Cystic Fibrosis Awareness : Pathophysiology of CF & Treatment

Emma is a 28-year-old graphic designer, full of energy, and radiating enthusiasm in life. She has had cystic fibrosis (CF) since her childhood and undergoes day after day the stress of due treatments and frequent hospital check-ups. But Emma does not let that situation take her down. Her enthusiasm for life is matched by only a few whose existence with cystic fibrosis is fraught with such a horrible life.

While the exact prevalence of cystic fibrosis (CF) among Indians remains unknown, estimates suggest it ranges from 1 in 43,321 to 1 in 100,323. The DF508 mutation frequency among Indian patients is reported to be between 19% and 34%.

Cystic Fibrosis – What is it?

Cystic fibrosis is an autosomal recessive genetic disease that progressively reduces its sufferer’s ability to breathe by making the sufferer prone to persistent lung infections. This is attributed to the affected cells in charge of the production of mucus, sweat, and digestive juices, which make these fluids thick and sticky in consistency.

Cystic fibrosis (CF) is a genetic disease that causes sticky, thick mucus to build up in your body. This can damage your lungs, pancreas and other organs.

These secretions in normal people play a lubricating role. In cystic fibrosis sufferers, like Emma, however, they become glutinous, leading to various forms of blockage, primarily in the lungs and the pancreas.

Cystic Fibrosis Causes

Cystic fibrosis usually arises as a result of mutations in the cystic fibrosis transmembrane conductance regulator, or CFTR, gene. This gene provides instructions for making a protein regulating salt and water inflow and outflow from cells.

When the CFTR protein does not work or is absent, chloride builds up in cells. Cystic fibrosis causes thick, sticky mucus. For a child to have cystic fibrosis, they must inherit two copies of the faulty gene-one from each parent.

 Cystic Fibrosis Symptoms

Cystic fibrosis symptoms range from mild to severe. They may include:

• Persistent coughing, sometimes with phlegm
• Frequent lung infections, including pneumonia or bronchitis
• Wheezing or shortness of breath
• Inability to gain weight despite having a good appetite and taking in enough calories.
• Oily, bulky stools, or worsening bowel movements
• Male infertility
• The salty taste of the skin

For Emma, chronic coughing and recurrent lung infections in the early days pointed to her diagnosis at the age of just two years.

Cystic Fibrosis Diagnosis

The diagnosis of CF cystic fibrosis requires various tests,

1. Newborn screening: Most countries have now included CF in routine newborn screening,
2. Sweat test: Determines the amount of chloride in sweat. 

 Chloride levels in sweat are higher in people who have CF. This is the most conclusive test for CF, but it may be normal in people with atypical CF.

3. Genetic testing: Finds mutations of the CFTR gene.
4. X-ray chest: The classic chest radiographic findings of cystic fibrosis include: bronchiectasis manifested by ring shadows and tram track opacities hyperinflation. bronchial thickening and dilatation. peribronchial cuffing.

5. Lung function tests: Determines the degree of lung functionality.

Early diagnosis is the key for proper management of the condition, thereby enhancing chances for long-term prognosis.

Cystic Fibrosis Treatment

There’s no cure for cystic fibrosis. Early diagnosis and a complete treatment plan can improve both survival and quality of life for the person suffering from CF.

The following are the major aims of cystic fibrosis treatment:

• Prevent and control infections in the lungs.
• Loosen and remove thick mucus from the lungs
• Prevent or treat obstruction in the intestines.
• Ensure proper nutrition.

1. Medications

There are a variety of medications used for cystic fibrosis. These include antibiotics to treat and prevent lung infections and anti-inflammatory drugs.

– CFTR modulators, which support the abnormal protein to function more properly

   – Medicines to thin mucus and help breathing

2. Airway clearance techniques:

   – Chest physical therapy

   – Devices that aid in loosening the mucus.

3. Nutritional therapy:

   – Diet high in calories and fat

   -Taking enzyme supplement capsules to improve digestion.

4.Lung transplant may be a choice for people with end-stage lung disease. 

Emma now attends a center daily for nebulizer treatments and chest physiotherapy, and she recently commenced on a CFTR modulator, which has dramatically improved her lung function.

Also Read : Smart Tips to Keep Your Lungs healthy 

Cystic Fibrosis : Life Expectancy

Patients with cystic fibrosis now live much longer than they did a few decades ago. In the 1950s, only very few children survived long enough to enter grade school. Modern care and treatments have taken most of the CF patients into their 30s, 40s, and sometimes beyond.

The Cystic Fibrosis Foundation states that the median predicted survival age of individuals born between 2015 and 2019 who have CF is approximately 46 years. This is, indeed a great improvement and gives a glimmer of hope for people such as Emma who suffer the disease.

Cystic Fibrosis : When to See a Doctor

Visit your healthcare provider if you or your child have one or more of the following signs and symptoms:

– Persistent coughing or wheezing

-Recurring chest or sinus infections

Poor weight gain despite a healthy appetite

Oily, bulky stools

Difficulty breathing

Salty-tasting skin

If cystic fibrosis is diagnosed before age 2 years, early treatment can make an enormous difference in the long term for people with CF.

Life does not come to a standstill for those afflicted with cystic fibrosis. Advanced treatments can prove so life-enhancing that people can truly live with CF. 

Every person with cystic fibrosis has a different journey, but, with good medical care, support, and the ongoing advancement of treatment, people like Emma really can have a lot of control over their condition and can pursue their goals and dreams. There are many steps forward toward better results and quality of life for those affected by this genetic disorder, starting with greater awareness and understanding.

References:

1. What Is Cystic Fibrosis?. NIH – National Heart, Lung and Blood Institute[Internet].

https://www.nhlbi.nih.gov/health/cystic-fibrosis. Accessed Oct. 04, 2024.

2. About Cystic Fibrosis. Cystic Fibrosis Foundation [Internet].

https://www.cff.org/intro-cf/about-cystic-fibrosis. Accessed Oct. 01, 2024.

3. Cystic Fibrosis (CF). American Lung Association[Internet]. 

https://www.lung.org/lung-health-diseases/lung-disease-lookup/cystic-fibrosis. Accessed Sept. 30, 2024.

4. Cystic Fibrosis. NORD – National Organization for Rare Disorders[Internet]. 

https://rarediseases.org/rare-diseases/cystic-fibrosis/. Accessed Sept. 26, 2024.

5. Everything you need to know about cystic fibrosis. MedicalNewsToday[Internet].

https://www.medicalnewstoday.com/articles/147960. Accessed Oct. 05, 2024

6. Cystic Fibrosis Foundation Patient Registry. 2019 Annual Data Report. https://www.cff.org/sites/default/files/2021-10/2019-Annual-Report.pdf

Disclaimer: The content provided in this article is intended solely for educational purposes and should not be considered a replacement for professional medical treatment. Given the distinct needs of each individual, it is advisable for the reader to seek guidance from their healthcare provider to assess the relevance of the information to their specific circumstances.