease because it affects your lungs and airways, which can make it hard to breathe and cause frequent infections^[3]. However, it’s called cystic fibrosis because it also causes cysts and scarring (called fibrosis) in your pancreas^[3]. Normal mucus is slippery and protects the airways, digestive tract, and other organs and tissues, but cystic fibrosis causes mucus to become thick and sticky^[4].

Cystic fibrosis occurs in about 1 in every 3,400 births in the United States^[13]. Boys and girls get cystic fibrosis equally. Nearly 40,000 children and adults in the United States — and more than 100,000 worldwide — are now living with cystic fibrosis^[4].

• Lungs
• Pancreas
• Liver
• Sinuses
• Intestines
• Sex organs

What Causes This Disease

Changes to the CFTR gene — called variants or mutations — cause cystic fibrosis^[3]. CFTR makes a protein that works as an ion channel on the surface of a cell. Ion channels are like gates in a cell’s membrane that allow certain molecules to pass through^[3].

CFTR usually makes a gate for chloride ions, a type of mineral with a negative electrical charge. Chloride moves out of the cell, taking water with it, which thins out mucus and makes it more slippery^[3]. In people with cystic fibrosis, gene mutations in CFTR prevent this from happening, so the mucus stays sticky and thick.

There are different categories (classes I to VI) of gene mutation in CFTR that depend on the effect they have. Some produce no proteins at all, some produce only small amounts of proteins, and some produce proteins that don’t work properly^[3].

Cystic fibrosis is an inherited disease. A child needs to inherit one copy of the mutated gene from each parent to develop cystic fibrosis^[1]. If they only inherit one copy from one parent, they won’t develop it. However, they will be a carrier of that gene. People with cystic fibrosis are born with it. It’s a lifelong illness that gets more severe over time^[3].

Types of Cystic Fibrosis

There are two types of cystic fibrosis^[3]:

• Classic cystic fibrosis often affects multiple organs. It’s usually diagnosed in the first few years of your life.
• Atypical cystic fibrosis is a milder form of the disease. It may only affect one organ or symptoms may come and go. It’s usually diagnosed in older children or adults.

Signs and Symptoms

Cystic fibrosis symptoms include^[3]:

• Frequent lung infections (recurrent pneumonia or bronchitis)
• Loose or oily poop (stool)
• Trouble breathing
• Frequent wheezing
• Frequent sinus infections
• A nagging cough
• Slow growth
• Failure to thrive (inability to gain weight despite having a good appetite and taking in enough calories)

People with atypical cystic fibrosis may have some of the same symptoms as those with classic cystic fibrosis. Over time, you also might experience^[3]:

• Chronic sinusitis
• Nasal polyps
• Dehydration or heatstroke from abnormal electrolyte levels
• Diarrhea
• Pancreatitis
• Unintended weight loss

Typical features of acute cystic fibrosis include fever, cough, difficulty in breathing, fast respiration, flaring of the nostrils, poor appetite, and reduced activity^[13].

Organs Affected by the Disease

Cystic fibrosis affects many body parts and systems. The most serious and common effects are from mucus buildup in the lungs and airways^[14].

As mucus builds up, it can cause blockages, damage, or infections in affected organs^[4]. Instead of acting as lubricants, these secretions plug up the tubes, ducts and airways in your body^[1].

Mucus can build up and block the pancreas, causing inflammation (called pancreatitis). The pancreas makes digestive enzymes that help break down food as well as the hormone insulin^[14]. This damage, plus the thick mucus, can block ducts that release digestive enzymes, making it hard to get nutrients from your digestive tract^[3].

Damage to the pancreas from cystic fibrosis can cause^[14]:

• Malnutrition, including low levels of vitamins and minerals
• Diabetes, a common complication called cystic fibrosis-related diabetes

Since cystic fibrosis affects the glands that secrete sweat, patients may also suffer from salt depletion while sweating during hot weather^[13]. Cystic fibrosis can also affect your liver, sinuses, intestines and sex organs^[3].

How the Disease is Diagnosed

Cystic fibrosis is typically diagnosed in newborns through screening blood tests and genetic testing for mutations in the CFTR genes^[3]. A sweat test, which measures the amount of salt in perspiration, is another tool for diagnosing cystic fibrosis^[3]. If that sweat test is positive, it should be confirmed with a second test.

Most babies who have a positive screening actually don’t have cystic fibrosis. The newborn screen looks at a substance in the blood that is elevated in cystic fibrosis, but it can be elevated in other conditions as well, even premature birth^[8]. Some states also test for a gene mutation, but even if this comes back positive, it doesn’t mean your baby has the disease. People with only one mutation are called carriers^[8].

Treatment Options

Although there is not yet a cure for cystic fibrosis, advances in treatment are helping many people live longer, healthier lives^[7]. Although there is no cure for cystic fibrosis, people with this condition are generally able to live normal lives^[1].

Treatment for cystic fibrosis focuses on medicines and other ways to clear the airway. Other medicines can improve the function of the faulty CFTR protein and help prevent complications^[7]. Sometimes breathing support, nutritional support, or surgery is needed.

To manage the disease, you will work with a team of healthcare providers, including cystic fibrosis specialists. Your cystic fibrosis care team may also include doctors specializing in the lungs, diabetes, and the digestive system; respiratory therapists; genetic counselors; fertility and reproductive health specialists; physical therapists; nurses; nutritionists and dietitians; pharmacists; psychologists; social workers; and transplant doctors and nurses^[7].

The primary goals of cystic fibrosis treatment include maintaining lung function as near to normal as possible by controlling respiratory tract infection and clearing airways of mucus; administering nutritional therapy (enzyme supplements, multivitamin and mineral supplements) to maintain adequate growth; and managing complications^[12].

