Causes, symptoms, risk factors and treatment

Cystic fibrosis or CF is a hereditary disorder that affects the lungs and digestive system. This disease changes the way your body produces mucus, digestive juices, and sweat.

More about cystic fibrosis

For healthy people, mucus is slippery and thin. However, in people with cystic fibrosis, it is sticky and tends to thicken. As a result, it begins to block ducts and tubes throughout your body (mainly the pancreas and lungs) on which it is supposed to lubricate.

Over a period of time, this sticky mucus builds up in your airways and begins to settle, causing breathing problems. Bacteria and pathogens also attach to secretions, leaving room for infection.

Cystic fibrosis can also damage the lungs and form scar tissue (fibrosis) and fluid-filled cysts (cysts).

What are the symptoms and signs of cystic fibrosis?

The signs and symptoms of this disease vary from person to person, depending on the severity and duration of its presence. In addition, they can change (improve or worsen) over time within the same person.

In some cases, people with CF may not experience any signs or symptoms until they are teenagers or adults. If the doctor does not diagnose the disease until adulthood, the condition is likely to be moderate and the symptoms are atypical (rare). This includes episodes of recurrent pneumonia, pancreatitis, and infertility. Cystic fibrosis can lead to increased salt content in sweat.

Usually, the signs of illness are mainly related to the digestive and respiratory systems.

Respiratory symptoms

  • Wheezing.
  • Recurrent lung infection.
  • Exercise intolerance.
  • Seizures of sinusitis.
  • Persistent cough with thick sputum (mucus)
  • Congestion of the nose (nose).
  • Swelling of the nasal passages.

Digestive symptoms

If the thick mucus blocks the digestive enzyme pathway on the way from the pancreas to the small intestine, the intestine cannot absorb enough nutrients from food. The result is:

  • A greasy stool.
  • Foul-smelling stool.
  • Chronic constipation.
  • Frequent or difficult bowel movements.
  • Intestinal obstruction.

When should I see a doctor?

Regular screening is important at least once every three months, as cystic fibrosis is a progressive genetic condition. Contact your doctor if:

  • You, your child, or any other family member is in this state.
  • I have one of the symptoms.
  • Your symptoms are getting worse.
  • I have breathing problems, severe chest, or abdominal pain.
  • I see blood when I’m coughing.

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What are the risk factors for cystic fibrosis?

Cystic fibrosis is a hereditary disorder that moves from generation to generation within the family. Therefore, CF family history is the most important risk factor.

What Causes Cystic Fibrosis?

Cystic fibrosis is a hereditary disease caused by a mutation in a gene. The gene is known as the Cystic Fibrosis Membrane Conductance Regulator (CFTR). It alters proteins that regulate the movement of salts inside and outside the cell. As a result, the mucus of the digestive and reproductive systems becomes sticky and thick, and the salt content of sweat increases.

Because CF is a hereditary disorder, parents only get this condition if they inherit (receive) a copy of the defective gene from their father and mother. If you get only one copy, the disease will not occur. However, you act as a carrier of the defective gene and pass it on to the next generation.

What are the complications of cystic fibrosis?

Respiratory complications –

  • Damaged bronchi (airways)
  • Severe chronic infection
  • Nasal polyps
  • Hemoptysis
  • Pneumothorax (collapse of the lungs)
  • Respiratory failure
  • Acute respiratory distress

Digestive complications –

  • Diabetes
  • Liver disease
  • Malnutrition
  • Intestinal obstruction
  • Distal bowel obstruction syndrome (DIOS)

Reproductive complications –

  • Decreased fertility (female)
  • Infertility (male)

What are the treatment options for cystic fibrosis?

Cystic fibrosis does not cure, but treatment is aimed at reducing complications, relieving symptoms, and improving the outlook for the disease. Also, regular screening and early medical intervention can slow the same progression.

This health condition can be complicated. Therefore, it is imperative to receive treatment at a medical facility with a team of medical professionals.

Your doctor will work on the following goals to treat you –

  • Prevention and management of lung infections
  • Providing sufficient nutrition
  • Treatment and management of intestinal obstruction
  • Loosen and remove mucus from the lungs

Treatment options are:

Drugs for gene mutation

Doctors may suggest a CTFR (Cystic Fibrosis Membrane Conductance Regulator) modulator for patients with cystic fibrosis who have a specific genetic mutation. These new drugs help improve the function of defective CFTR proteins. The drug may improve lung function and weight and reduce the amount of salt in sweat.

