Pulmonology Symposium: Alpha-One-Antitrypsin Deficiency and Pulmonary Hypertension (2) RSS Feed

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Pulmonology Symposium

Course Pre-Test

Pulmonary Hypertension
A. Fatigue
B. Chest pain
C. Dyspnea
D. Syncope

A. Computed tomography scan
B. Echocardiography
C. Cardiac catheterization
D. Pulmonary function testing

A. Calcium channel blocker
B. Endothelin receptor antagonist
C. Phosphodiesterase 5 inhibitor
D. Prostanoid

A. Oral contraceptives
B. Fenfluramine
C. Cocaine
D. Cigarette smoking

A. Peripheral edema
B. Accentuated P2
C. Tricuspid regurgitation
D. Cyanosis

A. I

A. Endarterectomy
B. Endothelin receptor antagonist
C. Prostanoid
D. Phosphodiesterase inhibitor

A. 10%
B. 20%
C. 30%
D. 40%

B. Obesity
C. Male Sex
D. Asthma

A. True
B. False

A. Upper lobes
B. Lower lobes
C. All lobes

A. True
B. False

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Alpha-One-Antitrypsin Deficiency

Alpha-1-antitrypsin deficiency (AAT) is an underrecognized  genetic condition affecting approximately 1 in 2000 to 1 in 5000 individuals and predisposes to liver disease and early onset emphysema. The prevalence of Alpha-1- antitrypsin in the African American population is unknown. Alpha- one-antitrypsin is produced in the liver and functions to protect the lung from proteolytic damage from neutrophil elastase. The Z allele is most commonly responsible for severe deficiency and disease. A serum alpha-one-antitrypsin level below 11 uM increases the risk of emphysema. It is therefore important for primary care physicians to screen for this condition in young individuals, ie those less than 65, with early onset emphysema. These individuals may benefit from  augmentation therapy which represents infusion of purified AAT from pooled human plasma. The infusion of pooled human plasma raises  the serum levels of AAT above the protective threshold. This is believed to slow the decline of lung function and the progression of emphysema.

Needs Assessment

Alpha-one-antitrypsin deficiency predisposes to lung disease (eg: emphysema and bronchiectasis), liver disease (eg: chronic hepatitis, cirrhosis, and hepatoma), skin disease (eg: panniculitis), and vasculitis (eg: C-ANCA vasculitis such as Wegnener granulomatosis). This review will focus largely on  Alpha-one-Antitrypsin  as a predisposing factor for early onset lung disease, generally occurring in the fourth to fifth decades of life. Individuals with AAT deficiency present with the usual signs and symptoms of COPD, including dyspnea, productive cough, and wheezing  in the presence of bronchitis.  Imaging tend to show panacinar emphysema with  involvement of the lower lobes of the lung, as opposed to destruction of the upper lobes of the lungs in typical emphysema. Spirometry reveals an obstructive pattern with an FEV1/FVC ratio less than 70. There may be partial reversibility with bronchodilators as indicated by a 12% and 200ml rise in the FEV1 or FVC postbronchodilator. It is therefore important for primary care providers to screen for this condition with the use of spirometry.

Learning Objectives

At the end of this presentaion participants will be able to:

  • Describe the association of alpha-one-antitrypsin and early onset emphysema.
  • Recognize signs and symptoms that are suggestive of alpha-one-antitrypsin deficiency.
  • Select appropriate tests to screen individuals for possible alpha-one-antitrypsin deficiency.


  1. Tomashefski JF Jr, et al. The Bronchopulmonary pathology of alpha-one-antitrypsin AAT deficiency: findings of the Death Review Committee of the National Registry for individuals with severe deficiency of alpha-one-antitrypsin. Hum Pathol 2004;35:1452-1461.
  2. Brantly MI, et al. Clinical features and history of the destructive lung disease associated with alpha-one-antitrypsin deficiency of adults with pulmonary symptoms.. Am Rev Respiratory Desease 1988;138:327-336
  3. Gishen P., et al. Alpha-1-antitrypsin deficiency: the radiological features of pulmonary emphysema in subjects of Pi type Z and Pi type SZ: a survey by the British Thoracic Association. Clinical Radiology 1982;33:371-377.

Pulmonary Hypertension

Pulmonary hypertension is pathophysiological and hemodynamic state associated with several clinical conditions that can lead to progressive right ventricular failure and death.  It is often misdiagnosed and when diagnosed it is often delayed.  While it is complex and difficult to treat, new knowledge about the pathophysiology has led to developments in diagnostic and treatment options that can be used to reduce symptoms and prolong life.

Learning Objectives

At the end of this presentation participants will be able to:

  • Define pulmonary arterial hypertension
  • List the signs and symptoms associated with pulmonary hypertension
  • Develop a diagnostic strategy for patients with suspected pulmonary hypertension
  • List the treatment options available


  1. Guidelines for the diagnosis and treatment of pulmonary hypertension.  Galie N , Hoeper MM, Humbert M, Torbicki A, Vachiery JL,  Barbera JA, Beghetti M, Corris A, Gaine S, Gibbs JS, Gomez-Sanchez MA, Jondeau G, Klepetko W, Opitz C, Peacock A, Rubin L, Zellweger M, Simonneau G. European Heart Journal (2009) 30, 2493–2537.
  2. ACCF/AHA 2009Expert Consensus Document on Pulmonary Hypertension. A report of the American College of Cardiology Foundation Task Force on Expert Consensus Documents and the American Heart Association. McLaughlin VV, Archer ST, Badesch DB, et al.  J Am Coll Cardiol 2009; 53: 1573–1619.
  3. Exercise training for pulmonary hypertension: another prescription to write?  L Rubin.    Eur Respir J 2012;40:7-8.
  4. Safety and efficacy of exercise training in various forms of pulmonary hypertension. Grunig E, Lichtblau M, Ehlken N, et al. Eur Respir J 2012; 40: 84–92.
  5. Chronic Thromboembolic Pulmonary Hypertension. F.edullo P, Kerr KM, Kim NH, and Auger WR.  Am J Respir Crit Care Med  2011; 183; 1605-1613.


Charles U. Gbadouwey, M.D., FCCP

Charles U. Gbadouwey, M.D., FCCP View Full Profile


Brian W. Carlin, MD, FCCP, MAACVPR, FAARC View Full Profile