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850-Exam 2 material > IP850-Cystic Fibrosis > Flashcards

IP850-Cystic Fibrosis Flashcards

1
Q

Cystic Fibrosis

A
  1. Progressive, life-limiting, genetic disorder
    • Autosomal recessive
  2. More than half of CF population is greater than or equal to 18 years
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2
Q

CF Pathophysiology

A
  1. Mutation of the cystic fibrosis transmembrane conductance regulatory (CFTR) gene causes CFTR protein to dysfunction
  2. Regulates chloride transport across the cell membrane
    - Without Chloride, mucus becomes thick and sticky
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3
Q

F508 del

A
  1. Most common mutation
  2. Protein misfolded, doesn’t reach cell surface

-Over 2000 mutations (Different mutations result in different levels of CFTR function)

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4
Q

Diagnosis

A
  1. Newborn screening
    - NM measures immunoreactive trypsinogen (chemical made by pancreas)
  2. Sweat test
    - Sample of sweat is collected, and concentration of chloride is determined
    - Positive test is greater than or equal to 60 mmol/L in children and adults
  3. Chromosomal analysis
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5
Q

Ivolved Organ Systems

A
  1. Gastrointestinal system
  2. Hepatic system
  3. Pulmonary System
  4. Reproductive System
  5. Bone disease
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6
Q

Possible Patient Signs and Symptoms

A
  1. Poor growth or weight gain
  2. Meconium ileus
  3. Frequent, greasy, bulky stools or difficulty in bowel movements
  4. Frequent lung infections
  5. Wheezing or shortness of breath
  6. Persistent coughing, at times with sputum
  7. Chronic sinusitis
  8. Very salty-tasting skin
  9. Male infertility
  10. Nasal polyps
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7
Q

Pharmacological Therapy

A
  1. Chronic therapy

2. Acute exacerbation therapy

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8
Q

Gastrointestinal System (Goals of therapy)

A
  1. Control pancreatic insufficiency by providing adequate enzyme supplementation
  2. Optimize growth and nutritional status
  3. Promote healthy bowel habits
  4. Maintain normal vitamin levels
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9
Q

Gastrointestinal Tract Manifestations

A
  1. Insufficient secretion of pancreatic enzymes
  2. Fat-soluble vitamin malabsorption
  3. Insulin deficiency
  4. Intestinal obstruction
    • Meconium ileus
    • Distal intestinal obstruction syndrome (DIOS)
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10
Q

Pancreatic Insufficiency

A
  1. Maldigestion of nutrients
    • Symptoms: steatorrhea, frequent loose stools, flatulence, cramping, bloating, poor weight gain, sometimes constipation
    • Below age-related norms for both weight and height
  2. Result of pancreatic enzymes deficiency
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11
Q

Pancreatic Insufficiency: Pancreatic enzyme replacement therapy (PERT)

A
  1. Creon®, Zenpep®, Pancreaze®, UltresaTM, Pertzye®, ViokaceTM
    • Contain lipase, protease, amylase
  2. Enzyme brands are not interchangeable
  3. Delayed release capsules
    • Containing enteric-coated microspheres or minitablets
  4. Products are porcine derived
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12
Q

Pancreatic Insufficiency: Dosing

A
  1. Based on total body weight or fat ingested
2. Dosed on lipase units
• 500-2,500 units/kg/meal
• 10,000 units/kg/day
• 4,000 units/gram of dietary fat/day 
• Take with every meal and snack
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13
Q

Pancreatic Insufficiency: Delayed release capsule administration

A
  1. Delayed release capsule administration
    – Do not crush or chew contents
    – Capsules may be opened and added to small amount of room temperature, acidic food
    • Applesauce
    • Consume immediately, follow with water, juice, formula, breast milk
  2. Regular release tablet administrations
    – Swallow tablets whole with sufficient liquid
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14
Q

Pancreatic Insufficiency: Adverse Events

A
  1. Mucusal irritation
  2. Fibrosing colonopathy and colonic strictures reported at high doses (>6,000 lipase units/kg/meal)
    – Diarrhea
    – Constipation
    – Abdominal pain
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15
Q

Pancreatic Insufficiency: Monitoring parameters

A
  1. Stool fat content
  2. Abdominal symptoms
  3. Nutritional intake
  4. Growth
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16
Q

Fat Soluble Vitamins

A

• Fat soluble vitamin replacement
– A,D,E,K
– Doses higher compared to people without CF

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17
Q

Nutritional Intake

A

• Energy intakes can be greater than standard for general population
– BMI >50-85% for age
– May require nutritional supplementation (Enteral feedings)
• Promotes healthy pulmonary function

