Alpha1-Antitrypsin Deficiency Follow-up

  • Author: Paul Fairman, MD; Chief Editor: Zab Mosenifar, MD   more...
 
Updated: Mar 16, 2011
 

Further Outpatient Care

  • Measuring pulmonary function yearly permits better counseling and planning for interventions such as initiating replacement therapy (if not already started) or transplantation preparation.
  • Repeat influenza vaccination yearly.
  • Repeat pneumococcal vaccination every 5 years.
Next

Transfer

  • Alpha1-antitrypsin (AAT) deficiency is a rare problem, yet it demands substantial expertise for appropriate management and counseling.
  • Physicians without specific training in the management of this disease or without the time to obtain the necessary expertise should not hesitate to transfer the care of patients to a physician or center with the necessary experience.
  • The Alpha-1 National Association, 1-800-4-ALPHA-1, can help in identifying physicians with experience in the management of this disorder.
Previous
Next

Deterrence/Prevention

  • Instruct patients with homozygous deficiency to avoid exposure to cigarette smoke.
  • Chemical exposures might also have detrimental effects on pulmonary function, but no studies have been conducted to show a relationship between employment and progression of airflow obstruction.
  • Excessive alcohol consumption should be avoided as it may hasten alpha1-antitrypsin deficiency associated liver damage.
Previous
Next

Complications

  • Alpha1-antitrypsin – deficient patients are subject to all the complications characteristic of patients with chronic obstructive pulmonary disease from cigarette smoking.
  • Complications may include pneumothorax, pneumonia, acute exacerbation of airflow obstruction, and respiratory failure.
Previous
Next

Prognosis

The major manifestation of alpha1-antitrypsin deficiency in the first 2 decades of life is liver disease; pulmonary manifestations appear later. Lung function appears to be normal among adolescents with PiZZ compared with a similarly matched group with alpha1-antiprotease levels in the reference range. FVC, FEV1, residual volume, and total lung capacity measurements were not different between the 2 groups. Lung function begins to decline at some later point. FEV1 decreases in adult PiZZ patients at 51-317 mL per year (estimated decline in healthy patients is 30 mL/y).

In the NIH registry, PiZZ individuals had a 16% likelihood of surviving to age 60 years in contrast to an 85% likelihood for the general US population. Emphysema was the most common cause of death (72%), and chronic liver disease was second (10%). In the NIH registry, of 1129 affected individuals, the mortality rate was approximately 3% per year and the excess mortality was ascribable entirely to lung and liver disease.[10]

In the Danish registry, the outlook was better, especially for nonindex cases involving nonsmokers. In this group, survival closely approximated that of the healthy Danish population. The Danish registry confirmed the poor outlook for index cases and the additional mortality risk among patients who smoked.

Prognosis is dependent on how patients are identified. Patients found as a result of screening often have a prognosis near that of healthy people. Those identified because of their symptoms face a more limited future. Specific features that portend a poor prognosis include the following:

  • More severe degree of airflow obstruction (FEV1 >50%, 5-y mortality rate is 4%; FEV1 35-49%, 5-y mortality rate is 12%; FEV1 < 35, 5-y mortality rate is 50%)
  • Significant bronchodilator response (>12% and >200 mL)
  • Smoking
  • Male sex
Previous
Next

Patient Education

Several organizations offer patients and family members education, support and opportunities to participate in research.

The Alpha-1 National Association offers a telephone hotline (1-800-4ALPHA-1), a national newsletter (Alpha-1 News), and local support groups that provide information and support for patients, their families, and their caregivers.

In addition, the AlphaNet and the Alpha 1 Foundation, organizations that provide services to patients and a research focus.

The Alpha-1 Advocacy Alliance information line is 1-866-For-A1AA.

Previous
 
Contributor Information and Disclosures
Author

Paul Fairman, MD  Director, Pulmonary Hypertension Service, Professor, Department of Internal Medicine, Division of Pulmonary and Critical Care Medicine, Virginia Commonwealth University

Paul Fairman, MD is a member of the following medical societies: American College of Chest Physicians, American College of Physicians, and American Thoracic Society

Disclosure: Gilead Honoraria Speaking and teaching; United Therapeutics Corp Honoraria None

Coauthor(s)

Rajiv Malhotra, DO  Assistant Professor, Department of Internal Medicine, Division of Pulmonary and Critical Care Medicine, Virginia Commonwealth University Health System

Rajiv Malhotra, DO is a member of the following medical societies: American College of Chest Physicians, American College of Physicians, and American Osteopathic Association

Disclosure: Nothing to disclose.

