Cystic Fibrosis Overview

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Questions and Answers

Which statement accurately describes the criteria for lung transplant in cystic fibrosis patients?

Presence of other significant vital organ diseases is acceptable.

A psychological profile is not considered in the transplant evaluation.

History of non-compliance with medical regimens can disqualify a patient. (correct)

History of frequent exercise and athletic participation is essential.

What is the expected outcome in terms of mucus production after a successful lung transplant for cystic fibrosis patients?

Implanted lungs will produce the same amount of mucus as normal lungs.

There will be no change in mucus production post-transplant.

Implanted lungs will produce significantly more mucus due to pre-existing infections.

Implanted lungs will produce less mucus since they lack the CFTR defect. (correct)

What is the primary benefit of Trikafta for cystic fibrosis patients?

It is a preventive measure against lung transplants.

It requires a treatment regimen of 7 tablets per day.

It effectively reduces mucus, thereby lowering infection rates. (correct)

It increases the frequency of mucus production.

What approach is used for a bilateral lung transplant?

Bilateral sub mammary incisions for anterolateral access. Signup and view all the answers

What percentage of lung transplant recipients reportedly live more than 10 years post-transplant, according to a 2015 study?

50% Signup and view all the answers

What is primarily disrupted in the lungs due to cigarette smoking?

Elastic fiber network Signup and view all the answers

Which of the following best describes the reason for dyspnea in patients with alveolar destruction?

Impeded gas exchange Signup and view all the answers

What is the typical clinical posture of a patient with severe COPD?

Braced on knees Signup and view all the answers

What is the percentage of COPD cases attributed to smoking?

85% to 90% Signup and view all the answers

In patients with alveolar destruction, what happens to the DLCO level?

DLCO levels are low Signup and view all the answers

What is the primary function of the CFTR protein in relation to cell permeability?

Changes permeability to both Na and Cl Signup and view all the answers

Which symptom is NOT typically associated with cystic fibrosis?

Frequent diarrhea Signup and view all the answers

What complication is MOST associated with cystic fibrosis in males?

Obstruction of the vas deferens Signup and view all the answers

What mechanism leads to pancreatic dysfunction in cystic fibrosis?

Obstruction of pancreatic ducts by viscous secretions Signup and view all the answers

Which of the following is a common pulmonary presentation in patients with cystic fibrosis?

Pneumonia due to opportunistic bacteria Signup and view all the answers

What physiological issue is caused by the accumulation of hyperviscous secretions in cystic fibrosis?

Obstruction of mucous-secreting exocrine glands Signup and view all the answers

Which sign is an indicator of severe respiratory issues in a cystic fibrosis patient?

Cyanosis/digital clubbing Signup and view all the answers

What is a common cause of infertility in females with cystic fibrosis?

Excessive uterine contractions leading to obstruction Signup and view all the answers

What is a telltale result for obstructive lung disease as assessed by a pulmonary function test (PFT)?

Decreased FEV1/FVC ratio Signup and view all the answers

Which component primarily indicates respiratory acidosis in patients with COPD?

Retention of CO2 Signup and view all the answers

What should physical therapists NOT advise COPD patients to do?

Take deep breaths Signup and view all the answers

Which medication class is commonly prescribed to provide long-lasting effects in COPD management?

Beta-2 selective agonists Signup and view all the answers

How does the body compensate for lower oxygen levels in COPD patients?

Increased bicarbonate production Signup and view all the answers

Which condition is characterized by hyperinflation of the lungs and a flattened diaphragm as seen on X-ray?

Emphysema Signup and view all the answers

What is the main role of mucolytics in COPD treatment?

Thin secretions to aid expectoration Signup and view all the answers

What is a common effect of smoking cessation on lung function over the first year?

Improvement in lung function Signup and view all the answers

What is the primary goal of Chest Physical Therapy (CPT)?

To prevent accumulation of secretions Signup and view all the answers

Which position is contraindicated for postural drainage based on the provided information?

Trendelenburg position Signup and view all the answers

What should be avoided during percussion therapy?

Percussing on areas with rib fractures Signup and view all the answers

Which of the following is NOT a goal of CPT?

Increase lung volume permanently Signup and view all the answers

Which of these conditions is a contraindication for both percussion and vibration?

Pneumothorax Signup and view all the answers

What is the correct technique for performing vibration therapy?

Using the flat hand and going 'down and in' Signup and view all the answers

What is a common characteristic of symptoms for obstructive pulmonary diseases?

Difficulty exhaling air Signup and view all the answers

Which of the following is an intervention focused on secretion management in cystic fibrosis?

Deep breathing exercises Signup and view all the answers

What is the consequence of using the Trendelenburg position in certain patients?

Exacerbates gastroesophageal reflux disease (GERD) Signup and view all the answers

What is the best method to ensure effective coughing during CPT?

Maximizing cough function effectiveness Signup and view all the answers

Which of these triggers can potentially initiate an asthma attack?

Cold air Signup and view all the answers

Which condition is characterized as a blanket term for chronic bronchitis and emphysema?