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18
Q

Insulin Deficiency: Cystic fibrosis-related diabetes

A 
– Prevalence increases with age
– Associated with worse lung function, poorer nutritional status and increased pulmonary infections
– Shares features of DM type I and II
– Treatment 
   • Insulin
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19
Q

DIOS

Symptoms & Therapy

A
  1. Symptoms
    • Cramping, abdominal pain, poor appetite, abdominal distention
  2. Therapy
    • Electrolyte lavage solutions
    • Endpoint is passage of stool, symptom resolution
20
Q

Hepatic System

A

• Bile duct obstruction can lead to cirrhosis, portal hypertension
• Ursodiol
– Controversial
– 15-20 mg/kg/day; divided BID

21
Q

Pulmonary System

A

• Manifestations result from impaired mucociliary clearance resulting in accumulation of viscous mucus in airways
• Consequences
– Obstruction
– Inflammation
– Infection
• Chronic rhinitis, sinusitis, nasal polyps

22
Q

Pulmonary System Goal:

A

• Goal is to decrease the long-term rate of lung function decline

  1. Airway clearance techniques (ACT)
  2. Anti-inflammatory agents
  3. Mucus alteration
  4. Restore airway surface liquid
  5. Bronchodilators
  6. Chronic antibiotics
23
Q

Pulmonary ACT:

A
  1. Improve ventilation, reduce accumulation of secretions
  2. Done at least BID
  3. Include:
    • Chest/back percussions
    • Exercise
    • Percussion vest
  4. Bronchodilator pre-treatment
24
Q

Anti-inflammatory Treatment:

A
  1. Ibuprofen

2. Azithromycin

25
Q

Anti-inflammatory Treatment:

Ibuprofen

A
  1. Decreased rate of decline of FEV1
  2. 6-17 years with mild lung disease
    • FEV1 ≥ 60%
  3. Peak plasma concentrations of 50 -100 mg/L
  4. 20-30 mg/kg/dose given BID
26
Q

Anti-inflammatory Treatment:

Azithromycin

A

– Unclear if anti-inflammatory effects are due to antimicrobial and/or immunomodulatory mechanisms
– Slows decline in FEV1 in CF patients with Pseudomonas
– Decreased pulmonary exacerbation
– Dosing
• Three times weekly

27
Q

Mucus Alteration

Pulmozyme

A

– Aerosolized recombinant dornase alfa (DNase)
– Decreases viscosity of sputum
– Clinical trials show modest improvement
• 3.2% FEV1 improvement
• Decreased pulmonary exacerbation
– 2.5 mg nebulized once daily or BID
– AEs: hoarseness, voice alteration and pharyngitis – Use select nebulizer, compressor
– Don’t mix with other medications in nebulizer

28
Q

Mucus Alteration

Nebulization Hypertonic Saline

A

– Draws water into airways, improve mucus clearance
– 3-7% nebulized daily-BID
– Improved lung function, decrease exacerbations requiring antibiotics
– May cause bronchospasm, pre-treat with bronchodilator
– Hyper-Sal®, PulmoSalTM, Nebusal®
• PulmoSalTM buffered with sodium bicarb (pH 7.4)

29
Q

Mucus Alteration

-Mannitol inhalation Powder (Bronchiol®)

A
  1. Osmotic agent, draws water into the airways, thins mucus
  2. 18 years of age and older
  3. Dry powder inhaler
  4. Bronchitol ® tolerance test
  5. Albuterol prior to use
  6. Inhale contents of 10 capsules twice daily
  7. Bronchospasm, hemoptysis
30
Q

Chronic Therapy - Pulmonary

A
  1. Inhaled corticosteroids
    – If patient also has asthma, not routinely used
  2. Inhaled short-acting beta 2-agonist
    – Pre-treat with SABA for irritating inhaled therapies
31
Q

Pulmonary System - Pathogens

A 
1. Staphylococcus aureus
– Major pathogen first year of life
2. Haemophilus influenzae 
– Major pathogen by age 3
3. Pseudomonas aeruginosa 
– Major pathogen by age 5
– Colonized
4. Burkholderia, Stenotrophomonas, Aspergillus, MRSA
32
Q

Chronic Therapy - Antibiotics

A

• Chronic antibiotics
– Intention is to prolong time between acute exacerbations

  1. Tobi
  2. Cayston
33
Q

Tobi Podhaler (TOBI)

A

– Nebulized and dry powder inhaler formulations of tobramycin
– P. aeruginosa colonization
– Given BID; 28 days on treatment, 28 days off

