Transcript Alpha1Presentationx

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Alpha-1: Demystifying the Mystery
Miranda D. Withers, MSN, APRN
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Affiliation to disclose: Speaker for Grifols
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What is COPD?
• Includes chronic bronchitis and emphysema1
• More than 3 million people died of COPD in 2012, which is equal
to 6% of all deaths globally that year2
• Third leading cause of death in the US3
1. American Thoracic Society website; http://www.thoracic.org/clinical/copd-guidelines/resources/copddoc.pdf Accessed February 21, 2015
2. WHO website http://www.who.int/mediacentre/factsheets/fs315/en/. Accessed February 21, 2015
3. Miniño AM, et al. Natl Vital Stat Rep. 2010;59(2):1-52. 4. Mannino DM. Chest. 2002;121(5 suppl):121S-126S.
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COPD Risk Factors

Smoking1
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At least 25% of long-term
smokers develop COPD2
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Asthma/bronchial
hyperreactivity1
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Age1
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Other inhaled agents1

Respiratory infections1
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Genetic factors1
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Socioeconomic status1
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Lung growth and
development1
COPD, chronic obstructive pulmonary disease.
1. Global Initiative for Chronic Obstructive Lung Disease. Global Strategy for the Diagnosis, Management, and Prevention of Chronic Obstructive Pulmonary
Disease—Updated 2014. Available at: www.goldcopd.org. Accessed February 21, 2015. 2. Løkke A, et al. Thorax. 2006;61(11):935-939.
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Facts About Alpha-1
 Up to 25 million Americans have
an abnormal allele (S or Z)2
 An estimated 100,000 Americans
have alpha-13
 90% remain undiagnosed4,5
 Early diagnosis and treatment is associated with health
benefits6
 Most common inherited risk factor for COPD (1 in 10
COPD patients)6
COPD, chronic obstructive pulmonary disease.
1. de Serres FJ. Environ Health Perspect. 2003;111(16):1851-1854. 2. de Serres FJ, et al. Clin Genet. 2003;64(5):382-397. 3. Campos MA, et al. Chest.
2005;128(3):1179-1186. 4. Silverman EK, Sandhaus RA. N Engl J Med. 2009;360(26):2749-2757. 5. About AAT deficiency. http://www.alpha1health.com/healthcareprofessionals/about-aat-deficiency/. Accessed February 21, 2015. 6. Brantly M. Clin Chem. 2006;52(12):2180-2181.
What is Alpha-1 Antitrypsin and
What does it do?
• Protein produced in the liver
• Purpose is to protect the lungs from
neutrophil elastase, which is an
enzyme that digests damaged or
aging cells and bacteria
• Neutrophil elastase can also affect
good, healthy tissue if left unchecked
Alpha-1 Foundation Website www.alpha1.org
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Sharp, R, Serres, F, Newman, L, Sandhaus, R, Walsh, J, Hood, E and Harry, G 2003, ‘Environmental, occupational, and
genetic risk factors for alpha-1 antitrypsin deficiency,’ Environmental Health Perspectives, vol. 111, no. 14, November, pp.
1749-1752.
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Alleles of Alpha-1
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AAT Deficiency is a genetic mutation of
SERPINA1
Most common allele is M and is
considered normal
Most common variations are S and Z
Z produces the least alpha-1 and can
cause the most problems
Individuals who have two copies of the
deficient alleles are considered to have
Alpha-1
NIH Website; http://ghr.nlm.nih.gov/condition/alpha-1-antitrypsin-deficiency; Accessed February 21, 2015
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Myths surrounding COPD
• All COPD (especially emphysema) is caused by smoking
• Alpha-1 is rare, so I don’t need to test my patients
• Alpha-1 results exclusively in emphysema
• I don’t need to test for alpha-1 since there are no treatments
• If I test, I only have to consider homozygous patients (Pi ZZ)
• There is no need to test a smoker for alpha-1
• I do not need to test older patients for alpha-1
• A complete diagnosis of alpha-1 can be made on serum levels alone
• I know an alpha-1 patient when I see one
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What does an
“Alpha”
look like?
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Have you seen this patient?
 Dyspnea
 Decreased exercise tolerance
 Wheezing, Cough
 Excess sputum production
 Frequent lower respiratory tract infections
 History of suspected allergies and/or asthma
ATS Testing Guidelines
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• Test all adults with symptomatic COPD, regardless of
smoking history
• Test all adults with symptomatic asthma whose airflow
obstruction is incompletely reversible after bronchodilator
therapy
• Test asymptomatic patients with persistent obstruction on
pulmonary function tests with identifiable risk factors (eg,
smoking, occupational exposure)
• Test siblings of individuals with alpha-1
Am J Respir Crit Care Med Vol 168. pp 818–900, 2003
DOI: 10.1164/rccm.168.7.818
Internet address: www.atsjournals.org
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Pay special attention to these:
• Family history of lung or liver disease
• Early onset emphysema or emphysema in the
absence of a known risk factor
• Frequent, severe respiratory infections
• Significant decline in lung function following
severe respiratory infection
• Lung function decline that seems greater than
a patient’s smoking history
would predict
American Thoracic Society/European Respiratory Society. Am J Respir Crit Care Med. 2003;168(7):818-900
Making the Diagnosis
• Lab testing including Alpha-1 phenotype
and level and possibly LFT
• Levels alone cannot diagnose Alpha-1
(acute phase reactant)
• Free Testing is available from companies
that provide Augmentation therapy
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Diagnosis is important
 Promotes smoking prevention and
cessation and other healthy lifestyle
modifications
 Increases potential for family testing and
genetic counseling
 Raises awareness to avoid hazards of
occupational
respiratory pollutants
Importance of Finding Carriers
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Management of Alpha-1
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Family testing and counseling
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Lifestyle changes
Drug therapy for lung disorders
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Bronchodilators
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Smoking cessation
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Inhaled steroids
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Exercise
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Antibiotics
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Avoidance of environmental
pollutants
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Oxygen
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Limit alcohol consumption
Vaccinations
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Influenza/pneumococcal
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Hepatitis A/B
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Pulmonary rehabilitation
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Surgical procedures
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Lung transplantation in endstage lung disease
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Lung volume reduction surgery
Augmentation therapy
SaO2, oxygen saturation in arterial blood; VO2 max, maximal oxygen uptake.
1. Global Initiative for Chronic Obstructive Lung Disease. Global Strategy for the Diagnosis, Management, and Prevention of Chronic
Obstructive Pulmonary Disease—Updated 2014. Available at: www.goldcopd.org. Accessed July 7, 2014. 2. British Thoracic Society. Thorax.
2001;56(11):827-834. 3. Ortega F, et al. Am J Respir Crit Care Med. 2002;166(5):669-674. 4. Ries AL, et al. Am J Respir Crit Care Med.
2003;167(6):880-888.
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Benefits of Pulmonary Rehab
• Reduces dyspnea1-3
• Improves endurance2
• Reduces number of hospitalizations2,3
• Improves exercise capacity1,3
• Improves HRQOL3
• Improves survival3
• Reduces anxiety and depression associated with
COPD3
COPD, chronic obstructive pulmonary disease; HRQOL, health-related quality of life.
1. British Thoracic Society. Thorax. 2001;56(11):827-834. 2. American Thoracic Society, European Respiratory Society. Am J Respir Crit Care Med. 2003;168(7):818900. 3. Global Initiative for Chronic Obstructive Lung Disease. Global Strategy for the Diagnosis, Management, and Prevention of Chronic Obstructive Pulmonary
Disease—Updated 2014. Available at: www.goldcopd.org. Accessed February 21, 2015..
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How can I make
time for Alpha-1
testing in my
busy practice?
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Testing Strategies
• Establish a formal practice protocol for ruling out alpha-1 in
COPD patients
• ATS guidelines recommend testing all COPD patients
• Seek out protocols/guidance from the Alpha-1
Foundation’s Clinical Resource Centers (alpha1foundation.org/clinical-resource-centers) or from
published literature and choose what’s right for your
practice
• Identify 1 to 2 in-office “champions”
• Include alpha-1 testing in your practice EMR for current and
newly diagnosed COPD patients
• Place test kits near COPD medication samples
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Resources for Providers & Patients

