What is Cystic Fibrosis?

The pancreas, liver, kidneys, and intestines are all affected by cystic fibrosis (CF), a genetic condition. A buildup of thick, sticky mucus in the organs usually causes this condition. Cystic fibrosis affects the cells that produce sweat, mucus, and digestive enzymes. These secretions are normally smooth and silky. They protect numerous organs and tissues from being excessively dry or diseased by lubricating them. In people with cystic fibrosis, however, a defective gene causes the fluid to thicken and stick together. The fluid clogs the body's passageways, ducts, and tubes instead of functioning as a lubricant. Infections, respiratory failure, and starvation can all be life-threatening consequences of this disease. It is critical to get treatment for cystic fibrosis as soon as possible.

Symptoms of Cystic Fibrosis

Cystic fibrosis symptoms vary based on the severity of the disease and the person. The age at which symptoms appear might also be different. The respiratory and digestive systems are affected by the majority of cystic fibrosis signs and symptoms.

Respiratory Problems

The thick and sticky mucus associated with cystic fibrosis often blocks the airways in and out of the lungs. This can cause the following symptoms:

Wheezing
A Persistent cough that produces thick mucus or phlegm
Shortness of breath, especially during exercise
Recurrent lung infections
stuffy nose
Sinus blockage

Digestive Problems

Abnormal mucus can also block the ducts that carry pancreatic enzymes to the small intestine. The intestines cannot absorb the required nutrients from meals without these digestive enzymes. This may result in

Greasy, foul-smelling stools
Constipation
Nausea
Abdominal swelling
Loss of appetite
Insufficient weight gain in children
Delayed growth in children

What Are the Other Names of Cystic Fibrosis?

The other names for cystic fibrosis are as follows:

Cystic fibrosis of the pancreas
Fibrocystic disease of the pancreas
Mucoviscidosis (MU-ko-vis-ih-DO-sis)
Mucoviscidosis of the pancreas
Pancreas fibrocystic disease
Pancreatic cystic fibrosis

When to see a doctor?

Talk to the doctor about getting tested if a parent or the child is having symptoms of cystic fibrosis, or if someone in the family has the disease. Consult a CF-experienced specialist. At least three months of continuous, regular doctor visits are required to effectively manage cystic fibrosis. See a doctor if any new or worsening symptoms appear, such as more mucus than usual, a change in mucus colour, a lack of energy, weight loss, or severe constipation.
Seek immediate medical attention if blood is showing up in cough or if you have chest pain or difficulty breathing, or severe abdominal pain and tenderness.

Get the best treatment for Cystic Fibrosis from our Pulmonologists and Lung specialists at Medicover Hospitals.

Causes

An alteration or mutation in the CFTR gene causes cystic fibrosis (Cystic Fibrosis Membrane Conductance Regulator). The movement of salt and fluid into and out of cells is controlled by this gene. Mucus will build up in the body if the CFTR gene isn't working correctly. The mucus becomes thicker and stickier than it should be due to mutations or alterations in the CFTR gene. This aberrant mucus raises the salt content of perspiration and collects in a variety of organs throughout the body, including the kidneys.

Intestines
Pancreas
Liver
Lungs

Various defects can affect the CFTR gene. The nature of the defect is related to the severity of the CF. The damaged gene is passed from parent to child.

Risk factors

Risk factors for CF include:

Genetic factors

People are more likely to have CF if one or both of their biological parents are carriers or are ill. The risk also increases if people have CF siblings, half-brothers, or cousins.

Race and ethnicity

CF most commonly affects people of Northern European descent. It's not very common for people like

Hispanic
African Americans
Asian Americany

Cystic Fibrosis Complications

The lungs are not the only part of the body damaged by CF. Cystic fibrosis also affects the following organs:

Pancreas

The thick mucus caused by CF blocks the ducts of the pancreas. This prevents food-degrading proteins called digestive enzymes from reaching the intestines. As a result, the body struggles to get the nutrients it needs. Over time, this can also lead to diabetes.

Liver

When the bile-removing tube becomes clogged, the liver becomes inflamed. This can lead to severe scarring called cirrhosis.

Small intestine

Since it is difficult to break down acidic foods from the stomach, the inner wall of the small intestine can be worn down.

Large intestine

The thick fluid in the stomach can make the stool larger and more difficult to pass through. This can lead to constipation. In some cases, the intestines may fold like an accordion. A condition called intussusception.

Bladder

Chronic or long-term coughs weaken the muscles of the bladder. Almost 65% of women with CF suffer from stress urinary incontinence. You will pee a little if you cough, sneeze, laugh, or lift something. It's more common in women, but men can also have it.

Kidneys

Kidney stones can occur in patients with CF. Nausea, vomiting, and discomfort can be caused by these little, hard lumps of minerals. They may develop kidney infections if they are not treated.

Reproductive organs

Excessive mucus affects the fertility of both men and women. Most men with cystic fibrosis have problems with the ducts that carry sperm, called the vas deferens. Women with cystic fibrosis have thick cervical mucus, making it difficult for sperm to fertilise an egg.

