II. Epidemiology
- Age of onset: 20 to 50 years
III. 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
IV. 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
V. Labs
- Serum alpha-1 antitrypsin
- Deficiency: Level <1.5 g/L (<20 umol/L)
VI. 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)
VII. 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)
VIII. References
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| Definition (MSH) | Deficiency of the protease inhibitor ALPHA 1-ANTITRYPSIN that manifests primarily as PULMONARY EMPHYSEMA and LIVER CIRRHOSIS. |
| Definition (MEDLINEPLUS) |
Alpha-1 antitrypsin deficiency (AAT deficiency) is an inherited condition that raises your risk for lung and liver disease. Alpha-1 antitrypsin (AAT) is a protein that protects the lungs. The liver makes it. If the AAT proteins aren't the right shape, they get stuck in the liver cells and can't reach the lungs. Symptoms of AAT deficiency include
Some people have no symptoms and do not develop complications. Blood tests and genetic tests can tell if you have it. If your lungs are affected, you may also have lung tests. Treatments include medicines, pulmonary rehab, and extra oxygen, if needed. Severe cases may need a lung transplant. Not smoking can prevent or delay lung symptoms. NIH: National Heart, Lung, and Blood Institute |
| Definition (NCI) | A genetic disorder characterized by decreased alpha-1 antitrypsin activity in the lungs and blood and deposition of alpha-1 antitrypsin protein in the hepatocytes. These abnormalities result from defective production of alpha-1 antitrypsin and lead to the development of emphysema, cirrhosis, and liver failure. |
| Definition (CSP) | autosomal recessive trait leading to destruction of lung tissue by neutrophil elastase and eventual emphysema; second only to cystic fibrosis as most common lethal genetic disorder among Caucasians of northern European ancestry. |
| Concepts | Disease or Syndrome (T047) |
| MSH | D019896 |
| ICD9 | 273.4 |
| ICD10 | E88.01 |
| SnomedCT | 30188007, 154771007 |
| English | Deficiencies, alpha 1-Antitrypsin, Deficiency, alpha 1-Antitrypsin, alpha 1 Antitrypsin Deficiency, alpha 1 antitrypsin deficiency, alpha 1-Antitrypsin Deficiencies, ALPHA ANTITRYPSIN DEFICIENCY 01, ALPHA 1 ANTITRYPSIN DEFIC, alpha 1-antitrypsin deficiency, alpha 1-antitrypsin deficiency (diagnosis), Alpha-1-antitrypsin deficiency (disorder), alpha-1-Antitrypsin deficiency (disorder), alpha-1-Antitrypsin deficiency, Alpha-1-antitrypsin deficiency, Alpha-1 anti-trypsin deficiency, Alpha-1 proteinase inhibitor deficiency, Alpha-1-antitrypsin def, A-1ATD, A1AD, AAT deficiency, alpha 1-Antitrypsin Deficiency [Disease/Finding], alpha-1 antitrypsin deficiency, alpha-1-antitrypsin deficiency, 1 alpha antitrypsin deficiency, alpha-1 anti-trypsin deficiency, ALPHA-1-ANTITRYPSIN DEFICIENCY, AATD, Alpha-1 Antitrypsin Deficiency, alpha 1-Antitrypsin Deficiency, Alpha 1-antitrypsin deficiency, Alpha-1-Antitrypsin Deficiency, alpha-1-Proteinase inhibitor deficiency, deficiency; alpha-1-antitrypsin, alpha-1-antitrypsin; deficiency, Deficiency;A1 antitrypsin |
| Italian | Deficit di alfa-1 antitripsina, Deficit dell'inibitore della alfa-1 proteinasi, Deficit di alfa-1-antitripsina |
| Dutch | alfa-1-proteïnase-inhibitordeficiëntie, alfa-1-antitrypsine; deficiëntie, deficiëntie; alfa-1-antitrypsine, alfa-1-antitrypsinedeficiëntie, Alfa-1-antitrypsinedeficiëntie, Antitrypsinedeficiëntie, alfa-1-, Deficiëntie, alfa-1-antitrypsine- |
| French | Carence en inhibiteurs de la protéinase alpha-1, Déficit en alpha 1-antitrypsine, Déficit en alpha-1-antitrypsine, Déficit en alpha-1 antitrypsine |
| German | Alpha-1 Proteinase-Inhibitormangel, ALPHA ANTITRYPSINMANGEL 01, Alpha-1 Antitrypsinmangel, Alpha-1-Antitrypsinmangel |
| Portuguese | Carência de inibidor de alfa-1-proteinase, Deficiência de 1-Antitripsina alfa, Deficiência de alfa-1-antitripsina, Deficiência de alfa 1-Antitripsina |
| Spanish | Déficit del inhibidor de la alfa-1 proteínasa, deficiencia de alfa-1-antitripsina, deficiencia de inhibidor de alfa - 1 - proteinasa, deficiencia de alfa - 1 - antitripsina (trastorno), deficiencia de alfa-1-antitripsina (trastorno), Deficiencia de alfa 1-Antitripsina, deficiencia de alfa - 1 - antitripsina, Déficit de alfa-1 anti-tripsina |
| Japanese | α１蛋白分解酵素阻害欠損症, α１抗トリプシン欠損症, ｱﾙﾌｧ1ﾀﾝﾊﾟｸﾌﾞﾝｶｲｺｳｿｿｶﾞｲｹｯｿﾝｼｮｳ, ｱﾙﾌｧ1ｺｳﾄﾘﾌﾟｼﾝｹｯｿﾝｼｮｳ, アルファ1-アンチトリプシン欠損症, α1-アンチトリプシン欠損症 |
| Swedish | Alfa 1-antitrypsinbrist |
| Finnish | Alfa-1-antitrypsiinin puutos |
| Russian | AL'FA 1-ANTITRIPSINOVAIA NEDOSTATOCHNOST', АЛЬФА 1-АНТИТРИПСИНОВАЯ НЕДОСТАТОЧНОСТЬ |
| Czech | Deficit alfa-1-antitrypsinu, Deficit inhibitoru alfa-1-proteinázy, alfa-1-antitrypsin - nedostatečnost, deficit alfa-1 antitrypsinu, deficit alfa-1- antitrypsinu, deficit α1-antitrypsinu, deficit alfa1-antitrypsinu |
| Polish | Niedobór alfa-1-antytrypsyny |
| Hungarian | Alpha-1 antitrypsin hiány, Alpha-1 proteinase inhibitor hiány |
| Norwegian | Alfa-1-antitrypsinmangel |
