educating healthcare professionals and advancing public policy for the Alpha-1 Community.” 
|
Be the First to know
sign up for our TWITTER
| Home | |
| A1AA Donation Shoppe | |
| Mission Statement | |
| What is Alpha-1 | |
| Need Help Now ! | |
|
Informational Resources
| |
| Alpha-1 Vets | |
| Health Tips | |
| FAQs | |
| Lending Library | |
| Caregivers | |
| Membership | |
| Management Team | |
|
A1AA Published Archive
| |
| Press Room | |
| Our Partners and Links | |
| Alpha-1 Advocacy Summary | |
|
in the Alpha Community  |
|
Simply click HERE provides AAT Deficiency Testing. This AAT Deficiency Testing is a COMPLETE CONFIDENCIAL TESTING SERVICE and WITHOUT COST TO YOU. Please read the detail at: AAT Deficiency Detection Center |
From Medscape-
Oct. 10, 2003 — Much has changed since the last revision of guidelines for diagnosis and management of alpha-1 antitrypsin (AAT) deficiency, according to a summary of latest recommendations published by the recently created AAT task force in the October issue of the American Journal of Respiratory and Critical Care Medicine.
"Since the first American Thoracic Society statement regarding the diagnosis and management of severe AAT deficiency in 1989...significant advances in understanding the cell and molecular biology of AAT and the diagnosis, natural history, and treatment of individuals with AAT deficiency have occurred," write James K. Stoller, MD, MS, from the Cleveland Clinic Foundation in Ohio, and colleagues from the Task Force. "AAT is frequently underrecognized or misdiagnosed by clinicians."
Features suggesting the diagnosis include emphysema with onset at age 45 years or younger; emphysema occurring in the absence of smoking, occupational dust exposure, or other recognized risk factors; or emphysema with prominent basilar hyperlucency. Other features that should raise the index of suspicion for AAT include otherwise unexplained liver disease, necrotizing panniculitis, antiproteinase 3-positive vasculitis, bronchiectasis without evident etiology, and family history of emphysema, bronchiectasis, liver disease, or panniculitis.
Based on the presence or absence of these features, the Task Force issued specific recommendations for diagnostic genetic testing in different clinical settings.
The authors review the prevalence of AAT deficiency in newborns estimated from several large population studies. This figure ranges from 1 in 1,600 in Sweden from 1972 to 1974 to 1 in 5,097 in Oregon. In the Swedish cohort, lung function remained normal during the first two decades of life, and most studies of the natural history concur that emphysema leading to early death usually begins during the third or fourth decade of life.
Pulmonary emphysema is the major cause of disability and death, whereas liver cirrhosis and carcinoma affect about 30% to 40% of those with AAT deficiency older than 50 years.
Liver transplantation is the only therapy currently available for advanced AAT-deficiency liver disease.
For obstructive lung disease associated with AAT deficiency, general management should include inhaled bronchodilators, preventive vaccination against influenza and pneumococcus, supplemental oxygen as needed, pulmonary rehabilitation for functional impairment, lung transplantation in selected patients, brief courses of systemic corticosteroids for acute exacerbations, and ventilatory support and early antibiotic therapy when needed.
Although lung volume reduction surgery may improve symptoms and functional status, the authors note that "well-studied, robust selection criteria for ideal candidates remain elusive and the duration of lung volume reduction surgery benefit appears shorter than in individuals with AAT-replete COPD."
The American Thoracic Society, the European Respiratory Society, and the Alpha-1 Foundation sponsored this task force.
Am J Respir Crit Care Med. 2003;168: 818-900
Clinical Context
ATT deficiency, a hereditary condition, has an estimated prevalence of 1 in 1,600 newborns according to European reports. Studies in Oregon, New York, and St. Louis, Missouri, have yielded a prevalence of 1 in 5,097; 1 in 3,694; and 1 in 2,857 respectively. The associated PI*ZZ deficiency is an autosomal codominant gene, with the risk of a homozygous offspring being 1 in 4 if both parents are carriers of the Z allele. If one parent is PI*ZZ and the other heterozygous, then all offspring are either carriers or affected. There is currently no effective prenatal diagnostic tool, and there is no cure.
