What Is Cystic Fibrosis?
Cystic fibrosis is an inherited genetic disorder caused by mutations in the CFTR gene. It leads to the production of abnormally thick, sticky mucus in the lungs and digestive tract, which can cause breathing difficulties, recurrent infections, and problems absorbing nutrients.
Common Causes and Risk Factors
- Inherited mutations in both copies of the CFTR gene (one from each parent)
- Having a family history of cystic fibrosis
- No known environmental triggers
Signs and Symptoms
- Persistent, productive cough with thick mucus
- Frequent lung infections such as bronchitis or pneumonia
- Wheezing, shortness of breath, or chest tightness
- Poor weight gain or growth despite a good appetite
- Greasy, bulky stools or difficulty digesting fats
How Dr. Rishi Diagnoses Cystic Fibrosis?
Dr. Chadha uses a step-by-step approach:
Medical History and Physical Exam
He reviews your respiratory symptoms, growth patterns, family history of CF, and performs a thorough lung and abdominal exam.
Sweat Chloride Test
This gold-standard test measures the concentration of chloride in your sweat. Elevated levels confirm CFTR dysfunction.
Genetic Testing
A blood or saliva sample is analyzed for CFTR gene mutations. Identifying specific gene variants guides treatment choices.
Lung Function Tests
- Spirometry - Measures forced vital capacity (FVC) and FEV1 to assess airflow limitation.
- Body plethysmography - Evaluates lung volumes and airway resistance when needed.
Chest Imaging Studies
Chest X-rays or high-resolution CT scans reveal bronchiectasis, mucus plugging, or early lung damage.
Advanced Testing (if needed)
Nasal potential difference testing can quantify ion transport across nasal epithelium for equivocal cases.
Frequently Asked Questions
What is cystic fibrosis?
Cystic fibrosis is a genetic condition that causes thick, sticky mucus to build up in the lungs and digestive tract, leading to breathing difficulties and poor nutrient absorption.
How is cystic fibrosis inherited?
CF is inherited when each parent carries a mutation in the CFTR gene. There is a 25% chance with each pregnancy for a child to be born with CF if both parents are carriers.
What are the common signs and symptoms of CF?
Typical signs include a persistent cough with mucus, frequent lung infections, wheezing, poor weight gain, greasy stools, and difficulty digesting food.
How does Dr. Chadha diagnose cystic fibrosis?
Diagnosis involves a sweat chloride test, genetic screening for CFTR mutations, lung function tests, and chest imaging (X-ray or CT scan).
What treatments are available for CF?
Treatments include pancreatic enzyme supplements, chest physical therapy, CFTR modulator medications, mucus thinners, inhaled antibiotics, and vitamin supplementation.
Can lifestyle changes help manage CF?
Yes. A high-calorie, high-protein diet, adequate hydration, regular chest clearance exercises, and pancreatic enzymes before meals all support better health.
What advanced procedures might be needed?
Advanced or minimally invasive procedures include bronchoscopy to clear airways, sinus surgery for chronic sinusitis, and placement of a PEG tube for supplemental nutrition.
How often should I see the CF care team?
Routine follow-up every 3-6 months is recommended, or sooner if symptoms worsen, to monitor lung function, nutrition status, and overall health.
What is the life expectancy with cystic fibrosis?
With current therapies and multidisciplinary care, many people with CF now live into their 40s and beyond, with ongoing advances improving outcomes.
Do I need to see other specialists?
Yes. Dr. Chadha's team collaborates with pulmonologists, dietitians, respiratory therapists, and other specialists to provide comprehensive CF care.