Cystic Fibrosis

Cystic Fibrosis What is Cystic Fibrosis? • Cystic fibrosis is a genetic disease (autosomal recessive) that usually appears in early childhood. It causes thick, sticky mucus to build up in the lungs, pancreas, and digestive system. • It can affect people of all races but is more common in Caucasians. It affects males and females equally. • Newborn screening includes a blood test for immunoreactive trypsinogen (IRT) and DNA testing for CFTR gene mutations. If the results suggest cystic fibrosis, a sweat test is done to confirm the diagnosis (chloride level ≥ 60 mmol/L). 2/1 6/2 02 5 2 Early Signs of Cystic Fibrosis (CF) • Poor weight gain • No bowel movements in the first 1-2 days of life • Salty skin • Pale, bad-smelling stools with mucus (Steatorrhea) • Frequent lung infections (pneumonia) • With new treatments, the median predicted survival age for individuals born between 2019 and 2023 is now 61 years, meaning half of those born with CF during this period are expected to live beyond this age. • Many factors, including specific genetic mutations and treatment advancements, can affect individual life expectancy. 2/1 6/2 02 5 3 CF (Cystic Fibrosis) Pancreas: 1. Endocrine dysfunction (insulin deficiency) → CFRD (Cystic Fibrosis-Related Diabetes) 2. Exocrine dysfunction (pancreatic enzyme deficiency) → Malnutrition- need to supplement Respiratory infections: Bronchitis & pneumonia 1. Mucus build-up creates an environment for Pseudomonas and other infections 2/1 6/2 02 5 4 2/1 6/2 02 5 5 CF Respiratory Treatments 1. Clearing Mucus: Chest therapy or devices to remove mucus. 2. Mucus-Thinning Medications: Pulmozyme & Hypertonic Saline: Help loosen mucus. 3. Breathing Medications: Albuterol: Opens airways. Inhaled steroids: Reduce swelling in airways. 4. Antibiotics: Treat lung infections (oral, inhaled, or IV). 5. CFTR Modulator Therapy: Trikafta & Alyftrek: Help CFTR protein work better. 6. Inflammation Control: Azithromycin: Reduces lung inflammation. 7. Nutrition Support: Pancreatic enzymes & vitamins for better digestion. 8. Vaccines: Flu & Pneumonia shots to prevent infections. 9. Lung Transplant: For severe cases when other treatments don’t help. 2/1 6/2 02 5 6 CF Digestive Problems • Malnutrition is common in cystic fibrosis due to pancreatic exocrine dysfunction. • Thick, sticky mucus blocks pancreatic ducts, stopping digestive enzymes from reaching the small intestine. Management: 1. High-Calorie Diet 2. Vitamin Supplements (especially A, D, E, K) 3. Pancreatic Enzymes 2/1 6/2 02 5 7 Cystic Fibrosis Related Diabetes (CFRD) • Cause: CFRD occurs due to pancreatic endocrine dysfunction, leading to insulin deficiency. • Treatment: Insulin therapy (injections or pump) is the standard treatment. • Oral anti-diabetic drugs are rarely effective. • Diet: • No dietary restrictions, unlike Type 1 and Type 2 diabetes. • A high-calorie diet is still recommended for CF patients. 2/1 6/2 02 5 8 CF Lung Infections 1. • • • • 2. • • 3. • • Pseudomonas aeruginosa Most serious infection in CF, common in adults. 80% of CF patients have it by age 18. Routine screening every 3 months with sputum or throat swabs. Treatment: Inhaled antibiotics (Tobramycin) for new infections. Staphylococcus aureus (MSSA, MRSA) Most common infection in children. Early treatment can help prevent lung damage. Haemophilus influenzae Often seen in young CF patients. Usually treated with standard antibiotics. 