Respiratory System Diseases - COPD, Alpha-1-Antitrypsin Deficiency, Bronchiectasis & Cystic Fibrosis

Comprehensive set of 150 vocabulary-style practice flashcards covering COPD, Alpha-1-Antitrypsin Deficiency, Bronchiectasis, and Cystic Fibrosis based on Cremona 6 lecture notes.

Small airways in COPD

The primary site of anatomical damage and airflow obstruction in COPD, where the extent of tissue destruction directly correlates with disease severity.

Inflammatory cell progression in COPD

The cellular shift as $FEV_1$ falls, characterised by increasing neutrophils, macrophages, CD8+ T cells, CD4+ T cells, and a sharp rise in B cells and organized lymphoid follicles in advanced disease.

B cells in advanced COPD

Lymphocytes that are uncommon in mild COPD but increase sharply in advanced stages, supporting adaptive immune or autoimmune-like mechanisms that maintain inflammation after smoking stops.

Dominant inflammatory cells in COPD

Neutrophils, CD8+ T lymphocytes, and macrophages.

Dominant inflammatory cells in asthma

Eosinophils, CD4+ T lymphocytes, and mast cells.

Airflow obstruction reversibility

Asthma airflow obstruction is usually reversible, whereas COPD airflow obstruction is not fully reversible and is usually progressive.

TH17-type cytokines in COPD

Cytokines including IL-17 (IL-17A, IL-17F) and IL-22 that recruit neutrophils via chemokines such as CXCL8 (IL-8) and CXCL1, driving airway remodelling.

Radial traction

The outward pulling force exerted by surrounding alveolar walls on small bronchioles to keep them open during expiration.

Airway collapse in emphysema

Loss of alveolar walls and radial traction, causing small lack-of-cartilage bronchioles to collapse easily during expiration when intrathoracic pressure rises.

Expiratory flow limitation

A condition where a COPD patient reaches near-maximum expiratory flow even at rest, preventing meaningful increases in flow during exercise.

Dynamic hyperinflation

The progressive trapping of air and rise in end-expiratory lung volume during exercise or tachypnoea, caused by incomplete expiration before the next breath begins.

Intrinsic PEEP (PEEPi / Auto-PEEP)

Unreleased positive pressure remaining in the alveoli at the end of expiration due to incomplete emptying, creating a threshold workload for inspiratory muscles.

Threshold work in COPD

The initial inspiratory muscle effort required to overcome intrinsic PEEP and drop airway pressure below atmospheric before any air flow actually begins.

Stable severe COPD PEEPi range

Values typically between $2\text{ cmH}_2\text{O}$ and $6\text{ cmH}_2\text{O}$.

Acute exacerbation PEEPi range

Values typically between $6\text{ cmH}_2\text{O}$ and $10\text{ cmH}_2\text{O}$ during acute hypercapnic respiratory failure.

Bilevel NIV (BiPAP) in acute hypercapnic COPD

First-line ventilatory support that provides higher inspiratory pressure than expiratory pressure, reducing threshold work from PEEPi while assisting ventilation to remove $CO_2$.

External PEEP setting limit

The clinical rule that external PEEP should not exceed patient's intrinsic PEEP (usually kept below 75-85% of measured PEEPi) to prevent worsening hyperinflation.

Cellular mechanisms of accelerated lung ageing in COPD

Processes driven by ROS including DNA damage, activation of MAPK/PI3K/NF-kB pathways, protein oxidation, reduced sirtuins and HDACs, telomere shortening, and impaired proteasome function.

Lung age

A historical communication tool used on spirometry reports to explain smoking-related lung damage to patients, rather than a distinct physiological measurement.

Cardiovascular comorbidities in COPD

Conditions frequently co-occurring with COPD, including ischaemic heart disease, stroke, peripheral vascular disease, and heart failure.

Skeletal muscle weakness in COPD

A comorbidity causing roughly a 20-30% reduction in limb muscle strength, highlighting the therapeutic importance of pulmonary rehabilitation.

