Alpha-1 Antitrypsin Deficiency: Pathogenesis, Clinical Presentation, Diagnosis, and Treatment - 15/08/11
, Tobias Welte, MD, PhD
Requests for reprints should be addressed to Thomas Köhnlein, MD, Hannover Medical School, Department of Respiratory Medicine, Carl-Neuberg-Strasse 1, D-30625 Hannover, Germany.Abstract |
Alpha-1 antitrypsin deficiency is an inherited disease affecting the lung and liver. The typical pulmonary manifestation is chronic obstructive pulmonary disease and emphysema. Severe chronic obstructive pulmonary disease may occur in young adulthood, and terminal respiratory insufficiency causes premature death in many patients. In the liver, alpha-1 antitrypsin deficiency may manifest as benign neonatal hepatitis syndrome; a small percentage of adults develop liver fibrosis, with progression to cirrhosis and hepatocellular carcinoma. The alpha-1 antitrypsin molecule is a serine protease inhibitor that is predominantly produced in the liver. Its most important physiologic functions are the protection of pulmonary tissue from aggressive proteolytic enzymes and regulation of pulmonary immune processes. Diagnosis of alpha-1 antitrypsin deficiency can be established by measurement of the serum alpha-1 antitrypsin concentration or by genetic analysis. Treatment is similar to the usual treatment for patients with chronic obstructive pulmonary disease. A further option is substitution therapy with human alpha-1 antitrypsin. The targets of treatment are the prevention of the accelerated decline of pulmonary function, reduction of lung infections, and improvements in exercise capacity.
Le texte complet de cet article est disponible en PDF.Keywords : Alpha-1 antitrypsin deficiency, Alpha-1 protease inhibitor deficiency, Antiprotease, Chronic obstructive pulmonary disease, Liver cirrhosis, Lung emphysema, Neonatal hepatitis syndrome
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Vol 121 - N° 1
P. 3-9 - janvier 2008 Retour au numéro
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