Other parts of the body

CF can also cause muscle weakness, bone loss, or osteoporosis. It can also cause low blood pressure, malaise, increased heart rate, and general weakness due to the imbalance of minerals in the blood.
CF is a serious condition that requires routine management, but there are many ways to treat it, and these treatments have improved significantly over the years. People who have CF today can expect to live much longer than those who have CF in the past

Diagnosis of Cystic Fibrosis

CF cannot be prevented. However, genetic testing should be done in a couple with CF or a sick relative. The genetic test can determine the risk of CF in a child by examining a sample of blood or saliva from each parent. Women can also test if she is pregnant and is worried about the baby's risk.

Diagnosis

In most cases, CF is diagnosed in childhood. Doctors use a thorough examination and a variety of tests to diagnose CF. These tests include:

The immunoreactive trypsinogen (IRT) test:

The IRT test is a standard newborn screening test that checks the blood for abnormal protein levels called IRT. High levels of IRT can be a sign of CF.

Sweat test

It measures the salt content of your sweat. Higher than normal results indicate CF.

Sputum test

During the sputum test, the doctor will take a sample of mucus. The sample can confirm the presence of lung infection. You can also indicate the types of bacteria that are present and determine the best antibiotic to treat them.

Chest X-ray

Chest x-rays help reveal swelling of the lungs due to airway obstruction.

CT scan

CT scans use a combination of x-rays taken from different directions to create a detailed image of the body. These images allow doctors to see internal structures such as the liver and pancreas, making it easier to assess the extent of CF-induced organ damage.

Pulmonary function tests (PFTs)

PFT determines if the lungs are functioning properly. This test helps measure the amount of air that can be inhaled or exhaled and how well the lungs transport oxygen to the rest of the body

Treatment

There is no cure for cystic fibrosis, but medications and other therapies can relieve the symptoms.

Medications

Your doctor may give you medicine to open up your airways, thin your mucus, prevent infections, and help your body get nutrients from food. These include

Antibiotics

They can prevent or treat lung infections and help your lungs work better. You can take them in pill, inhaler, or injection form.

Anti-inflammatory medicines

These include ibuprofen and corticosteroids.

Bronchodilators

You will get them from an inhaler. They will help you relax and open your airways.

Mucus thinners

They will help you get rid of waste products in your airways. You will get them from an inhaler.

CFTR modulators

These help the CFTR work as it should. They can improve lung function and help you gain weight.

Combination therapy

The new drug lumacaftor/ivacaftor/tezacaftor (Trikafta) combines three CFTR modulators to target the CFTR protein and make it active.

Airway clearance techniques

These substances can help remove mucus. You can try

Chest therapy or percussion

This involves patting or patting your chest or back to clear mucus from your lungs. Others do it for you.

Oscillating devices

You breathe into a special device that oscillates or vibrates, your airways. This loosens mucus and makes it easier to cough up. You can wear an oscillating chest vest instead.

Physical therapy for CF

This includes breathing exercises designed to push air between layers of mucus and your chest wall. They make it easier to clear dirt and soothe clogged airways. Some popular exercises include the

Autogenic drainage

To do this, you either exhale forcefully or exhale. This will move mucus from the small airways to the central airways and make it easier to clear.

Active cycle of breathing

This controls your breathing and relaxes your upper chest and shoulders, which can help clear mucus and prevent airway obstruction. You inhale deeply, hold, and then exhale for varying lengths of time.

Lifestyle Changes and Self Care

Cystic fibrosis can prevent the intestines from absorbing essential nutrients from food. Your doctor may also recommend antacids, a multivitamin, and a diet high in fibre and salt. If a person has cystic fibrosis, it is important to

Drink plenty of water as it can help thin the mucus in the lungs.
Exercise regularly to help loosen mucus in the airways. Walking, cycling, and swimming are great options.
Avoid smoke, pollen and mould as much as possible. These stimulants can make symptoms worse. Get regular flu and pneumonia shots.
Get influenza and pneumonia vaccinations regularly.

Do’s and Don’ts of Cystic Fibrosis

Today, people with cystic fibrosis (CF) live longer, healthier lives than ever before. If you have CF, medications and treatments can help you manage your disease. However, following the prescribed dos and don'ts can help you prevent the disease's bad consequences. Some guidelines are as follows:

Do’s	Don’ts
Maintain good personal hygiene	Avoid regular medical checkups
Exercise daily	Take stress
Eat a balanced diet	Eat foods containing saturated fat
Take the medicines as prescribed by the doctor	Discontinue the medicine without completing the dosage
Eat plenty of fresh vegetables and fruits	Stay sedentary with no physical activity

Take a little care of yourself and be strong inside to fight this condition.

Cystic Fibrosis Care at Medicover

At Medicover, we have the best team of Pulmonologists and lung surgeons who work together to provide Cystic Fibrosis treatment with utmost precision. Our highly skilled team utilises the latest medical treatments available, diagnostic procedures and other technologies to treat various Cystic Fibrosis conditions and ailments. For treating Cystic Fibrosis, we adopt a multi-disciplinary approach utilizing the excellence of various specialities to provide comprehensive care to the patients and attend to all their medical needs for faster and sustained recovery.