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.
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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 manage cystic fibrosis effectively.
Seek immediate medical attention if blood is showing up or if you have
- Cough
- Chest pain
- Difficulty breathing
- Severe abdominal pain
- Tenderness.
- Weightloss
- Severe constipation
Get the best treatment for Cystic Fibrosis from our Pulmonologists and Lung specialists at Medicover Hospitals.
Causes of Cystic Fibrosis
An alteration or mutation in the CFTR gene, which stands for Cystic Fibrosis Transmembrane Conductance Regulator, is the primary cause of cystic fibrosis. This gene regulates the movement of salt and fluid into and out of cells in the body.
When the CFTR gene is not functioning correctly due to mutations or alterations, mucus starts to build up in various organs. This mucus becomes thicker and stickier than normal, leading to blockages and complications.
Affected Organs:
- Kidneys
- Intestines
- Pancreas
- Liver
- Lungs
The abnormal mucus not only affects the organs mentioned above but also raises the salt content of perspiration.
Inheritance and Severity:
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 of Cystic Fibrosis
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
- HispanicAfrican
- AmericansAsian
- Americany
Complications of Cystic Fibrosis
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 And Treatment 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 they are pregnant and are 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. It is 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 a lung infection. You can also indicate the types of bacteria 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): PFTs determine 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.
- Autogenic drainage: To do this, you either exhale forcefully or exhale slowly. This moves mucus from the small airways to the central airways and makes 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.
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Do’s and Don’ts of Cystic Fibrosis
With advancements in treatment, people with cystic fibrosis (CF) now enjoy longer, healthier lives. Medications and treatments can effectively manage the disease. However, following the dos and don'ts can help you prevent the negative consequences of the disease.
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, diagnostic procedures, and other technologies to treat various cystic fibrosis conditions and ailments. To treat cystic fibrosis, we adopt a multi-disciplinary approach utilising the excellence of various specialities to provide comprehensive care to patients and attend to all their medical needs for faster and sustained recovery.