Clinically, the disease tends to present with obstructive lung disease between age 32 and 41 years. It rarely presents before age 25 years. The most common misdiagnosis is asthma. With fewer than 60% of affected individuals developing severe airflow obstruction, the decision to screen asymptomatic individuals becomes ethically challenging when insurability and employment are considered. Smoking is the strongest predictor of disease severity and progression. The majority of deaths (72%) are due to emphysema. In a registry cohort of the National Heart, Lung, and Blood Institute (NHLBI), 30% of sufferers were medically disabled at 46 years and 68% reported at least one serious disabling respiratory condition within three years. Panacinar emphysema with basal predominance is seen at autopsy in all adults with severe ATT deficiency. Liver cirrhosis and carcinoma may affect up to 30% to 40% of patients with ATT deficiency older than 50 years.
This is the first consensus evidence-based guideline for ATT management since the 1989 (American Thoracic Society) and 1992 (Canadian Thoracic Society) standard statements. It is copublished by the American Thoracic Society, the European Respiratory Society, and the Alpha-1 Foundation. A multidisciplinary Task Force prepared the findings from 1997 to 2002. The current report includes updated research findings for the cell and molecular biology, diagnosis, natural history, and treatment of individuals at risk for, and those suffering from, ATT deficiency.
Study Highlights
- Diagnostic testing is recommended for patients with early-onset emphysema or in the absence of recognized risk factors for emphysema (smoking and occupational dust exposure), emphysema with prominent basilar hyperlucency, unexplained liver disease, necrotizing panniculitis, antiproteinase 3-positive vasculitis (C-ANCA), or family history of the above, and bronchiectasis without unexplained etiology.
- Predispositional testing is recommended for siblings of a patient with ATT deficiency, relatives of those with homozygous or heterozygous ATT deficiency, and those with a family history of unexplained chronic obstructive pulmonary disease (COPD) or liver disease.
- Population, prenatal, and postnatal screening are not generally recommended.
- The NHLBI cohort study suggests that the most common presenting symptoms are dypsnea on exertion (84%), wheezing (74%), cough (42%), and chronic bronchitis (8%-40%).
- Risk factors for disease presentation include male sex, age older than 50 years, active and passive smoking, kerosene heaters, employment in agriculture, and exposure to environmental respiratory irritants.
- Diagnostic testing includes both quantitative tests for plasma ATT levels and qualitative blood tests for identifying ATT genetic variants.
- Initial assessment should include a chest x-ray; computed tomography (CT), including thin slices for morphology and thick slices for densitometry; spirometry pre- and postbronchodilator (usually only moderately reversible); arterial blood gas analysis; lung volume measurement by body plethysmography or helium dilution; and single-breath CO-diffusion capacity. Ventilation-perfusion scan may be a useful tool.
- Disease progression should be monitored by rate of decline of forced expiratory volume in 1 second (FEV
Pearls for Practice
- Diagnostic testing indications for ATT deficiency remain unchanged. Population, prenatal, and postnatal screening for ATT deficiency is not currently recommended.
- New treatment options include augmentation therapy and double lung transplantation for severely affected patients. Lung volume reduction surgery is not recommended.
Legal Disclaimer: The material presented here does not reflect the views of Medscape or the companies providing unrestricted educational grants. These materials may discuss uses and dosages for therapeutic products that have not been approved by the United States Food and Drug Administration. A qualified health care professional should be consulted before using any therapeutic product discussed. All readers or continuing education participants should verify all information and data before treating patients or employing any therapies described in this educational activity.
Disclaimer: The Alpha 1 Advocacy Alliance supplies the reader with the above information and does not endorse or receive any goods or services for reporting this information. Reproduction of copyrighted material is at the discretion of the individual, and is made pursuant to the individual's election under 17 USC 107, the Fair Use exception to Federal copyright restrictions.
L king for More Information...
| Need Help Now! Click Here |
Return Home | Return to Education Resources | Return to Informational Resources
Telephone: 540-948-6777 or 1-866-FOR-A1AA (1-866-367-2122) Fax # 540-948-6763
Copyright © 2009 Alpha-1 Advocacy Alliance, All Rights Reserved
Home | Disclaimer | Privacy Policy