Chronic obstructive pulmonary disease (COPD) Signup and view all the answers

What should be avoided for patients with unstable conditions during CPT?

Postural drainage Signup and view all the answers

What is the effect of quitting smoking on lung function compared to those who continued smoking?

Improved lung function steadily over time Signup and view all the answers

Study Notes

Cystic Fibrosis

Cystic fibrosis is caused by a genetic mutation that affects the transmembrane conductance regulator (CFTR) protein.
The CFTR protein is responsible for transporting sodium chloride (NaCl) across cell membranes.
This mutation leads to an electrolyte abnormality, resulting in an accumulation of hyperviscous secretions.
These secretions obstruct mucous-secreting exocrine glands, preventing delivery to target organs.
The most affected organs are the lungs, pancreas, reproductive system, and sweat glands.

Cystic Fibrosis: Impairments

Dysfunctional Cl channel epithelial function: Leads to abnormal concentrations of Na and Cl.
Blocked exocrine gland function: Prevents the delivery of critical digestive enzymes and fluids.
Increased susceptibility to chronic endobronchial colonization: The thick mucus can trap bacteria, leading to recurrent infections.

Cystic Fibrosis: Pancreatic Dysfunction

Viscous secretions obstruct the pancreas in utero, causing inflammation and fibrosis.
This results in maldigestion of proteins, leading to greasy, bulky, and foul-smelling stools.

Cystic Fibrosis: Pulmonary Dysfunction

Obstruction of small airways leads to air trapping and atelectasis (collapse of lung tissue).
Progressive airway obstruction reduces gas exchange.
This creates an environment for opportunistic bacteria, leading to inflammation, bronchiectasis (widening of airways), and irreversible airway damage.

Cystic Fibrosis: Presentation

Common symptoms include persistent cough, recurrent pneumonia, excessive appetite with poor weight gain, salty skin/sweat, bulky foul-smelling stools, infertility, nasal polyps, chronic wheeze, glucose intolerance, tachypnea (rapid breathing), cyanosis (bluish skin), digital clubbing, pneumothorax, hemoptysis (coughing up blood), and right tracheal deviation in case of severe pneumothorax.

Cystic Fibrosis: Associated Medical Complications

Increased incidence of diabetes mellitus, intestinal obstruction, hepatobiliary involvement, recurrent pancreatitis, obstruction of the vas deferens (leading to infertility in males), sinusitis (with persistent headaches), pneumothorax, clubbing, anorexia, and malnutrition.

Cystic Fibrosis: Lifespan and Treatment

Patients are now living into their third and fourth decades of life due to advancements in treatments.
A major breakthrough in 2019 was the development of Trikafta, a highly effective CFTR modulator.
Trikafta is approved for patients with at least one F508del mutation in the CFTR gene, representing 90% of the CF population.
It reduces mucus, infections, and scarring.

Lung Transplantation

Double lung transplantation is a treatment option for patients with severe cystic fibrosis and pulmonary disease.
It is done bilaterally through bilateral sub mammary incisions for an anterolateral approach.

Lung Transplantation: Criteria

Criteria for lung transplantation include severe pulmonary disease with marked hypoxemia, increased frequency of hospitalizations, increased antibiotic resistance, no other significant vital organ disease, history of medical compliance, acceptable psychological profile, and the age of the patient (as many recipients are adolescents).

Lung Transplantation: Post-Transplantation

Implanted lungs will have less mucus because they lack the CFTR defect.
However, the CF process continues in all other affected systems.
Studies show that 67% of recipients survive beyond 5 years, with half of them living beyond 10 years.

COPD (Chronic Obstructive Pulmonary Disease)

A progressive lung disease characterized by airflow limitation and inflammation primarily caused by smoking.
It is not solely caused by smoking, but 85-90% of emphysematics have a history of smoking.
Only about 20% of smokers develop COPD.

COPD: Pathogenesis

Cigarette smoking leads to a disruption of the elastic fiber network in the lungs.
This results in increased lung compliance coupled with decreased elasticity, leading to air trapping.
Normal, unforced exhalation relies on elastic recoil, which is impaired in COPD.

COPD: Clinical Picture

Symptoms include dyspnea (difficulty breathing) at rest, cough with scant production (mucus plugs), thinness (cachexia), eating effortful, tachypnea (rapid breathing) with prolonged exhalation, use of accessory muscles for ventilation, typical posture braced on knees, and barrel chest.

COPD: Diagnosis

Commonly remembered as "pink puffers."
Polycythemia (increased production of red blood cells) is a common feature due to the body compensating for reduced oxygen levels.

COPD: X-ray Findings

Hyperinflation, flattening of the diaphragm, and costophrenic angles (spaces between the ribs and diaphragm) become less acute, reflecting air trapping.

COPD: Pulmonary Function Tests

Obstructive components are revealed in Pulmonary Function Tests (PFTs) such as:
- Air trapping
- Increased residual volume (RV)
- Disproportionate reduction in the forced expiratory volume in one second (FEV1) compared to the forced vital capacity (FVC)
- The FEV1/FVC ratio is a hallmark of obstructive lung disease.

