Antitrypsin Deficiency Screening

Antitrypsin Deficiency Screening

RESp 1134 – Cardiopulmonary disease


Chronic Obstructive Pulmonary Disease













Obstructive lung diseases

Obstructive disease process

Patients have difficulty exhaling all the air from the lungs

Exhaled air comes out more slowly than normal

At the end of full exhalation, an abnormal amount of air may still linger in the lungs















Obstructive lung diseases

The most common causes of obstructive lung disease are:

Chronic Obstructive Pulmonary Disease (COPD), which can have two components:

Bronchitis and Emphysema



Cystic Fibrosis





Chronic obstructive pulmonary disease – Definition

When chronic bronchitis and emphysema appear together

Preventable and treatable, but not able to be cured

Characterized by airflow limitation that is not fully reversible

Progressive disease associated with abnormal inflammatory response of the lung to noxious particles or gases





Chronic bronchitis and emphysema can each develop alone; however, they often occur together as one disease complex. COPD refers to two lung diseases, chronic bronchitis and emphysema, which occurs simultaneously. Patients demonstrate a variety of clinical manifestations associated with both disorders and the relative contribution of each respiratory disorder is difficult to acertain.


COPD – Chronic bronchitis

Anatomic Alterations

Chronic inflammation and swelling of the walls of the peripheral airways

Excessive mucous production and accumulation

Partial or total mucous plugging of the airways

Smooth muscle constriction of the bronchial airways (bronchospasm)

Air trapping and hyperinflation of alveoli (in the later stages)





Chronic Bronchitis

Diagnosed based on symptoms

Cough with excessive sputum for at least three months for two consecutive years






Anatomic Alterations

Permanent enlargement and destruction of the air spaces distal to the terminal bronchioles (alveoli)

Destruction of pulmonary capillaries

Weakening of the distal airways, primarily the respiratory bronchioles

Air trapping and hyperinflation








Diagnosed definitively only by lung biopsy or post-mortem exam


Two types







Normal anatomy

Acinus: A grouping of alveoli distal to a terminal bronchiole.


Normal Acinus







Centrilobular Emphysema

Centrilobular (centriacinar) emphysema is characterized by enlargement and destruction of the central part of the acinus (the respiratory bronchioles) with the more distal parts (the alveoli) remaining intact.

The respiratory bronchioles enlarge, become confluent, and are then destroyed.

Most common form of emphysema.

Associated with cigarette smoking






Panlobular Emphysema

In panlobular emphysema, the entire acinus is involved.

The normal structure of the alveoli and alveolar ducts are lost along with the loss of pulmonary parenchyma.

Bullae (emphysematous spaces greater than one cm) are often present in this type of emphysema.










Panulobular Emphysema

Panulobular emphysema can also be genetic.

Caused by Alpha 1 Antitrypsin Deficiency

Protein that protects lung elastin from neutrophil elastase

Neutrophil elastase breaks down elastin during an inflammatory response, resulting in destruction of the alveolar walls

Alpha 1 Antitrypsin lab test

Normal range is 200-400 mg/dl






Precise incidence of COPD is not known.

10-15 million people have chronic bronchitis, emphysema, or a combination of both.

In 2004, the annual cost related to COPD was about $37.2 billion

4th leading cause of death

Since 2000, more women than men have died of COPD







The number one cause of COPD is cigarette smoking.


Mucocillary Escalator is damaged.









Damaged Tissues

& Cells


Plugging &














COPD Risk factors

Risk factors are related to the total burden of inhaled particles over a person’s lifetime.


Tobacco smoke

Occupational dusts or chemicals

Indoor air pollution (i.e., fuel particles related to cooking and heating in poorly vented dwellings)

Outdoor air pollution (small effect in causing COPD)

Conditions affecting normal lung growth may increase a person’s risk of developing COPD (low birth weight, chronic respiratory infections)

Genetic predisposition (Alpha 1 Antrypsin Deficiency)





COPD Signs and Symptoms

COPD should be considered for any patient over 40 with the following symptoms:


Chronic cough

Chronic sputum production

History of exposure to risk factors, such as tobacco smoke



Pulmonary Function Testing can be used to help identify COPD.





Copd signs and symptoms

Pulmonary Function Testing can be used to help identify COPD.


FEV1: How much air a patient can blow out in one second.






COPD Signs and symptoms

Other signs and symptoms are:

Increased Respiratory Rate

Prolonged expiratory time

Hoover’s Sign: Inward Movement of the lower ribs during inspiration

Accessory Muscle Usage

Tripod Positioning

Barrel Chest

Pursed-Lip Breathing

Diminished Breath Sounds, Inspiratory Crackles, Expiratory Wheezing

Digital Clubbing






Stages of copd

Stage 1: Mild COPD – Mild airflow limitation as seen on PFT’s. Symptoms may be so mild that the patient may not recognize abnormal lung function. FEV 1 is greater than 80% of the predicted value.







Stages of copd

Stage 2: Moderate COPD – Worsening airflow limitation as seen on PFT’s. The patient often complains of shortness of breath upon exertion.

Patients usually will seek medical attention at this stage.