Specialty Editor Board

Ryland P Byrd Jr, MD  Professor, Department of Internal Medicine, Division of Pulmonary Medicine and Critical Care Medicine, Program Director of Pulmonary Diseases and Critical Care Medicine Fellowship, James H Quillen College of Medicine, East Tennessee State University; Medical Director of Respiratory Therapy, James H Quillen Veterans Affairs Medical Center

Ryland P Byrd Jr, MD is a member of the following medical societies: American College of Chest Physicians and American Thoracic Society

Disclosure: Nothing to disclose.

Francisco Talavera, PharmD, PhD  Adjunct Assistant Professor, University of Nebraska Medical Center College of Pharmacy; Senior Pharmacy Editor, eMedicine

Disclosure: eMedicine Salary Employment

Om Prakash Sharma, MD, FRCP, FCCP, DTM&H  Professor, Department of Medicine, Division of Pulmonary and Critical Care Medicine, University of Southern California Keck School of Medicine

Om Prakash Sharma, MD, FRCP, FCCP, DTM&H is a member of the following medical societies: American Academy of Allergy Asthma and Immunology, American College of Chest Physicians, American College of Physicians, American Federation for Medical Research, American Osler Society, American Thoracic Society, New York Academy of Medicine, and Royal Society of Medicine

Disclosure: Nothing to disclose.

Timothy D Rice, MD  Associate Professor, Departments of Internal Medicine and Pediatrics and Adolescent Medicine, St Louis University School of Medicine

Timothy D Rice, MD is a member of the following medical societies: American Academy of Pediatrics and American College of Physicians

Disclosure: Nothing to disclose.

Chief Editor

Zab Mosenifar, MD  Director, Division of Pulmonary and Critical Care Medicine, Director, Women's Guild Pulmonary Disease Institute, Professor and Executive Vice Chair, Department of Medicine, Cedars Sinai Medical Center, University of California, Los Angeles, David Geffen School of Medicine

Zab Mosenifar, MD is a member of the following medical societies: American College of Chest Physicians, American College of Physicians, American Federation for Medical Research, and American Thoracic Society

Disclosure: Nothing to disclose.

References

  1. Campos MA, Wanner A, Zhang G, Sandhaus RA. Trends in the diagnosis of symptomatic patients with alpha1-antitrypsin deficiency between 1968 and 2003. Chest. Sep 2005;128(3):1179-86. [Medline].

  2. Fairbanks KD, Tavill AS. Liver disease in alpha 1-antitrypsin deficiency: a review. Am J Gastroenterol. Aug 2008;103(8):2136-41; quiz 2142. [Medline].

  3. Petrache I, Fijalkowska I, Zhen L, Medler TR, Brown E, Cruz P, et al. A novel antiapoptotic role for alpha1-antitrypsin in the prevention of pulmonary emphysema. Am J Respir Crit Care Med. Jun 1 2006;173(11):1222-8. [Medline].

  4. Banauch GI, Brantly M, Izbicki G, et al. Accelerated spirometric decline in New York City firefighters with a1-antitrypsin deficiency. Chest. Nov 2010;138(5):1116-24. [Medline]. [Full Text].

  5. American Thoracic Society, European Respiratory Society. American Thoracic Society/European Respiratory Society statement: standards for the diagnosis and management of individuals with alpha-1 antitrypsin deficiency. Am J Respir Crit Care Med. Oct 1 2003;168(7):818-900. [Medline].

  6. Celli BR, Cote CG, Marin JM, Casanova C, Montes de Oca M, Mendez RA. The body-mass index, airflow obstruction, dyspnea, and exercise capacity index in chronic obstructive pulmonary disease. N Engl J Med. Mar 4 2004;350(10):1005-12. [Medline].

  7. Sandhaus RA, Turino G, Stocks J, Strange C, Trapnell BC, Silverman EK, et al. alpha1-Antitrypsin augmentation therapy for PI*MZ heterozygotes: a cautionary note. Chest. Oct 2008;134(4):831-4. [Medline].

  8. Tutic M, Bloch KE, Lardinois D, Brack T, Russi EW, Weder W. Long-term results after lung volume reduction surgery in patients with alpha1-antitrypsin deficiency. J Thorac Cardiovasc Surg. Sep 2004;128(3):408-13. [Medline].

  9. Orens JB, Estenne M, Arcasoy S, Conte JV, Corris P, Egan JJ. International guidelines for the selection of lung transplant candidates: 2006 update--a consensus report from the Pulmonary Scientific Council of the International Society for Heart and Lung Transplantation. J Heart Lung Transplant. Jul 2006;25(7):745-55. [Medline].

  10. Stoller JK, Tomashefski J Jr, Crystal RG, Arroliga A, Strange C, Killian DN. Mortality in individuals with severe deficiency of alpha1-antitrypsin: findings from the National Heart, Lung, and Blood Institute Registry. Chest. Apr 2005;127(4):1196-204. [Medline].

