What is Cystic Fibrosis? Let's understand this simply!

You've probably heard that some people are born with a genetic disease, right? Cystic Fibrosis (CF) is a genetic disease. Many people think that this is a disease that only affects the lungs, because breathing difficulties and frequent lung infections are common with this disease. But the story is actually a little more complicated than that. Let's take a look at what it is.

What exactly is cystic fibrosis (CF)?

Simply put, cystic fibrosis (CF) is a genetic condition that causes large amounts of thick, sticky mucus to build up inside certain organs in our bodies. This thick mucus can damage those organs and impair their function.

Normally, the mucus in our lungs and nose is a bit runny and thin. It keeps those areas moist and traps dirt and debris. But in people with CF, a genetic mutation changes the way this mucus is produced. A protein responsible for this is either missing or doesn't work properly. As a result, the mucus-thinning salts get trapped inside the cells, making the mucus very thick and sticky.

Although many people think of it as a lung disease, CF gets its name because it causes cysts and scarring (fibrosis) in the pancreas. This damage, along with the thickening of the lining, can block the ducts that release digestive enzymes that help digest the food we eat. This can prevent the body from absorbing nutrients from food properly. In addition to the lungs and pancreas, it can also affect the liver, sinuses, intestines, and sex organs.

CF is a genetic condition that a person is born with. This means that it is a lifelong condition that can get worse over time. People with CF may have a shorter lifespan than people without CF.

Are there main types of cystic fibrosis (CF)?

Yes, two main types of `CF` can be identified:

1. Classic cystic fibrosis: This usually affects multiple organs in the body. The condition is often diagnosed within the first few years of life.

2. Atypical cystic fibrosis: This is a less severe, milder form of CF. It may affect only one organ, or symptoms may come and go. It is usually diagnosed in older children or young adults.

What are the symptoms of cystic fibrosis (CF)?

A person with CF may experience symptoms like:

• Frequent lung infections (e.g., recurring pneumonia or bronchitis) . Imagine, some young children have a constant runny nose, cough, and chest tightness, and they keep getting them again and again, even with medication. That's how it is.
• Passing loose or oily stools.
• Difficulty breathing.
• Wheezing is a frequent, rattling sound coming from the chest.
• Frequent sinus infections.
• Persistent cough.
• Growth is slow.
• Failure to thrive, even though you eat well and get the calories your body needs, is a condition where you don't gain weight or become thin.

Symptoms of atypical cystic fibrosis (Atypical CF)

People with atypical CF may also have some of the symptoms mentioned above. Over time, they may also experience things like:

• Chronic sinusitis.
• Nasal polyps.
• Abnormal electrolyte levels in the body can lead to dehydration or heatstroke.
• Diarrhea.
• Pancreatitis.
• Unintentional weight loss.

What causes cystic fibrosis (CF)?

The main cause of CF is a mutation (variant or mutation) in a gene called CFTR. The CFTR gene makes a protein that acts as an ion channel on the surface of cells. Think of it like a small gate in the cell membrane. These gates allow certain particles to pass through.

The protein produced by the `CFTR` gene normally acts as a gate for chloride ions (a type of salt with a negative electrical charge). When chloride ions leave the cell, water is also drawn in. This is when mucus becomes thin and slippery. But in people with `CF`, this process doesn't happen properly due to mutations in the `CFTR` gene. The chloride ions then get trapped inside the cells, leaving the mucus thick and sticky.

There are different types of CFTR gene mutations (classes I to VI). Some mutations do not produce any protein, some produce only a small amount of protein, and some do not produce the protein they do.

Is cystic fibrosis (CF) a congenital condition?

Yes, `CF` is a genetic condition that is inherited from birth. A person with `CF` inherits two copies of this mutated `CFTR` gene – one from the mother, and one from the father (this is called `autosomal recessive` inheritance).

Your parents don't have to have CF for you to have CF. In fact, most families don't have a family history of CF. A person who has only one copy of the mutated gene is called a carrier . Carriers don't show symptoms of CF.

Can adults also develop cystic fibrosis (CF)?

No, you are born with the gene mutation that causes CF. However, if the symptoms are very mild, or if they come and go, some people may not be diagnosed until later in life, perhaps even into adulthood.

What are the possible complications of CF?

CF can cause complications such as:

• Infections: Thick mucus traps bacteria in your lungs and airways, making it difficult for them to get out. This can lead to frequent infections.
• Congenital bilateral absence of the vas deferens (CBAVD): In this condition, men do not have the vas deferens, the tube that carries sperm. Therefore, they need help with fertility treatments if they want to have children.
• Diabetes: Cystic fibrosis-related diabetes can occur due to damage to the pancreas.
• Malnutrition: The lack of thick mucus in the digestive system and pancreatic enzymes that help digest food increases the risk of malnutrition.
• Osteopenia and Osteoporosis: Bone-weakening diseases can develop due to the inability to properly absorb nutrients from the digestive system.
• Pregnancy complications: CF can affect the digestive system and cause malnutrition. This increases the risk of pregnancy complications. Preterm birth is the most common complication.