AlphaNet
1-800-577-2638
www.alphanet.org
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Alpha-1 Foundation
1-877-228-7321
www.alpha1foundation.org
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Alpha-1 Association Genetic
Counseling Center
1-800-785-3177
www.alpha1.org/support/
genetic-counseling-program
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Clinical Resource Centers
alpha-1foundation.org/
clinical-resource-centers
Would You Test an
82-Year-Old?
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 Ethnicity, age, and sex:
 82-year-old white female
 Profession:
 Retired
 Personal history:
 20 pack-year smoker; quit in her late 40s before
COPD diagnosis at age 52
 Widowed 10 years ago with 3 daughters (aged
47, 53, and 55), 8 grandchildren, and 2
grandnieces
 Medical history:
 Diagnosed with COPD at age 52; on COPD
medications for more than 30 years
 LAMA
 ICS/LABA
 Symptoms worsening despite COPD treatment
and occasional use of oxygen
ICS, inhaled corticosteroid; LABA, long-acting beta -agonist; LAMA, long-acting muscarinic antagonist.
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When in doubt,
refer to the
Guidelines…
ATS Testing Guidelines
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• Test all adults with symptomatic COPD, regardless of
smoking history
• Test all adults with symptomatic asthma whose airflow
obstruction is incompletely reversible after bronchodilator
therapy
• Test asymptomatic patients with persistent obstruction on
pulmonary function tests with identifiable risk factors (eg,
smoking, occupational exposure)
• Test siblings of individuals with alpha-1
Am J Respir Crit Care Med Vol 168. pp 818–900, 2003
DOI: 10.1164/rccm.168.7.818
Internet address: www.atsjournals.org
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Questions?