Alpha-1-Antitrypsin Deficiency
Alpha-1 antitrypsin deficiency, sometimes referred to as A1AD, is a rare hereditary medical condition that causes an individual to be deficient in the protein Alpha-1 antitrypsin (AAT), which is crucial in protecting the body, particularly the lungs and liver, from naturally occurring enzymes used by the body to digest damaged cells and bacteria. The naturally occurring enzyme, neutrophil elastase, is fundamental to the health of the lungs and liver, because it fights degenerative toxins, but in a person with A1AD, it is detrimental to healthy cells as well.
Fortunately for most people, especially children of patients suffering from A1AD, the condition is quite rare. It is a recessive trait and therefore a person must inherit abnormal ATT genes from both parents in order to suffer from the symptoms of the disorder. This is not to say that A1AD should not be considered a real threat to a person's health and well-being, because the lungs and liver are truly fundamental to a person's life, but rather to reassure those who may be related to someone with A1AD that the chances are slim of anyone else being affected as well.
Because A1AD is a genetic disorder, medical evidence or symptoms may be present from birth, however not all patients will present any symptoms whatsoever. In the worst cases, Alpha-1 Antitrypsin Deficiency might cause emphysema due to the damage caused by the neutrophil elastase in the patient's lungs. Obviously, smoking or working in conditions of poor air quality will greatly exacerbate any natural tendency toward emphysema and should therefore be carefully avoided by a person with A1AD. In the worst cases, A1AD patients must receive lung transplants as the damage from the neutrophil elastase becomes too severe.
Another potentially fatal threat to the health of an Alpha-1 Antitrypsin deficient patient is cirrhosis of the liver. Again, the essentially helpful protein neutrophil elastase, while doing its job of clearing the liver of harmful toxins and bacteria, also causes irreparable damage to the healthy, useful liver cells in individuals with A1AD. Therefore, the food and beverage intake of a person with A1AD must be carefully monitored by a medical professional so as to minimize any self-inflicted liver damage. Again, sometimes the liver of the A1AD patient becomes so damaged by its own naturally occurring enzymes that the only solution is a liver transplant. Fortunately for these individuals, the new liver generally is not AAT deficient and the person is able to lead a healthy, normal life after the transplant.
Again, because every patient presents their A1AD symptoms differently, there will be variations in how each person experiences and manages their disorder. For those individuals who are fortunate enough not to suffer from emphysema or cirrhosis of the liver, some more minor indications may be present. These could include shortness of breath, either with or without physical exertion, chronic bronchitis, unintended and unexplained weight loss, regular wheezing, nausea, and general weakness.
If someone is suspected of having Alpha-1 antitrypsin deficiency, there are several methods by which a medical professional may diagnose this condition. First, a physical examination may reveal a barrel-shaped chest, and upon listening to the lungs, the doctor may perceive wheezing or labored breathing. At this point the doctor may order that certain blood tests be perform to determine the presence, or absence, of Alpha-1 antitrypsin in the patient's blood stream. CT scans and x-rays of the chest might also be performed, as well as an assessment of the arterial blood gases, and a pulmonary function test.
Of course, a thorough analysis of the overall health of the patient should also be performed. Indicators of A1AD could include early onset emphysema, such as before the age of 45, particularly if the patient has never been a smoker or worked in conditions with poor or toxic air quality. The presence of hepatitis or liver disease in a person who has always been careful about his or her health and diet would also indicate to a doctor that further testing to establish the presence of AAT in a person should be executed.
Although rare, Alpha-1 antitrypsin deficiency can be a very damaging and difficult disorder to manage. And because of its rarity, diagnosis is sometimes challenging and time consuming. Any person who suspects the absence of AAT due to the presence of the above outlined symptoms should immediately seek the advice of a medical professional and determine the best course of action should they eventually be diagnosed with A1AD.
