Thursday, July 21, 2016

Clinical Practice Guidelines 2016: The Diagnosis and Management of Alpha-1 Antitrypsin Deficiency in the Adult (free full text)

Dear Respiratory friends we are happy to present you Clinical Practice Guidelines 2016: The Diagnosis and Management of Alpha-1 Antitrypsin Deficiency in the Adult published today in Journal of the COPD Foundation!

Summary of Recommendations

Testing for Alpha-1 Antitrypsin Deficiency (AATD):

· All individuals with COPD regardless of age or ethnicity should be tested for AATD.

· All individuals with unexplained chronic liver disease should be tested for AATD.

· All individuals with necrotizing panniculitis, granulomatosis with polyangiitis, or unexplained bronchiectasis should be tested for AATD.

· Parents, siblings, and children, as well as extended family of individuals identified with an abnormal gene for AAT, should be provided genetic counseling and offered testing for AATD (see guideline document for special considerations about testing minors).

· For family testing after a proband is identified, AAT level testing alone is not recommended because it does not fully characterize disease risk from AATD.

· For diagnostic testing of symptomatic individuals, we recommend genotyping for at least the S and Z alleles. Advanced or confirmatory testing should include Pi-typing, AAT level testing, and/or expanded genotyping.

Pulmonary function testing in those with AATD:

· Initial evaluation with complete lung function testing is recommended.

· Annual follow-up of adults with at least a spirometry test is recommended.

Computed Tomography (CT) scan of the chest in the evaluation in those with AATD:

· In newly diagnosed patients who are symptomatic and/or have abnormal pulmonary function testing, a baseline CT scan of the chest is recommended.

· Serial chest CT scanning to monitor progression of disease is not recommended.

Monitoring for liver disease in those with AATD:

· Monitoring for liver disease at annual intervals (or more frequently as indicated by clinical circumstances), with physical examination including focused exam for signs of liver disease, liver ultrasound, and laboratory monitoring of AST, ALT, GGT, albumin, bilirubin, INR, and platelets is recommended.

Management of lung disease in those with AATD:

· Every effort should be made to prevent exposure to tobacco smoke and facilitate cessation in those who are smoking.

· Lung volume reduction surgery is not recommended for individuals with COPD related to AATD.

Intravenous augmentation therapy in those with AATD is recommended for:

· Individuals with an FEV1 less than or equal to 65% predicted.

o    For those with lung disease related to AATD and an FEV1 greater than 65%, we recommend discussion with each individual regarding the potential benefits of reducing lung function decline with consideration of the cost of therapy and lack of evidence for such benefit.

·         Individuals with necrotizing panniculitis.

Intravenous augmentation therapy is not recommended for:

· Individuals with the MZ genotype of AATD.

· Individuals with lung disease due to AATD who continue to smoke.

· Individuals with AATD and emphysema or bronchiectasis who do not have airflow obstruction.

· The treatment of liver disease due to AATD.

· Individuals who have undergone liver transplantation.

Additional recommendations regarding dosing of intravenous augmentation therapy:

· Weekly doses higher than the current FDA-approved dose are not recommended.

· Monitoring of trough AAT blood levels to evaluate the adequacy of AAT augmentation dosing is not recommended.

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