  11. Alpha-1-Antitrypsin Deficiency Registry Study. Survival and FEV1 decline in individuals with severe deficiency of alpha1-antitrypsin. The Alpha-1-Antitrypsin Deficiency Registry Study Group. Am J Respir Crit Care Med. Jul 1998;158(1):49-59. [Medline].

  12. Brand P, Beckmann H, Maas Enriquez M, Meyer T, Müllinger B, Sommerer K, et al. Peripheral deposition of alpha1-protease inhibitor using commercial inhalation devices. Eur Respir J. Aug 2003;22(2):263-7. [Medline].

  13. Brantly ML, Paul LD, Miller BH, Falk RT, Wu M, Crystal RG. Clinical features and history of the destructive lung disease associated with alpha-1-antitrypsin deficiency of adults with pulmonary symptoms. Am Rev Respir Dis. Aug 1988;138(2):327-36. [Medline].

  14. Celli BR. Pulmonary rehabilitation for patients with advanced lung disease. Clin Chest Med. Sep 1997;18(3):521-34. [Medline].

  15. Fishman AP. Pulmonary rehabilitation research. Am J Respir Crit Care Med. Mar 1994;149(3 Pt 1):825-33. [Medline].

  16. Köhnlein T, Welte T. Alpha-1 antitrypsin deficiency: pathogenesis, clinical presentation, diagnosis, and treatment. Am J Med. Jan 2008;121(1):3-9. [Medline].

  17. Sandhaus RA. alpha1-Antitrypsin deficiency . 6: new and emerging treatments for alpha1-antitrypsin deficiency. Thorax. Oct 2004;59(10):904-9. [Medline].

  18. Seersholm N, Kok-Jensen A, Dirksen A. Survival of patients with severe alpha 1-antitrypsin deficiency with special reference to non-index cases. Thorax. Jul 1994;49(7):695-8. [Medline].

  19. Seersholm N, Wencker M, Banik N, Viskum K, Dirksen A, Kok-Jensen A, et al. Does alpha1-antitrypsin augmentation therapy slow the annual decline in FEV1 in patients with severe hereditary alpha1-antitrypsin deficiency? Wissenschaftliche Arbeitsgemeinschaft zur Therapie von Lungenerkrankungen (WATL) alpha1-AT study group. Eur Respir J. Oct 1997;10(10):2260-3. [Medline].

  20. Stockley RA. Alpha-1-antitrypsin deficiency: what next?. Thorax. Jul 2000;55(7):614-8. [Medline].

  21. Stoller JK, Aboussouan LS. alpha1-Antitrypsin deficiency . 5: intravenous augmentation therapy: current understanding. Thorax. Aug 2004;59(8):708-12. [Medline].

  22. Stoller JK, Smith P, Yang P, Spray J. Physical and social impact of alpha 1-antitrypsin deficiency: results of a survey. Cleve Clin J Med. Nov-Dec 1994;61(6):461-7. [Medline].

  23. Sveger T, Piitulainen E, Arborelius M Jr. Lung function in adolescents with alpha 1-antitrypsin deficiency. Acta Paediatr. Nov 1994;83(11):1170-3. [Medline].

  24. Thelin T, Sveger T, McNeil TF. Primary prevention in a high-risk group: smoking habits in adolescents with homozygous alpha-1-antitrypsin deficiency (ATD). Acta Paediatr. Oct 1996;85(10):1207-12. [Medline].

 
Previous
Next
 
Close-up chest radiograph of the right lower zone of a 39-year-old woman with alpha1-antitrypsin (AAT) deficiency. Normal lung markings are absent in the costophrenic angle. Some lung markings are present in the pericardiac region, but even these are diminished.
CT scan of the right middle and right lower lobes in a 38-year-old patient with alpha1-antitrypsin (AAT) deficiency. Entire middle lobe and much of the lower lobe are emphysematous; normal lung structures have been replaced by abnormal airspaces. Only the posterior portions of the right lower lobe maintain a normal architecture.
Graph outlines alpha1-antitrypsin (AAT) levels and risk of lung disease for the 5 most common phenotypes of AAT deficiency. Dashed line at 11 mmol/L (80 mg/mL) represents the threshold level below which emphysema is common.
 
 
 
All material on this website is protected by copyright, Copyright © 1994-2012 by WebMD LLC.
This website also contains material copyrighted by 3rd parties.

DISCLAIMER: The content of this Website is not influenced by sponsors. The site is designed primarily for use by qualified physicians and other medical professionals. The information contained herein should NOT be used as a substitute for the advice of an appropriately qualified and licensed physician or other health care provider. The information provided here is for educational and informational purposes only. In no way should it be considered as offering medical advice. Please check with a physician if you suspect you are ill.