2/1 6/2 02 5 9 CF Lung Infections 4. Burkholderia cepacia: Rare (3%) but can be severRequires careful infection control in hospitals. 5. ABPA (Allergic Bronchopulmonary Aspergillosis): Fungal infection that worsens breathing. Treated with antifungals and steroids. 6. MAC (Mycobacterium Avium Complex): Rare bacterial infection in some CF patients. Requires long-term antibiotic treatment 2 /1 6/ 20 2 5 10 Pseudomonas aeruginosa • Beta-lactam/Beta-lactamase Inhibitors: Piperacillin-tazobactam (Zosyn) • Cephalosporins: Ceftazidime, Cefepime, Ceftazidime-avibactam (Avycaz), Ceftolozane-tazobactam (Zerbaxa) • Carbapenems: Meropenem, Imipenem-cilastatin • Aminoglycosides: Tobramycin, Amikacin • Fluoroquinolones: Ciprofloxacin, Levofloxacin • Monobactams: Aztreonam 2/1 6/2 02 5 11 Other CF Antibiotics Oral Azithromycin (Chronic Treatment) • Does not directly kill Pseudomonas, but helps reduce inflammation. • Taken three times a week for CF patients over 6 years old with chronic airway inflammation Benefits: Improves lung function(↓ FEV1) Reduces pulmonary exacerbations Decreases need for antibiotics Supports weight gain 47% fewer hospital days 2/1 6/2 02 5 12 Managing CF Lung Health: Inhaled & Systemic Antibiotics • Inhaled antibiotics for individuals with cystic fibrosis (CF) who have chronic Pseudomonas aeruginosa infections. The primary goals are to reduce bacterial load, improve lung function, and decrease exacerbations. 1. Tobramycin: • Forms: Inhalation solution and inhalation powder. • Approved for: Individuals aged 6 years and older with P. aeruginosa. • Dosage: Typically administered twice daily in cycles of 28 days on therapy, followed by 28 days off. 2. Aztreonam Lysine (Cayston): • Form: Inhalation solution. • Approved for: Individuals aged 7 years and older with P. aeruginosa. • Dosage: Administered three times daily using a specific nebulizer, in cycles of 28 days on therapy, followed by 28 days off. 2/1 6/2 02 5 13 Inhaled & Systemic Antibiotics 1. Tobramycin: • Nebulized Solution: TOBI®, Bethkis®, Kitabis Pak® • Dry Powder Inhaler (DPI): TOBI® Podhaler 2. Aztreonam Lysine (Inhaled Antibiotic for Pseudomonas aeruginosa) • Nebulized Solution: Cayston® (Delivered via the Altera® nebulizer) Other Inhaled Antibiotics Used in CF Treatment • Amikacin Liposomal (Inhalation Suspension) • Arikayce® (Used for Mycobacterium Avium Complex - MAC infections in CF patients) 2/1 6/2 02 5 14 Dornase Alfa (Pulmozyme) • A mucolytic enzyme that helps break down thick mucus in the lungs. Improves sputum viscosity and promotes mucus clearance. Reduces exacerbations and improves lung function in cystic fibrosis (CF) patients. • Now approved for all age groups in CF patients. (Previously approved for ages 5+ only.) Recommended for chronic use in CF patients to maintain lung function. • Inhaled once daily using a nebulizer • Administer via an approved nebulizer system: Pulmo-Aide, Pari-Proneb, Mobilaire, or Porta-Neb compressor. • Do NOT mix Dornase Alfa with other nebulized medications. • Storage & Handling: Refrigerate and protect from light. Can be kept at room temperature for up to 24 hours if needed. 