How is cystic fibrosis (CF) diagnosed?

Doctors usually screen newborns for CF during newborn screening. This is done by taking a few drops of blood from the baby's heel. In the lab, this blood sample is tested for a chemical called immunoreactive trypsinogen (IRT) . This is produced by the pancreas. People with CF have higher levels of IRT in their blood. Babies are tested for IRT at birth and again a few weeks later.

However, some conditions, such as premature birth, can also cause elevated IRT levels. Therefore, a positive IRT test does not necessarily mean that a baby has CF. If the baby's IRT level is higher than expected, the doctor will order further tests to make a final diagnosis.

Sometimes (about 5% of cases), newborn screening may not detect elevated IRT levels in someone with CF. Or, you may not have been routinely tested for CF at birth. If you or your baby have symptoms of CF, a doctor will do a sweat test and, if necessary, other tests.

Tests for cystic fibrosis (CF)

• Sweat test: This measures the amount of chloride in your sweat. People with CF have higher levels of chloride in their sweat. This is the most specific test for diagnosing CF. However, it can be normal in people with atypical CF.
• Genetic tests: Blood samples are taken to check for changes in the genes that cause CF.
• Imaging tests: Things like X-rays of the nasal cavity and chest are used to confirm or support the diagnosis of CF. These imaging tests alone cannot diagnose CF.
• Pulmonary function tests (PFTs): These measure how well your lungs are working.
• Sputum culture: Your doctor will take a sample of the mucus that comes out of your lungs when you cough and test it for bacteria. Some types of bacteria, such as Pseudomonas, are more common in people with CF.
• Pancreatic biopsy: This allows your doctor to see if there are any cysts or lesions in your pancreas.
• Nasal potential difference (NPD): This measures the small electrical charge that normally exists in the lining of the nose. This charge is created by the movement of ions. People with CF have less movement of ions because of the way CF affects the ion channels.
• Intestinal current measurement (ICM): To perform this test, a doctor takes a sample of rectal tissue. The laboratory measures how much chloride is secreted from this sample.

How is cystic fibrosis (CF) treated?

Unfortunately, there is no cure for CF. However, with the help of a CF specialist and others on your healthcare team, you can manage the disease and its symptoms. This management includes:

• Keeping the airways clear and open by using breathing techniques and phlegm-dissolving devices.
• Drugs that help correct problems with the `CFTR` protein (`CFTR modulators`).
• Medications that reduce specific symptoms.
• Make sure you get enough and the right amount of calories from food.
• Surgery.

Airway clearance techniques

If you have CF, there are several ways to keep your airways clear:

• Cough and breathing techniques: A physical therapist who specializes in CF can teach you techniques to open your airways and loosen mucus.
• Positive expiratory pressure (PEP) devices: These PEP devices can be worn in the mouth or worn as a mask. They provide resistance, so you have to work harder to breathe out. This opens the airways and pushes out mucus. Vibration PEP devices (e.g., Flutter®, Acapella®, AerobikA®, RC-Cornet® ) are special types of PEP that combine vibration to help loosen mucus.
• Airway clearance vests: Also called a high-frequency chest wall oscillation device, this is an inflatable vest connected to a machine. The vest vibrates and breaks up mucus.
• Postural drainage and percussion: This is a physical therapy technique. You move into positions that help clear mucus from your lungs. Another person taps your chest and/or back to help loosen the mucus. This can be done in conjunction with cough-inducing techniques.

CFTR modulators for cystic fibrosis

CFTR modulators are a class of drugs that help correct problems with proteins made by the mutated CFTR gene and increase the amount of the protein that works properly on the surface of cells. They do not cure CF. But some people have had significant improvements in their symptoms and life expectancy. However, these modulator treatments are not suitable for everyone with CF, and some cannot tolerate them.

Some examples of `CFTR modulators`:

• `Kalydeco® (ivacaftor)`
• ``Orkambi® (ivacaftor/lumacaftor)''
• `Symdeko® (ivacaftor/tezacaftor)`
• `Trikafta® (ivacaftor/tezacaftor/elexacaftor)`

Other medications for cystic fibrosis

Your doctor may also prescribe other medications to reduce inflammation, treat infections, or manage symptoms. These include:

• Antibiotics: Your doctor may prescribe antibiotics to treat or prevent infections.
• Inhaled bronchodilators: Bronchodilators open and relax the airways, making it easier to breathe.
• Inhaled hypertonic saline: The salt in saline solutions attracts water, which thins mucus and makes it easier to cough up.
• Anti-inflammatory drugs: These drugs reduce swelling. These include corticosteroids and nonsteroidal anti-inflammatory drugs (NSAIDS) .
• Pancreatic enzymes: These help digest food and absorb nutrients from it.
• Stool softeners: These help with conditions like constipation and make it easier to pass stool.

