What are the Four Main Symptoms of Cystic Fibrosis?

A Complete Guide to Cystic Fibrosis: Types, Tests & Treatments

Cystic fibrosis is an inherited disorder primarily affecting the lungs and digestive system. It results in the production of thick, sticky mucus that can clog airways and harm internal organs. This accumulation of mucus causes difficulties with breathing, recurrent lung infections, and digestive issues.

Understanding the causes, symptoms, and available treatments for cystic fibrosis is key to managing the condition. In this article, you'll learn how cystic fibrosis is diagnosed, how it's treated, and what steps can be taken to improve quality of life.

What are the types of cystic fibrosis?

There are two main types of cystic fibrosis:

• Classic CF: Affects many organs and is usually diagnosed in early childhood.
• Atypical CF: Milder and may affect only one organ. Symptoms may be less obvious and appear later in life, often during the teen years or adulthood.

What are the symptoms of cystic fibrosis?

Common signs of classical CF include:

• Frequent lung infections like bronchitis or pneumonia
• Trouble breathing or wheezing
• A constant cough
• Sinus infections
• Oily or loose stools
• Poor growth
• Difficulty gaining weight even with a good appetite

People with atypical CF may have some of the same symptoms, but they can also experience:

• Long-term sinus infections
• Nasal polyps (small growths in the nose)
• Dehydration or overheating due to imbalanced body salts
• Diarrhoea
• Inflammation of the pancreas (pancreatitis)
• Unexplained weight loss.

What Causes Cystic Fibrosis?

Cystic fibrosis (CF) is a hereditary condition that occurs when a child inherits two defective copies of the CFTR gene, one from each parent. The CFTR gene is responsible for producing a protein that regulates the movement of salt and water in and out of cells. When this protein is faulty, it disrupts this flow and causes problems associated with CF. If the CFTR protein doesn’t work properly:

• The mucus becomes thick and sticky instead of thin and slippery.
• This thick mucus builds up in the lungs, digestive system, and reproductive organs.
• It also causes extra salt to be lost in sweat.

How is Cystic Fibrosis Diagnosed?

Tests for Cystic Fibrosis include:

1. Sweat Test
   
   
   • Measure the amount of chloride (a type of salt) in your sweat.
   • People with CF usually have higher chloride levels.
   • This is the most reliable test for CF but may be normal in people with mild or atypical CF.
2. Genetic Test
   
   
   • A blood test that checks for mutations in the CFTR gene, which causes cystic fibrosis.
3. Imaging Tests
   
   
   • X-rays of the chest or sinuses can help show signs of CF.
   • These tests support the diagnosis but can’t confirm CF alone.
4. Lung Function Tests (Pulmonary Function Tests)
   
   
   • Check how well your lungs are working, including how much air you can breathe in and out.
5. Sputum Culture
   
   
   • A sample of mucus from the lungs is tested for bacteria.
   • Certain bacteria, like Pseudomonas, are more common in people with CF.
6. Pancreatic Biopsy
   
   
   • A small sample of tissue is taken from the pancreas to check for cysts or damage.
7. Nasal Potential Difference (NPD)
   
   
   • Measures the electric charge in the lining of the nose.
   • This charge is created by moving salts (ions). In CF, this movement is reduced, so the charge is lower.
8. Intestinal Current Measurement (ICM)
   
   
   • A small piece of rectal tissue is tested in a lab to see how much chloride it releases.
   • This helps check if the ion channels are working properly.

How is Cystic Fibrosis Treated?

There is no cure for cystic fibrosis, but treatments can help manage symptoms and improve quality of life:

Airway Clearance Techniques

• Coughing and Breathing Techniques: Special methods taught by a CF-trained physical therapist to loosen mucus.
• Positive Expiratory Pressure (PEP) Devices: These help keep airways open and push out mucus by making you breathe out against resistance.
• Airway Clearance Vests: A vibrating vest that helps loosen mucus in the chest.
• Postural Drainage and Percussion: Lying in certain positions while someone claps your chest or back to help mucus drain.

CFTR Modulators (for Some People with CF)

• Help fix the faulty CFTR protein and improve how it works.
• They are not a cure, but they can greatly improve symptoms and life expectancy in eligible patients.

Other medications for cystic fibrosis include:

• Antibiotics: to treat or prevent infections.
• Bronchodilators: to relax and open the airways.
• Inhaled Hypertonic Saline: to draw water into mucus and thin it out.
• Anti-inflammatory Medicines: to reduce swelling (e.g., steroids, NSAIDs).Some anti-inflammatories like high-dose ibuprofen (in select pediatric cases) or azithromycin (for immunomodulation) may be used.
• Pancreatic Enzymes: to help digest food and absorb nutrients.
• Stool Softeners: to ease constipation.

What is the diet for cystic fibrosis?

People with CF often need extra calories and fat to grow and stay healthy. A CF diet may include:

• More calories than average (sometimes twice as much).
• High-fat foods to get more vitamins.
• Maintaining a healthy weight, especially in childhood, to support growth and lung health.
• Enzyme supplements to help with digestion.
• Extra salt, especially during hot weather or exercise.

What are the complications of cystic fibrosis?

Cystic fibrosis can lead to a number of health problems, including:

• Lung Infections: Thick mucus traps germs, leading to frequent infections in the lungs and airways.
• Infertility in Males: Some men with CF are born without the tubes (vas deferens) that carry sperm. This makes it hard to have biological children without medical help.
• Diabetes: Damage to the pancreas can lead to a form of diabetes linked to CF.
• Poor Nutrition: Mucus can block the release of digestive enzymes, making it hard to absorb nutrients from food.
• Bone Problems: Lack of nutrients can cause weak bones, leading to conditions like osteopenia or osteoporosis.
• Pregnancy Issues: Women with CF may have trouble with nutrition, which increases the risk of problems during pregnancy. The most common issue is early (preterm) birth.

Cystic fibrosis is a challenging condition, but with the right treatment and regular care, many people with CF can live longer, healthier lives. Managing symptoms early, following medical advice, and making healthy lifestyle choices can greatly improve quality of life and help prevent serious complications.

Having reliable health insurance is also important to make sure you can access the medications, therapies, and specialist care you need.

At Star Health, our insurance plans cover a wide range of chronic conditions like cystic fibrosis, with easy claim options and support every step of the way.