Systemic inflammatory markers in COPD

Elevated blood proteins including IL-6, TNF-alpha, C-reactive protein (CRP), and fibrinogen.

Spillover hypothesis

Unproven theory that local inflammatory mediators from COPD lung tissue spill over into systemic circulation, causing systemic comorbidities.

BODE index

A multidimensional prognostic score predicting COPD mortality better than $FEV_1$ alone, comprising Body mass index, airflow Obstruction, Dyspnoea, and Exercise capacity.

Blue bloater

Classic phenotype dominated by chronic bronchitis; patients are often overweight, cyanotic, relatively less breathless, and prone to hypercapnia.

Pink puffer

Classic phenotype dominated by emphysema; patients are typically thin/cachectic, severely breathless, and maintain relatively normal oxygenation until late disease.

Targeted case finding in COPD

Actively asking smokers over 40 years old about breathlessness, chronic morning cough, and sputum production to identify underdiagnosed COPD.

Italian case-finding study finding

Recorded COPD prevalence was about 4% but rose to about 10% after directly asking patients simple symptom and smoking questions.

GOLD diagnostic criterion for COPD

A persistent post-bronchodilator $FEV_1/FVC < 0.70$ measured on spirometry.

GOLD 1 (Mild)

Post-bronchodilator $FEV_1 \neq 80\%$ predicted, with $FEV_1/FVC < 0.70$.

GOLD 2 (Moderate)

Post-bronchodilator $FEV_1$ between 50% and 79% predicted, with $FEV_1/FVC < 0.70$.

GOLD 3 (Severe)

Post-bronchodilator $FEV_1$ between 30% and 49% predicted, with $FEV_1/FVC < 0.70$.

GOLD 4 (Very Severe)

Post-bronchodilator $FEV_1 < 30\%$ predicted, with $FEV_1/FVC < 0.70$.

Lower Limit of Normal (LLN)

An alternative diagnostic threshold for airflow obstruction defined by a z-score $< -1.645$, used by ATS/ERS instead of the fixed 0.70 ratio.

Four domains of post-diagnosis COPD assessment

Degree of airflow obstruction, impact of symptoms on daily life, risk of future exacerbations, and presence of comorbid chronic diseases.

COPD Assessment Test (CAT)

An 8-item questionnaire scored from 0 to 40 assessing the overall impact of COPD symptoms on daily life, where score $\ge 10$ indicates higher symptom burden.

mMRC Grade 0

Breathlessness occurs only with strenuous exercise.

mMRC Grade 1

Shortness of breath when hurrying on level ground or walking up a slight hill.

mMRC Grade 2

Walks slower than peers on level ground because of breathlessness, or must stop for breath when walking at own pace.

mMRC Grade 3

Stops for breath after walking about 100 meters or after a few minutes on level ground.

mMRC Grade 4

Too breathless to leave the house, or breathless when dressing or undressing.

GOLD Group E threshold (2026 update)

Patient experiencing at least one moderate or severe exacerbation in the previous year, regardless of symptom score.

Barrel-shaped chest

Physical exam sign reflecting chronic severe hyperinflation, where the chest wall remains expanded near maximal lung volume.

Paradoxical abdominal movement

Inward movement of the abdomen during inspiration caused by severe diaphragm flattening and weakness, where strong negative intrathoracic pressure pulls the diaphragm upward.

Pursed-lip breathing

Expiratory technique creating back-pressure in the airways to prevent small-airway collapse during expiration.

Cor pulmonale

Right ventricular hypertrophy and right heart failure caused by primary pulmonary vascular resistance and pulmonary hypertension from chronic lung disease.

Hypoxic pulmonary vasoconstriction

Physiological narrowing of pulmonary blood vessels in response to alveolar hypoxaemia, contributing to elevated pulmonary vascular resistance in COPD.

COPD exacerbation

An acute worsening of respiratory symptoms (dyspnoea, cough, sputum) requiring additional therapy beyond baseline maintenance medication.