Airway Clearance

Airway clearance techniques help loosen lung mucus so it can be coughed out. Removing mucus improves breathing and lowers the risk of infection^[7]. This is often treated with antibiotics, as well as through special exercises for draining mucus, including physical therapy for the chest, physical exercise, and aerosols^[13].

Medications

Medications used to treat patients with cystic fibrosis may include^[12]:

• Pancreatic enzyme supplements
• Multivitamins (including fat-soluble vitamins)
• Mucolytics
• Nebulized, inhaled, oral, or intravenous antibiotics
• Bronchodilators
• Anti-inflammatory agents
• Agents to treat associated conditions or complications (such as insulin, bisphosphonates)
• Agents devised to potentially reverse the abnormalities in chloride transport

An inhaled medication, Dornase alfa (brand name Pulmozyme) contains an enzyme that breaks down DNA in the mucus, thereby liquefying secretions and making them easier to clear^[13].

Mild acute pulmonary exacerbations of cystic fibrosis can be treated successfully at home with the following measures: increasing the frequency of airway clearance; inhaled bronchodilator treatment (especially if bronchial hyperresponsiveness is present); chest physical therapy and postural drainage; increasing the dose of the mucolytic agent dornase alfa; and use of oral antibiotics (such as oral fluoroquinolones)^[12].

Lung Transplant

Although current medical management strategies can control the disease into adulthood, lung transplantation offers extended survival to those with advancing pulmonary disease^[13]. Lung transplant is recommended in severe cases among those who are eligible^[13].

Living with Cystic Fibrosis

Most people who have been diagnosed with cystic fibrosis are living well into adulthood. Many attend college or pursue other education, get jobs, and have families^[14].

Your quality of life and survival depend on understanding how cystic fibrosis affects health and taking steps to avoid complications. Follow your treatment plan and see your healthcare provider regularly. Avoiding infections and finding emotional support are also important^[14].

Daily Care and Management

Living with a chronic illness like cystic fibrosis can be very challenging. A healthy lifestyle is important for everyone^[20]. Steps you can take to protect your health and live well with cystic fibrosis include:

• Exercise regularly as directed by your health care provider. This helps you breathe easier by improving your muscle strength and tone and helps improve clearing the mucus from the airways^[20].
• Eat a well-balanced healthy diet and drink plenty of fluids^[20].
• Get a flu shot every year in the fall. Get the pneumococcal vaccines as recommended by your health care provider^[20].
• Give up smoking and avoid exposure to passive smoke^[20].

Nutrition

Nutrition plays a significant role in managing cystic fibrosis. Due to malabsorption issues, many adults with cystic fibrosis struggle to maintain a healthy weight^[15]. People with cystic fibrosis need more calories. In fact, people with cystic fibrosis generally need up to twice the amount of daily calories^[19]. A high-calorie, high-fat diet, often paired with pancreatic enzyme supplements, ensures the body gets the necessary nutrients^[15].

Diet therapy, which emphasizes the replacement of deficient digestive enzymes, is critically important^[13]. Cystic fibrosis makes it hard for your body to absorb certain vitamins, such as A, D, E, and K, which need fat in order to be absorbed by your body^[19].

Exercise

Exercise is an important part of managing cystic fibrosis, as it helps keep the lungs clear of mucus, improves cardiovascular health, and boosts energy levels^[15]. Being active may also help manage your cystic fibrosis^[19]. It is important to discuss your exercise plans with your doctor and cystic fibrosis care team.

Medication Management

Managing medications is a crucial aspect of living with cystic fibrosis. As an adult with cystic fibrosis, you may be prescribed antibiotics to prevent infections, mucus-thinning medications, inhaled therapies, and digestive enzymes^[15]. It is important to take these as directed, as missed doses can lead to complications.

Having this mind-set makes a huge difference. The daily burden of multiple medicines is harsh, but adhering to your treatment even when no one is watching is essential^[18]. Only your cystic fibrosis care team can give you advice about your disease and treatment^[19].

Monitoring and Follow-up

Frequent visits to your cystic fibrosis care team are essential. Regular monitoring helps catch potential problems early and adjust treatments to your changing needs^[15]. At the time of initial confirmation of the diagnosis, the patient should undergo baseline assessment, investigations, and initiation of therapy. Follow-up outpatient visits are scheduled at 2-3 monthly intervals^[12].

As a result of the complex and multisystemic involvement of cystic fibrosis and the need for care by specialists, treatment and follow-up care at specialty centers with multidisciplinary care teams (cystic fibrosis centers) is recommended^[12].

Life Expectancy and Outlook

Cystic fibrosis used to cause death in childhood. Survival has improved because of advances in newborn screening, medicines, nutrition, and lung transplants^[4]. At present, the predicted median age for survival for a person with cystic fibrosis is 37 years old. However, that age is rising as an increasing number of people are only mildly affected and survive longer^[13].

Children born between 2019 and 2023 who have cystic fibrosis are expected to live an average of 61 years. On average, half of babies born in 2023 with cystic fibrosis are expected to reach the age of 68 or older^[4].

There are many tools and techniques doctors use to help manage this complicated condition and with improvement in screening and treatments, life expectancy for those with cystic fibrosis is better than ever before^[1].

Some people who have cystic fibrosis have few or no symptoms, while others experience severe symptoms or life-threatening complications. The most serious and common complications of cystic fibrosis are problems with the lungs, typically caused by serious lung infections^[4]. Sometimes lung problems will suddenly worsen; this is called a flare-up or exacerbation.