FDA-approved drugs include:

  • The latest combination of the three drugs consists of Tezacaftor, Elexacaftor, and Ivacaftor. This combination is known as Trikafta. It is also safe for people over 12 years old.
  • The combination of Tezacaftor and Ivacaftor, also known as Symdeko, is permitted for persons 6 years and older.
  • The combination of Luma Caftor and Ivacaftor, known as Orcamuni, is for individuals over 2 years old.
  • Ivacaftor, also known as calideco, is effective over 6 months of age.

Includes other medicines –

  • Antibiotics to prevent and treat lung infections
  • A drug that thins mucus
  • Anti-inflammatory drugs to treat swelling of the airways
  • Inhaled drug to open the airways
  • Pancreatic enzymes for better absorption of nutrients
  • Stool softening due to constipation
  • If you have diabetes, a disease-specific drug.
  • Acid-reducing pills to help digestive enzymes function properly

Airway cleaning treatment

Airway clearance is also known as chest physiotherapy or CPT. This remedy helps to loosen and remove mucus. There are different types of CPT. Included –

  • Tap the back and front of your chest with your cup-shaped hands
  • Apply cough and breathing techniques to loosen certain mucus
  • Use a vibrating device to relieve a cough while loosening mucus.

Pulmonary rehabilitation

Depending on your health, your doctor may also suggest going to a long-term pulmonary rehabilitation program. Such programs often include:

  1. Exercise that can improve your condition
  2. Breathing techniques that may help improve breathing and loosen mucus
  3. Nutrition counseling
  4. Counseling and support
  5. Education about your condition

Surgery and other medical procedures

Other treatment procedures are as follows –

  • Oxygen therapy
  • Surgery on the nose and sinuses
  • Non-invasive ventilation
  • Intestinal surgery
  • Nutrition tube
  • Lung transplant
  • Liver transplant

What lifestyle changes should I consider if I have cystic fibrosis?

Some simple lifestyle changes can make it easier to manage this condition better. These include:

Pay attention to your diet and water consumption

Cystic fibrosis can lead to malnutrition. The reason is that it limits digestive enzymes from reaching the small intestine, causing malabsorption of food. Therefore, people in this state should have higher caloric intake than people without CF. Maintain a healthy diet and drink plenty of water and other fluids. If you don’t know what to eat and what to avoid, you can contact a nutritionist.

Your doctor may recommend the following –

  • Antacid
  • Pancreatic enzymes for each meal
  • Fat-soluble vitamins
  • High calorie nutrition
  • Extra fiber
  • Additional salt intake, primarily before or during hot weather

Get vaccinated on time.

In addition to other regular vaccines for children, if your child has CF, your doctor recommends that you get the flu vaccine every year. Cystic fibrosis does not interfere with your immune system, but children with this condition can experience a variety of health complications when they get sick.

work out

Exercise comfortably and physically, such as cycling, walking and jogging. Exercise also helps maintain physical condition and loosen mucus.

Quit smoking

Stop smoking if you smoke. No one should smoke when you or your child is nearby. Second-hand smoke can be dangerous, especially in the case of cystic fibrosis.

What precautions can I take?

There are some precautions to consider –

  • If you or your partner have CF or this condition is in your family, be sure to have a genetic test before you become pregnant.
  • Also, take all your medicines on time and don’t miss your appointment.

Medical care is very important!

You and anyone with a CF in your family may experience emotions such as anger, fear, depression, and anxiety. Be calm and deal with the situation carefully, or seek help if necessary.

Frequently Asked Questions (FAQ)

  1. What methods do doctors use to diagnose CF?

Your doctor will do several tests, including a physical examination and a blood test, to determine if you have a CF. For newborns, blood samples are checked for higher than normal levels of a chemical called immunoreactive trypsinogen (IRT) released from the pancreas. A sweat test can also be done when the baby is more than two weeks old. Doctors may also recommend genetic testing for specific defects in the genes that cause cystic fibrosis. Elderly people with suspected signs of CF are genetically tested for CF and sweating.

  1. Is Cystic Fibrosis Life-threatening?

Despite being a progressive condition that requires daily care, people suffering from CF can lead a normal life, including going to school or office. Advances in medicine and screening technology have significantly changed the outlook for the disease compared to the last few decades. This means that people with CF can expect a longer lifespan than before.

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