[Update: Alpha-1-antitrypsin deficiency. Summary of a scientific symposium at the conference of the Swiss Pneumologic Society on April 16th, 2009].
The time delay between the start of respiratory symptoms and the correct diagnosis of alpha-1-antitrypsin (AAT) deficiency is often 6 to 8 years. Most patients are misdiagnosed as having COPD or asthma. Recent estimates suggest that only 15 % of patients have already been identified. The PiZZ genotype leads to severely decreased AAT serum concentrations, and is associated with a high risk of pulmonary emphysema. Disease manifestation is earlier in smokers than in non-smokers. Since cigarette smoke is able to reduce AAT activity by a factor of 2000, it can accelerate the progression of emphysema. Patients are therefore recommended to stop smoking. The EXACTLE study assessed the development of emphysema by means of CT densitometry in 77 patients with severe AAT deficiency over a period of 2.5 years. CT densitometry was able to detect the progressive loss of lung tissue, and it was found to be more sensitive than pulmonary function or quality of life variables. With weekly intravenous supplementation of alpha-1-antitrypsin, emphysema progressed more slowly compared to placebo (albumin) infusions. In Germany, of about 900 patients are currently receiving supplementation therapy with human AAT. The treatment is well tolerated and well accepted by the patients. Symptomatic treatment consists of long- and short-acting beta-agonists, anticholinergic bronchodilators, and inhaled corticosteroids. Alpha-1 centres provide particular expertise, and it is recommended that every patient should be seen in one of these specialised outpatient clinics.
Vogelmeier
C
C
Klinik für Innere Medizin mit Schwerpunkt Pneumologie, Universitätsklinikum Giessen und Marburg, Standort Marburg, Deutschland.
Hamacher
J
J
Steveling
H
H
Steinkamp
G
G
D002986:Clinical Trials as Topic / Q000639:trends; D006801:Humans; D015272:Pulmonary Medicine / Q000639:trends*; D019896:alpha 1-Antitrypsin Deficiency / Q000175:diagnosis* / Q000235:genetics / Q000628:therapy*