2/1 6/2 02 5 15 CF Algorithm Order of Nebulizers Step 1: Bronchodilators (Albuterol via nebulizer) – Dilate airways first. Step 2: Mucolytics - (Hypertonic Saline or Inhaled Mannitol- to draw water into airways and loosen mucus Step 3: Pulmozyme – Break down mucus after hydration. (Dornase Alfa (Pulmozyme)) Step 4: Antibiotics (TOBI / Cayston) – Administer after airway clearance. Step 5: Inhaled corticosteroids (ICS) 2/1 6/2 02 5 16 Inhaled Mucolytics in Cystic Fibrosis Mucolytics help thin and clear thick mucus from the lungs, improving lung function in CF patients. Common options: Hypertonic Saline and Inhaled Mannitol. Hypertonic Saline: • Nebulized and inhaled to increase salt concentration in the airways. • Draws water into the airway, thinning thick mucus and making it easier to cough out. Side Effects: • Coughing • Sore throat or chest pain • Recommended in combination with Dornase Alfa (Pulmozyme) for better mucus clearance. Inhaled Mannitol (Bronchitol®): • Newly approved alternative mucolytic for CF patients. • Dry powder inhaler (DPI) that draws water into the airways to thin mucus. • Requires bronchodilator (Albuterol) use before administration to reduce bronchospasm risk. 2/1 6/2 02 5 17 Pancreatic enzyme replacement therapy (PERT) • It is essential for managing pancreatic insufficiency in cystic fibrosis (CF) patients. Types of Pancreatic Enzyme Products (PEPs): • Enteric-Coated (DR) Capsules: Creon®, Pancreaze®, Pertzye®, Zenpep®, Ultrase • Non-Enteric-Coated Tablet: Viokace® (must be taken with a proton pump inhibitor) Composition: • Contain essential digestive enzymes: Lipase (fat digestion), Amylase (carbohydrate digestion), Protease (protein digestion) 2/1 6/2 02 5 18 Pancreatic enzyme replacement therapy (PERT) Administration: • ALL Enteric-Coated (DR) Capsules: Avoid acid-altering medications (PPIs, H2RAs, antacids, acidic juices) as they interfere with absorption. Exception: Viokace (Not enteric-coated) – Can be taken with acidic medications/juices. • Timing: Take PERT with the first bite of food during meals and snacks. • Swallowing: Swallow capsules whole; do not crush or chew. • For individuals unable to swallow capsules: Open the capsule and mix the contents with a small amount of acidic soft food (e.g., applesauce). Consume immediately without chewing, followed by water or juice. • Do not mix with dairy Products – Calcium can chelate pancreatic enzymes, reducing effectiveness. • Frequency: Can be taken 5–7 times a day depending on meal/snack intake. • Dispense in original container to maintain stability. • Storage: Store PERT products at room temperature, away from moisture and heat. 2/1 6/2 02 5 19 Which Snacks Do NOT Require Pancreatic Enzymes? Simple Sugars: Liquids (tea, coffee, Gatorade, Pedialyte, juices) – Filtered by kidneys, not digested. Simple Sugars (glucose/sucrose): Hard candy, popsicles, jellybeans. Fruits & fruit snacks – Easily digestible, do not require enzymes. 2/1 6/2 02 5 20 High-Dose Ibuprofen in Cystic Fibrosis • Reduces airway inflammation and preserves lung function in CF patients (ages 6–17). • Slows pulmonary decline when used long-term.(Most effective in younger patients (<13 years)) • Used in only a minority of pediatric CF patients. • Requires careful monitoring due to potential risks 2 /1 6/ 20 2 5 21 CFTR Modulator Therapy • Ivacaftor (Kalydeco): ≥4 months (G551D mutation) • Tezacaftor-Ivacaftor (Symdeko): ≥6 years (F508del mutation) • Lumacaftor-Ivacaftor (Orkambi): ≥2 years (F508del mutation) • Trikafta (Elexacaftor/Tezacaftor/Ivacaftor): ≥2 years (F508del mutation) Key Points • Take with fat-containing food • Triple therapy preferred if eligible • Monitor LFTs (ALT, AST) Q3M for 1 year, then yearly 2/1 6/2 02 5 22 For Any Questions Feel free to contact me at: EGhahremanimbar@westcoastuniversity.edu