COPD: ABGs (Arterial Blood Gases)

COPD patients typically have respiratory acidosis with partial metabolic compensation:
- Increased partial pressure of carbon dioxide (pCO2) due to retention of CO2.
- Lower pH (more acidic) due to increased CO2 levels.
- Increased bicarbonate (HCO3) levels reflect the kidneys' attempt to balance the pH.

COPD: Pharmacology

There's significant overlap with asthma medications.
Commonly prescribed medications include:
- Beta-2 selective agonists (both short and long-acting)
- Inhaled corticosteroids
- Anticholinergics (Spiriva, Atrovent)
- Mucolytics (Mucomyst).

COPD: GOLD (Global Initiative for Chronic Obstructive Lung Disease)

A resource for patients and caregivers, GOLD provides recommendations for COPD treatment.

COPD: Role Of Physical Therapy

Physical therapists can advocate for smoking cessation, teach energy conservation techniques, instruct in breath control and pursed-lip breathing (PLB), and teach techniques like controlled huffing, active cycle of breathing, and forced expiration techniques.
However, PTs should avoid asking COPD patients to take deep breaths because this can trap air further.

COPD: Smoking Cessation

Lung function improves in patients who quit smoking and declines in those who continue.
The rate of decline is doubled in those who continue smoking.
Function improves in those who quit, regardless of when the change occurs.

COPD - Remember:

COPD is a descriptive diagnosis, a blanket term which can be used to refer to chronic bronchitis or emphysema alone or in combination.

Chest Physical Therapy (CPT)

CPT is often used to manage secretions in patients with conditions like cystic fibrosis and COPD.
Techniques include:
- Postural drainage/bronchial drainage: Aligning segmental bronchi with gravity to collect secretions centrally, followed by coughing/expectorating to remove them.
- Percussion and vibration: Loosening secretions with rhythmic clapping over the rib cage, and gentle hand vibrations to promote drainage.
- Breathing exercises: Focusing on diaphragm use, controlled breathing, and huffing.

CPT: Goals

Prevent accumulation of secretions.
Increase mobilization and drainage of secretions.
Improve relaxation and avoid muscle splinting.
Maximize chest wall mobility.
Regain efficient breathing pattern.
Instruct in the use of respiratory muscles.
Develop respiratory endurance.
Increase cardiopulmonary exercise tolerance.
Prevent atelectasis (lung collapse) through deep breathing exercises.
Maximize cough function effectiveness.

CPT: Exclusion/Discharge Criteria

Patients who are unstable, unable (due to conditions like OMS or sepsis), or inappropriate (either too severe or too well) for CPT may be excluded or discharged.

CPT: Postural Drainage

Postural drainage positions are used to drain secretions from different lobes and segments of the lungs.
The position is chosen based on the auscultation findings and chart review.
Common positions include:
- Middle lobe (right): Side lying with the patient supported with pillows, turning their head to the opposite side.
- Lower lobe (right): Patient lying on their left side with a pillow under their right hip.
- Lower lobe (left): Patient lying on their right side with a pillow under their left hip.

CPT: Trendelenburg

The Trendelenburg position (head lower than feet) is often depicted in reference manuals but is not endorsed by the Cystic Fibrosis Foundation.
It can contribute to or exacerbate GERD (gastroesophageal reflux disease) and increase aspiration risk, especially in neurologically compromised patients.
It is contraindicated for patients with high intracranial pressure (ICP), uncontrolled hypertension, distended abdomen, post-esophageal procedures, unstable fluid balance, recent hemoptysis related to lung cancer, uncontrolled airway, aortic aneurysm, and many other conditions.

CPT: Percussion

Percussion is used to loosen secretions.
It involves rhythmic clapping over the rib cage with a cupped hand, creating a hollow sound.
Percussion should be performed for at least one minute and only over the ribs.

CPT: Contraindications to Percussion

Contraindications for percussion include pneumothorax, platelets < 50,000, cardiovascular instability, rib fracture or lesion, osteoporosis, cancer metastasis with prolonged steroid use, over surgical incisions or sternotomy, over recent grafts or wounds, bony instability, weight-bearing status, increased INR (international normalized ratio), hemoptysis, undrained empyema, subcutaneous emphysema, pulmonary embolism, flail chest, waiting for ruling out of myocardial infarction (MI), acute tuberculosis, severe pain, and recent spinal fusion.

CPT: Vibration

Vibration is a gentler technique than percussion.
It involves using a flat hand with downward and inward pressure, coordinated with the patient's exhale to promote drainage from the outer tracheobronchial tree towards the central bronchi.
Contraindications for vibration mirror those for percussion.

CPT: Considerations

The use of CPT is often guided by the specific needs and conditions of the patient.
It's a valuable tool for managing secretions and improving respiratory health in various conditions.

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Description

This quiz covers the key aspects of cystic fibrosis, including its genetic causes, effects on various organs, and the physiological impairments associated with the condition. Gain insights into the role of the CFTR protein and its impact on exocrine gland function. Test your knowledge and understanding of this genetic disorder and its complications.