Soler-Cataluna study high-risk pattern

A pattern of 3 or more hospital-treated COPD exacerbations per year associated with markedly elevated mortality.

Mild COPD exacerbation treatment

Managed with short-acting bronchodilators (SABD) only.

Moderate COPD exacerbation treatment

Managed with short-acting bronchodilators plus oral corticosteroids and/or antibiotics.

Severe COPD exacerbation treatment

Requires emergency department or hospital admission, potentially including oxygen and ventilatory support for acute respiratory failure.

Blood eosinophil threshold <100 cells/microlitre

Blood count finding indicating minimal benefit from adding inhaled corticosteroids (ICS) in COPD.

Blood eosinophil threshold >=300 cells/microlitre

Blood count finding strongly supporting the addition of inhaled corticosteroids (ICS) to reduce COPD exacerbations.

Bronchodilator mechanism on lung volumes

Reduces operational lung volumes by lowering residual volume (RV) and functional residual capacity (FRC), thereby increasing inspiratory capacity (IC) and inspiratory reserve volume (IRV).

Bronchodilator effect on Total Lung Capacity

Bronchodilators in COPD do not meaningfully reduce Total Lung Capacity (TLC), but rather decrease hyperinflation and air trapping.

Centrilobular emphysema

Destructive pattern primarily affecting the central secondary lobule, upper-lobe predominant, classically associated with cigarette smoking.

Panlobular emphysema

Uniform destruction across the entire secondary lobule, lower-lobe predominant, classically associated with Alpha-1-Antitrypsin Deficiency.

Paraseptal emphysema

Destruction adjacent to pleural surfaces and interlobular septa, associated with subpleural bullae formation.

Expiratory CT air trapping

Appearance where normal lung increases in density (greyness) during expiration while trapped regions remain dark (lucent).

Alpha-1 antitrypsin (AAT)

A circulating protease inhibitor that protects lung tissue from breakdown by neutrophil elastase.

SERPINA1 gene

Gene located on chromosome 14q that encodes the alpha-1 antitrypsin protein.

Autosomal co-dominant inheritance in AATD

Inheritance pattern where both inherited alleles contribute to the total active alpha-1 antitrypsin serum protein level.

PiZZ genotype

The classic severe deficiency genotype of AATD, producing roughly 10-15% of normal circulating alpha-1 antitrypsin levels.

Null alleles in AATD

Genetic variants that produce no detectable alpha-1 antitrypsin protein, conferring the highest risk of severe early emphysema.

Protective serum AAT threshold

Approximately $11\,\mu mol/L$ (or $57\,mg/dL$ by nephelometry), below which the risk of emphysema rises significantly.

Z carrier frequency

Present in approximately 2-3% of certain Caucasian and North American populations.

Mechanism of lower-lobe predominance in AATD

Greater blood flow at lung bases delivers larger quantities of neutrophils and elastase, accelerating tissue destruction when protective antiproteases are deficient.

AAT testing recommendation

Every patient diagnosed with COPD should be screened for Alpha-1-Antitrypsin Deficiency at least once in their lifetime.

Acute-phase reactant property of AAT

AAT levels increase during active inflammation or infection, meaning testing during an acute exacerbation can falsely mask a deficiency.

Augmentation therapy in AATD

Intravenous infusion of purified human alpha-1 antitrypsin protein, proven to slow the rate of lung density loss on CT.

Onset age of breathlessness in PiZZ genotype

Median onset is approximately 40 years of age in smokers, compared to approximately 53 years of age in never-smokers.

Bronchiectasis

Abnormal, irreversible dilation of the bronchi caused by chronic airway wall damage from recurring infection and inflammation.

Chronic suppurative lung disease

A persistent pus-producing disease process characteristic of active bronchiectasis.

EMBARC registry female percentage

Approximately 60% of patients in the European EMBARC bronchiectasis registry are female.