FEV 1 is between 50-80% of predicted







Stages of copd

Stage 3: Severe COPD. Further worsening of airflow limitation.

Symptoms impact a patient’s quality of life

FEV 1 is between 30-49% of predicted









Stages of copd

Stage 4: Very Severe COPD: Severe airflow limitation. Chronic ventilatory failure. Quality of life is very impaired. Exacerbations may be life-threatening. FEV 1 is less than 30% of predicted.





Diagnostic Studies for copd

Chest X-ray – cannot definitively diagnose COPD, but can be used to rule out additional diagnoses such as TB or pneumonia.


Flattened hemidiaphragms

“Tram Tracks”: parallel, linear white shows that result from thickening of the airways. Seen in severe cases of chronic bronchitis

Right Heart Enlargement









Diagnostic Studies for copd

Arterial Blood Gas Measurement. This should be performed if ventilatory failure or right-sided heart failure is suspected.


Definition of ventilatory failure: PaO2 is < 60 mmHg and the PaCO2 > 50 mmHg with breathing room air



Bronchodilator reversibility testing to rule out asthma






Diagnostic studies for copd

Alpha-1 Antitrypsin Deficiency Screening






Pink Puffer vs. blue bloater

A patient with emphysema is sometimes referred to as a “pink puffer.”

Derived from a reddish complexion and pursed-lip breathing.

What causes this?

Progressive destruction of the distal airways and pulmonary capillaries

This destruction leads to reduced pulmonary blood flow throughout the lungs (an increased ventilation/perfusion ratio)(The ratio of the amount of air reaching the alveoli compared to the amount of blood reaching the alveoli).

To compensate for an increased V/Q ratio, the patient hyperventilates.

The increased RR works to maintain a relatively normal arterial oxygenation level, and causes a ruddy or flushed skin complexion.

During the end stage of emphysema, the patient’s oxygen status decreases and the carbon dioxide level increases

So, a patient with a rapid RR and a red complexion is called a pink puffer.











Pink puffer vs. Blue bloater

A patient with chronic bronchitis is sometimes referred to as a “blue bloater.”

Derived from cyanosis


What causes this?

Pulmonary capillaries are not damaged.

Patent responds to increased airway obstruction by decreasing ventilation and increasing cardiac output-hypoventilation

Leads to decreased V/Q ratio, which in turn leads to a decreased oxygen level in the blood and an increased CO2 level in the blood

The respiratory drive is depressed in patients with chronic ventilatory failure

The reduced arterial oxygenation levels and polycythemia cause cyanosis















Pink Puffer Vs. Blue Bloater

Pink Puffer

Body = thin

Chest = barrel chest

hypertrophy of accessory muscles

Breathing pattern = progressive dyspnea, labored, retractions, decreased chest excursion

I-E ratio= long exp phase

Cough = little / none

Sputum = little – mucoid



Blue Bloater

Body= heavy, stocky

Chest = normal

increased use of accessory muscles

Breathing pattern = variable, may not be dyspneic

I-E ratio = long exp phase

Cough = increased, frequent

Sputum = large amounts may be purulent






Pink Puffer Vs. Blue Bloater

Pink Puffer

Color = normal (pink)

Percussion = hyperresonance

Auscultation = diminished, may wheeze occasionally

Blood gases = slight hypoxemia, CO2 normal, HCO3 normal

PFT’s = obstructive pattern, reduced exp flows, increased TLC,RV,FRC, decreased DLCO, increased compliance

Blue Bloater

Color = cyanotic (blue)

Percussion = dull

Auscultation = normal intensity, crackles, rhonchi

Blood gases= hypoxemia mod to severe, hypercapnia, compensated resp acidosis

PFT’s = obstructive pattern, reduced exp flows, normal lung volumes, DLCO normal, normal compliance





Pink puffer vs. blue bloater

Pink Puffer

Hematocrit = normal

EKG = decreased voltage, right axis deviation

X-ray = bronchovascular markings decreased, hyper-inflation

Bullae = yes

Cor-pulmonale = uncommon


Blue Bloater

Hematocrit = increased

EKG= right ventricular hypertrophy, Rt axis dev.

X-ray = bronchovascular markings increased, normal inflation

Bullae = no

Cor-pulmonale = common







Respiratory therapy role in copd treatment

Primary Goal: To reduce dyspnea and improve the patient’s quality of life

Smoking Cessation Program

Bronchodilators: Albuterol, Ipatropium Bromide

Corticosteroids: Advair, Solumedrol

Oxygen Therapy

Chest Percussion Therapy/Postural Drainage

Pulmonary Rehabilitation






Respiratory therapy role in copd treatment

Pulmonary Rehabilitation

Improve exercise tolerance

Educate the patient

Improve the overall quality of life

Increase lung function








Copd management






Surgical Options

Lung Volume Reduction Surgery (LVRS)

Removes overextended, functionless lung to allow the other parts of the “good lung” to function better.



Lung Transplant





What Causes an exacerbation?



Pulmonary Edema


Pulmonary Embolism


Give oxygen therapy


Severe cases may require mechanical ventilation

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