Alpha-1 Antitrypsin Deficiency is a hereditary disorder which is most common amongst those of European decent and occurs in around one in 2500 people. It’s not a common disorder and as such it’s not diagnosed often. Due to its unfamiliar nature and the fact that its initial symptoms can appear similar to asthma, it’s often misdiagnosed which can lead to severe liver and lung damage as the actual condition goes untreated.
Though asthma and alpha-1 may present in a similar way they couldn’t be more different, whereas asthma is an inflammatory reaction to the environment, alpha-1 is a genetic disorder which is actually centred on the liver. Alpha-1 Antitrypsin is a protein which the liver produces and then releases into the blood stream; it travels to the lungs where it prevents an enzyme from causing tissue breakdown. In suffers of the alpha-1 disorder this protein is never released and it sits in the liver, eventually causing liver failure and the tissue breakdown in the lungs. Liver failure isn’t always immediately visible which is why it can commonly be ignored or unobserved at a diagnosis which leads to the misdiagnoses of asthma.
Scientists have recently discovered a mutation in the gene which causes the genetic condition in the first place. This is exciting news for sufferers as it opens the potential for the development of new drugs and treatments for the condition and a better quality of life overall. However this could still be a long way off and as of yet there’ve been no breakthroughs beyond this initial discovery.
Time will tell and we’ll be right here to let you know as and when a breakthrough is made, for all your Alpha-1 sufferers out there let’s hope it’s soon!
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