Periciliary fluid layer

The lower, watery layer of airway surface fluid in which cilia beat freely.

Mucus gel layer

The upper, viscous layer of airway fluid that traps inhaled particles and microbes before mucociliary clearance.

Cole's vicious cycle

Self-perpetuating pathway where poor mucociliary clearance leads to mucus retention, bacterial colonisation, infection, neutrophilic inflammation, protease release, and progressive airway destruction.

Airway wall histopathology in bronchiectasis

Loss of ciliated columnar epithelium with replacement by squamous metaplasia, loss of elastic tissue, and hyperplasia of mucus glands/goblet cells.

Cylindrical bronchiectasis

Mildest morphological pattern, characterized by uniform airway widening with parallel "tram-track" walls and loss of normal bronchial tapering.

Varicose bronchiectasis

Intermediate morphological pattern, featuring irregular, beaded airways with alternating areas of widening and narrowing.

Cystic / Saccular bronchiectasis

Most severe morphological pattern, characterized by large, sac-like bronchial dilations where normal bronchial structure is completely lost.

Reid order of bronchiectasis severity

The structural progression sequence: cylindrical \rightarrow varicose \rightarrow cystic/saccular.

Allergic Bronchopulmonary Aspergillosis (ABPA)

An allergic hypersensitivity reaction to Aspergillus species colonising the airways, leading to mucus plugging and bronchiectasis.

Microaspiration lung regions

Structural bronchiectasis or inflammation secondary to gastric reflux microaspiration commonly affects the right lower lobe, middle lobe, or lingula.

Middle lobe syndrome

Vulnerability of the right middle lobe to collapse and bronchiectasis due to its long, narrow, oval bronchus, poor collateral ventilation, and surrounding lymph nodes.

Temporary post-cessation sputum increase

Transient increase in cough and phlegm after quitting smoking, caused by recovering ciliary clearance moving previously trapped secretions.

Yellow nail syndrome triad

Rare disorder characterized by yellow dystrophic nails, lymphoedema, and respiratory manifestations (pleural effusions, sinusitis, bronchiectasis).

Sputum color significance

Green or dark-yellow sputum indicates purulent neutrophilic inflammation, whereas clear, white, or grey sputum indicates mucoid non-purulent fluid.

Red flag daily sputum volume in bronchiectasis

Exceeding approximately $50\,mL$ per day (roughly five 10-mL spoonfuls), raising concern for severe bronchiectasis or lung abscess.

Three-layer sputum sign

Classic standing sputum presentation separating into top frothy layer, middle watery mucus layer, and bottom thick purulent sediment layer.

Initial treatment for massive haemoptysis

Bronchial artery embolisation (BAE).

Signet ring sign

High-resolution CT finding in bronchiectasis where a dilated bronchus lumen is significantly larger than its accompanying pulmonary artery.

Saccharin test

An older screening test for nasal mucociliary clearance; taste perceived within 45 minutes is reassuring, while $>60$ minutes suggests abnormal clearance.

Nasal nitric oxide (nNO) in PCD

A screening marker that is markedly decreased in Primary Ciliary Dyskinesia, with a typical screening cut-off around $77\,nL/min$.

Kartagener syndrome

A subgroup of Primary Ciliary Dyskinesia characterized by the triad of situs inversus, chronic sinusitis/bronchiectasis, and male subfertility/infertility.

Embryonic mechanism of situs inversus in Kartagener syndrome

Defective motile nodal cilia fail to create directional fluid flow during early development, rendering organ left-right orientation random (50% chance of mirror placement).

Cystic fibrosis incidence

Autosomal recessive disease occurring in approximately 1 in 2,000 to 3,000 live births among Caucasian populations.

CFTR gene location

Located on chromosome 7 (7q31.2).

CFTR protein domains

Consists of two membrane-spanning domains (MSDs) forming the ion pore, two nucleotide-binding domains (NBDs) that bind ATP, and one regulatory (R) domain phosphorylated by PKA.