Alpha-1 Antitrypsin Deficiency (AATD) is an uncommon – but not rare – genetic disease that seriously affects the lungs, occurring in about one of every 3,000 people.
Alpha-1 Antitrypsin (AAT) is an enzyme that protects our lungs from protein damage and neutrophil elastase. Neutrophils are one of the white blood cells in our blood stream that migrate into our lungs to help kill microbial viruses and bacteria. In the normal state of affairs the neutrophils release elastase and other chemicals that kill the microbes – which then need to be “mopped up,” so as not to hurt lung tissue.
This is the job of AAT; but if a person is deficient in AAT, the clean-up doesn’t occur, which leads to gradual chronic damage to the lungs. Neutrophils also respond to counter cigarette smoke and pollution.
The most common indicator of disease is onset of emphysema in younger adults. It can also play a role in COPD (Chronic Obstructive Pulmonary Disease), and some forms of asthma. In asthma that is difficult to control or poorly responsive to the usual therapies, AATD should be considered. It can also be a cause of bronchiecstasis (a difficult condition in which the airways slowly lose their ability to clear out mucus, leading to chronic damage and serious lung infections.)
The severity of the AAT deficiency and, thus the disease, can vary depending on inherited alternative forms of a gene. The level of AAT ranges from totally absent, to severely reduced to moderately reduced.
Patients whose level of AATD is below 11 micromoles can benefit from intravenous replacement therapy of the Alpha-1 enzyme.
A study outlining the use of weekly azithromycin for COPD patients with frequent exacerbations was published recently in the world’s leading general medical journal, Lancet. “Frequent” was defined as three or more episodes in a year of these episodes of sustained worsening of these patients’ conditions.
Several cogent reasons warrant attempting to prevent these exacerbations. First and foremost, they make the patient sick and can lead to hospitalization, and sometimes to death. Also, each exacerbation can worsen the overall degree of lung impairment, kind of a racheting down in lung function. The patients in the year-long Lancet study were treated with 500 mg. a day of azithromycin for the first three days of each week.
This particular drug was chosen because it has immunomodulatory properties. That is, it works not only as an antimicrobial, but also as an anti-inflammatory. It is concentrated 200 times in the white blood cells, which go to the bronchial tissues. It also has a long half-life of about 70 hours after a dose.
Patients in the trial had 58 percent fewer exacerbations. Additionally, this benefit lasted for more than six months after the drug was stopped.
Inhaled corticosteroids are an important therapy for a variety of lung conditions, especially Chronic Obstructive Pulmonary Disease (COPD) and asthma.
It has been known for several years that inhaled steroids increase the risk of pneumonia in patients with COPD. Whether this is also true in asthmatics has not been studied.
A recent research paper in the Journal of Respiratory and Critical Care Medicine indicates that inhaled steroids do not raise the risk for pneumonia in asthmatics. In the cited clinical trial involving 15,000 children and adults with asthma there was no increased risk for pneumonia.
A second study looked at low-dose versus higher-dose inhaled steroids in asthmatics and there was no increase in risk in the high-dose group.