COPD
Alpha-1-Antitrypsin Deficiency
search
Alpha-1-Antitrypsin Deficiency
See Also
COPD
Emphysema
Chronic Bronchitis
COPD Management
Acute Exacerbation of Chronic Bronchitis
Antibiotic Use in COPD Exacerbation
COPD Exacerbation Prevention
COPD Action Plan
Epidemiology
Age of onset: 20 to 50 years
Pathophysiology
Serpina1 gene defect (
Chromosome
14q31-32.3) results in Alpha-1 antitrypsin deficiency
Alpha-1 antitrypsin protects against the
Leukocyte
enzyme
Neutrophil
elastase
When Alpha-1 antitrypsin is deficient, neutophil elastase results in tissue damage
Lung
alveolar damage (most common)
Liver
injury (less common)
Skin Injury
(rare)
Presentations
Clinical manifestations that warrant screening
Emphysema
onset before age 45 years
Emphysema
without
Tobacco
exposure or occupational exposure
Emphysema
predominantly affecting the lower lung lobes
Idiopathic Chronic Hepatitis
Family History
of
COPD
or
Bronchiectasis
at a young age or without risk factors
Labs
Serum alpha-1 antitrypsin
Deficiency: Level <1.5 g/L (<20 umol/L)
Management
See
COPD Management
Eliminate exacerbating exposures
Avoid
Tobacco
exposure
Avoid occupational exposures of airborne toxins
Substitution therapy with human alpha-1 antitrypsin
Weekly injection of alpha-1-antitrypsin (60 mg/kg) from pooled human plasma
Indicated in non-smokers, progressive
COPD
, and serum level <0.8 g/L (<11 umol/L)
Complications
Chronic Obstructive Pulmonary Disease
(
Emphysema
)
Neonatal Hepatitis
Chronic Hepatitis (adults)
Cirrhosis
(and associated risk of
Hepatocellular Carcinoma
)
Granulomatosis with Polyangiitis
(previously known as
Wegener's Granulomatosis
, rare)
Skin Necrotizing
Panniculitis
(rare)
References
Kohnlein (2008) Am J Med 121:3-9 [PubMed]
Type your search phrase here