User:Mr. Ibrahem/Alpha-1 antitrypsin deficiency
| Alpha-1 antitrypsin deficiency | |
|---|---|
| Other names | α1-antitrypsin deficiency |
 | |
| Structure of Alpha-1 antitrypsin | |
| Specialty | Pulmonology, medical genetics |
| Symptoms | Shortness of breath, wheezing, yellowish skin[1] |
| Complications | COPD, cirrhosis, neonatal jaundice, panniculitis[1] |
| Usual onset | 20 to 50 years old[1] |
| Causes | Mutation in the SERPINA1 gene[1] |
| Diagnostic method | Based on symptoms, blood tests, genetic tests[2] |
| Differential diagnosis | Asthma[1] |
| Treatment | Medications, lung transplant, liver transplant[2] |
| Medication | Bronchodilators, inhaled steroids, antibiotics, intravenous infusions of A1AT protein[2] |
| Prognosis | Life expectancy ~50 years (smokers), nearly normal (non smokers)[3] |
| Frequency | 1 in 2,500 (Europeans)[1] |
Alpha-1 antitrypsin deficiency (A1AD or AATD) is a genetic disorder that may result in lung disease or liver disease.[1] Onset of lung problems is typically between 20 and 50 years old.[1] This may result in shortness of breath, wheezing, or an increased risk of lung infections.[1][2] Complications may include chronic obstructive pulmonary disease (COPD), cirrhosis, neonatal jaundice, or panniculitis.[1]
A1AD is due to a mutation in the SERPINA1 gene that results in not enough alpha-1 antitrypsin (A1AT).[1] Risk factors for lung disease include cigarette smoking and environmental dust.[1] The underlying mechanism involves unblocked neutrophil elastase and buildup of abnormal A1AT in the liver.[1] It is autosomal co-dominant, meaning that one defective allele tends to result in milder disease than two defective alleles.[1] The diagnosis is suspected based on symptoms and confirmed by blood tests or genetic tests.[2]
Treatment of lung disease may include bronchodilators, inhaled steroids, and, when infections occur, antibiotics.[2] Intravenous infusions of the A1AT protein or in severe disease lung transplantation may also be recommended.[2] In those with severe liver disease liver transplantation may be an option.[2][4] Avoiding smoking is recommended.[2] Vaccination for influenza, pneumococcus, and hepatitis is also recommended.[2] Life expectancy among those who smoke is 50 years old while among those who do not smoke it is almost normal.[3]
The condition affects about 1 in 2,500 people of European descent.[1] Severe deficiency occurs in about 1 in 5,000.[5] In Asians it is uncommon.[1] About 3% of people with COPD are believed to have the condition.[5] Alpha-1 antitrypsin deficiency was first described in the 1960s.[6]
References[edit]
- ^ a b c d e f g h i j k l m n o p "alpha-1 antitrypsin deficiency". Genetics Home Reference. January 2013. Retrieved 12 December 2017.
- ^ a b c d e f g h i j "Alpha-1 antitrypsin deficiency". GARD. 2016. Retrieved 12 December 2017.
- ^ a b Stradling, John; Stanton, Andrew; Rahman, Najib M.; Nickol, Annabel H.; Davies, Helen E. (2010). Oxford Case Histories in Respiratory Medicine. OUP Oxford. p. 129. ISBN 9780199556373.
- ^ Clark, VC (May 2017). "Liver Transplantation in Alpha-1 Antitrypsin Deficiency". Clinics in Liver Disease. 21 (2): 355–365. doi:10.1016/j.cld.2016.12.008. PMID 28364818.
- ^ a b Marciniuk, DD; Hernandez, P; Balter, M; Bourbeau, J; Chapman, KR; Ford, GT; Lauzon, JL; Maltais, F; O'Donnell, DE; Goodridge, D; Strange, C; Cave, AJ; Curren, K; Muthuri, S; Canadian Thoracic Society COPD Clinical Assembly Alpha-1 Antitrypsin Deficiency Expert Working, Group (2012). "Alpha-1 antitrypsin deficiency targeted testing and augmentation therapy: a Canadian Thoracic Society clinical practice guideline". Canadian Respiratory Journal. 19 (2): 109–16. doi:10.1155/2012/920918. PMC 3373286. PMID 22536580.
{{cite journal}}: CS1 maint: numeric names: authors list (link) CS1 maint: unflagged free DOI (link) - ^ Köhnlein, Thomas; Welte, T. (2007). Alpha-1 Antitrypsin Deficiency: Clinical Aspects and Management. UNI-MED Verlag AG. p. 16. ISBN 9781848151154.