“ A disease caused by reduced or abnormal production in the body of the enzyme inhibitor alpha-1 antitrypsin. Body tissues and blood normally contain powerful protease enzymes responsible for attacking foreign substances within the body that may be harmful, for example: tobacco smoke. „
Alpha-1 Antitrypsin Defficiency (A1AT), is a genetic disorder of the lungs and liver of which many people are completely ignorant. We've all heard of Cystic Fibrosis, havent we? Well, A1AT is at least as common as that in the population, if not more prevalent. Since members of my family have been identified as both carrying the defective gene and having the full blown disorder, Im going to enlighten everyone of the potential risks.
~What is Alpha-1?~
Alpha-1 Antitrypsin Defficiency is an initially silent and innocuous chemical defect of the lungs and the liver. It is only over time that its devasting physical effects are felt, by which time the damage is often extensive.
A1AT is an inherited disorder manefesting as the inability of the liver to produce the enzyme antitrypsin. This enzyme serves to protect the lungs from the enzyme elastase. Elastase is a powerful protease enzyme produced by inflammatory cells to attack foreign substances in the body. Any pollutants that come into contact with the lung tissue, for example cigarette smoke or airborne inpurities, are combatted by this enzyme. However, the blood serum levels of elasase must be regulated by A1AT, since it can, in unchecked concentrations, attack the lung and liver tissues. Elastase breaks down elastin, the protein which keeps the lungs supple and elastic- without A1AT to control levels of elastase, the lungs are repeatedly attacked and rendered scarred. This ultimately results in the development of *Emphysema*and/or *COPD* (Chronic Obstructive Pulmonary Disease.
~What Gene is Responsible for Alpha-1 Antitrypsin Defficiency?~
It is caused by a defective gene on chromosome 14. The full blown disorder is present when this defective gene is inherited from both parents. Both my mother and father are carriers, and I am one of four siblings. One of us has the disease, the other 3 are carriers.
~What is the Difference between a Carrier and Someone with A1ATD?~
Someone with A1AT Defficiency will produce next to no antitrypsin in their liver, and thus are highly suceptible to lung and liver damage. These people are strongly advised to avoid smoking and drinking, as these substances are foreign to the body and 'excite' the inflammatory cells into action. Such individuals would require monitoring and treatment. Some medical communities are looking into the possibility of transfusing A1AT into the body to replace the absent enzyme. Gene therapy may also be a way forward. If you already have extensive lung disease, then lung transplants are possible, but obviously the new organs can degenerate if you arent careful as your genes still dont encode for A1AT
Carriers are affected to varying degrees. They dont make as much A1AT as a normal person, about 60-80% of that of a normal individual (normal people have two effective genes, carriers have one defective and one normal gene), and should therefore be careful not to smoke and drink to excess. They may be slightly more at risk of lung disease and cirrosis of the liver. Generally speaking, carriers dont need treatment- they just need to be vigilant.
~Who is at Risk?~
This defective gene is one of the commonest in the Caucasion population. It is particularly prevalent in Northern Europe, Great Britain, and Scandanavia.
~How Does the Disease Develop?~
The signs of emphysema usually appear, in smokers, at the ages of 30-40 years; in non-smokers, usually 15-20 years later.
Problems with the liver are sometimes seen in newborns, and vigilance is necessary. Those people who are unlucky enough to develop liver function problems may see the signs in adolesence. The effects of A1AT deffiency on the liver, and the course of the disease is less understood than the mechanisms involving the lungs.
~What is Emphysema?~
Emphysema is a lung disease whereby the aveoli (air sacs) of the lungs, where gaseous exchange takes place (oxygen diffuses into the blood and carbon dioxide passes out), collapse. This creates larger air spaces in the alveoli and therefore a reduced surace area for gaseous exchange to take place. The efficiency of lung respiration is depleted and symptoms of breathlessness, fatigue, exhaustion upon physical exersion, bluish tinge to lips and complexion, recurrent chest infections, and possbile heart failure become evident.
~What Can I do With this Information?~
If you are a young smoker (or non-smoker) who has repeated bronchitis and chest infections, then it might be worth requesting a genetic test. Be prepared for the GP to get you on a programme to quit smoking first though!
The genetic test is straightforward, involving a simple blood test. The levels of A1AT can also be tested to give an idea if yours is within the normal range. If you are found to have a defective gene, as a carrier, or indeed are seen to have the disorder fullblown, then your immediate family may require testing too. I know that I can a carrier with the lower end of the normal range of A1AT in my blood, so I am careful not to smoke or drink to excess. I get back pain if I am in a smoky environment and feel physically ill- polluted areas make me feel lethargic aswell.
So, if you have any concerns regarding your health- your lung capacity, breathlessness, wheezing, excessive tiredness, an undue frequency of chest infections, then if you're having a blood test just mention to the GP 'Alpha-1 Antitrypsin Defficiency' to be tested. You'll sound clever, and you may even prevent problems in the long-term. Trust me, a life being a young adult on oxygen and steriods is no laughing matter. Best of health everyone.