Diet for cystic fibrosis (CF)

If you have CF, your dietary needs are different from those of someone without CF. Because of CF, your pancreas may not be able to make or secrete the enzymes that help you digest food. This means your intestines may not be able to properly absorb the nutrients and fats in your food.

Your CF specialist or registered dietitian will recommend a nutritional plan for you. It may include:

• Daily calorie intake. This can be about twice as much as someone without CF.
• Eating a diet high in fat. This is important to get more fat-soluble vitamins.
• Maintaining a higher than normal body weight from childhood. This can help you grow taller and your lungs expand. This can help with symptoms as you get older.
• Taking enzyme supplement capsules. Enzyme supplements help with digestion.
• Adding more salt to your diet. This helps replace the extra salt your body loses through sweating. This is especially important during hot, humid weather and when exercising. Ask your doctor about how much salt you need per day.

Surgery for cystic fibrosis (CF)

You may need surgery for CF or a complication of CF. This may include:

• Surgeries related to the nose or sinuses.
• Surgery to remove intestinal obstructions.
• Lung transplant.
• Liver transplant.

Is cystic fibrosis (CF) a life-threatening condition?

Yes, CF is a life-threatening condition. The main cause of death is lung damage caused by thick mucus and frequent lung infections.

What is the life expectancy of someone with cystic fibrosis (CF)?

According to experts, in recent years the life expectancy of someone born with CF has been around 50 years. A few years ago, life expectancy was between 30 and 40 years, but this has increased in recent years due to advances in treatment methods.

People with atypical CF tend to have a longer life expectancy than those with classic CF.

What should I expect if I have CF?

There is no cure for CF. You or your child will need lifelong treatment to manage it. This includes treating infections, maintaining nutrition, and seeing a CF specialist regularly. However, new treatments have helped children with CF live well into adulthood and have a better quality of life.

Treatment works best when CF is detected early. That's why newborn screening is so important. Starting treatments like CFTR modulators at an early age can improve long-term health and increase life expectancy.

Can CF be prevented?

Because CF is something you are born with, there is no way to prevent it. If you are a carrier of a CFTR gene mutation, you can ask your doctor about prenatal genetic testing and the likelihood that your children will develop CF.

How can I take care of myself?

Taking care of yourself with CF means working with your healthcare team to develop a treatment plan. To stay healthy, you need to follow this plan very closely. It includes:

• Strictly follow your respiratory cleansing routine.
• Taking medications as prescribed.
• Continue to attend clinics with your CF medical team.

Get recommendations from your doctors about a healthy eating plan and safe physical activity that's right for you. Ask your doctor if pulmonary rehabilitation is a good idea for you.

You can reduce your risk of infection by avoiding people who are sick, practicing good handwashing techniques, and getting recommended vaccinations .

You can also take part in clinical trials that test new treatments for CF. Ask your doctor if there are any that are right for you. Be sure to get full information about the benefits and risks of clinical trials.

When should I see my doctor?

Attend all scheduled clinics with members of your healthcare team. Talk to your doctor if you have any questions about your treatment plan or your symptoms. Ask them what to do if you have signs of an infection. You can also tell them if you need help with social or emotional problems.

When should I go to the Emergency Department (ETU) ?

If you have these severe symptoms, go to the emergency room immediately:

• High fever (over 103 degrees Fahrenheit/40 degrees Celsius).
• Difficulty breathing.
• No or very little urine output.
• Persistent pain in the chest or abdomen.
• Dizziness.
• Confusion.
• Severe muscle pain or weakness.
• Seizures.
• Blue color of the skin, lips, or fingernails (`cyanosis` - this can be a sign of low oxygen levels in your blood or tissues).
• If the fever or cough gets better or goes away, then gets worse again.

What questions should I ask my doctor?

You can ask your doctor questions like these:

• What treatment options do I have?
• What is a healthy eating plan I can follow?
• What can I do to manage my symptoms?
• What signs of infection should I look out for?
• When should I see you again?
• What symptoms should I go to the emergency room for?
• Do you want to check other family members?

Why shouldn't people with CF touch each other?

Health professionals generally recommend that people with cystic fibrosis (CF) avoid close contact with others. This is because people with CF can easily catch infections that others can easily control. They are also more likely to spread germs to others with CF (who also have infections that are difficult to control). People with CF should also avoid anyone who is sick.

Finally, something (Take-Home Message)

It's normal to feel a little overwhelmed when you're diagnosed with a lifelong condition. However, new treatments and a better understanding of cystic fibrosis mean you have more time to take things one day at a time. Many people with CF can now expect to live full lives into adulthood. A child diagnosed with CF today is likely to have even more treatment options in the future.

Gather a team of loved ones and medical professionals you trust to understand what to expect, to help you cope with the challenges of everyday life. And, don't be afraid to get a second opinion at any point along the way. You are not alone, and there are many people who can help you through this journey.

` Cystic fibrosis, genetic diseases, lung diseases, mucus, CFTR gene, children's health, respiratory problems