– Administration:
• 4 capsules (28 mg/capsule) inhaled 2 times daily
• Inhale 2 times from each capsule
• Take doses 12 hours apart
• Store capsules in blister card until ready to use
• Do not swallow capsules

34
Q

Cayston® (nebulized aztreonam)

A

– P. aeruginosa colonization
– Give TID; 28 days on treatment, 28 days off
– Altera nebulizer system

35
Q

Sequence of Administering Inhaled Medications

A
  1. Bronchodilator
  2. Hypertonic saline
  3. Pulmozyme®
  4. Airway clearance technique
  5. Aerosolized antibiotics
36
Q

Additional Systems:

A
  1. Reproductive system
    – Majority of males have congenital bilateral absence of the vas deferens
  2. Bone disease
    – Low bone density
    – Secondary to vitamin D deficiency, systemic inflammation, corticosteroid use
37
Q

CFTR Modulator: Kalydeco (ivacaftor)

A
  1. Targets the defective CFTR protein, ≥ 4 months
  2. Patients with specific mutations
    • Not homozygous F508del
  3. Improves
    • Lung function
    • Weight gain
    • Quality of life
  4. Expensive
38
Q

CFTR Modulator - Dosing:

A

– Reduce dose
• Moderate-severe hepatic impairment
• CYP3A inhibitors
– Inhibitors: (e.g. ketoconazole, fluconazole): Adjust dose
• Avoid with strong inducers
– e.g. carbamazepine, phenobarbital, phenytoin
• Avoid grapefruit
– Give with fat containing food
– Mix granules in 5 mL of soft food or liquid at or below room temperature (stable for 1 hour)

39
Q

CFTR Modulator - Warnings:

A

– May increase hepatic transaminases
• Monitor liver function: Baseline, every 3 months during 1st year of therapy and yearly after
– Cataracts
– CNS effects: dizziness, may impair abilities

40
Q

CFTR Modulator - Orkambi:

A

– Lumacaftor + ivacaftor
– 2 copies of F508del, ≥ 2 years

1. Drug interactions
– Lumacaftor strong inducer CYP3A
  • Avoid benzodiazepines, immunosuppressants
– Hormonal contraceptives 
  • Decrease effectiveness
2. Respiratory AEs during initiation 
– Chest discomfort, dyspnea
41
Q

CFTR Modulator - Symdeko:

A
  1. Tezacaftor + ivacaftor tablet and ivacaftor tablet
  2. Co-packaged
    • Tezacaftor 100mg/ivacaftor 150 mg fixed dose combination tablet and ivacaftor 150 mg tablet
    • Combination tablet in the morning, monotherapy tablet in evening
  3. ≥6 years old with 2 copies of F508del or at least one mutation that is responsive
42
Q

CFTR Modulator - Trikafta:

A
  1. Elexacaftor + tezacaftor + ivacaftor
  2. ≥12 years old with at least one copy of F508del
  3. Supplied as 2 separate products packaged together
    • Elexacaftor/tezacaftor/ivacaftor
    • Ivacaftor
43
Q

Acute Pulmonary Exacerbation:

Signs and symptoms

A
  1. New or increased cough
  2. New or increased sputum production
  3. Change in sputum appearance
  4. Decreased exercise tolerance, decreased energy
  5. New or increased dyspnea with exertion
  6. Decreased pulmonary function tests
  7. Decreased appetite, weight
  8. Increased nasal congestion or drainage
  9. +/- Fever
  10. Chest x-ray not routinely done; may not show changes over baseline
44
Q

Acute Pulmonary Exacerbation:

Diagnosis of acute exacerbation & Goal of therapy

A

• Diagnosis of acute exacerbation
– Changes from an individual patient’s baseline

• Goal of therapy
– Decrease pulmonary signs and symptoms
– Eradication of P. aeuroginosa is unlikely

45
Q

Acute Pulmonary Exacerbation:

Treatment

A
  1. Antibiotics, oral or iv
  2. Choice depends on culture/sensitivity reports
    • S. aureus, H. influenzae
    • P. aeruginosa –» based on sensitivities
    - Generally, aminoglycosides in combination with an antipseudomonal penicillin
  3. Increased nutrition
  4. Increased ACT
46
Q

Acute Pulmonary Exacerbation:

Antibiotics

A
  1. Dosing at upper end
  2. CF patients have ­increase Vd and Cl
    • As patients age, they approach normal population parameters
47
Q

Investigational Therapies:

A
  1. CFTR modulators
  2. Antibiotics
    – Inhaled levofloxacin
  3. Non-porcine derived enzymes

850-Exam 2 material (19 decks)

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