Alpha-1 antitrypsin deficiency, or AATD, is an inherited disorder that affects the liver and the lungs. For the deficiency to be present, two copies of the faulty gene must be inherited from each parent. Alpha-1 antitrypsin is produced in the liver and helps to protect the lungs by inhibiting proteinase enzymes. These are secreted by neutrophils and are a biological response to infections and irritants of the lungs.
Those with this deficiency are at greater risk of developing liver cirrhosis and chronic obstructive pulmonary lung disease, which is also known as COPD. Both can lead to death without medical intervention, either from liver dysfunction and the many health-related problems such as poor blood clotting and fluid build-up around the body or from breathing difficulties and low oxygen levels associated with COPD.
The main symptoms include wheezing and breathlessness. These can be exacerbated by smoking. Because these symptoms are similar to asthma, those with Alpha-1 Antitrypsin deficiency-related COPD can often be misdiagnosed as asthma sufferers instead.
AATD is a common cause of liver disease in children, and because liver disease is rare in the young, it is far easier to suspect the presence of AATD in these individuals.
However, there are more causes of liver disease in adults. Therefore, other conditions can be suspected instead, causing a delay in the diagnosis and treatment of AATD.
The symptoms of liver disease caused by AATD include jaundice, pale stools, problems with blood clotting, and eventual liver failure. Liver cirrhosis can eventually also lead to liver cancer.
AAT is needed to break down proteinase enzymes which are naturally produced by the body in response to lung irritation and lung infections. There are different genetic variants of this condition, and the most serious are S and Z. S produces moderate levels of Alpha-1 antitrypsin, while Z produces very little, leading to the development of far more health problems.
However, the severity of this deficiency depends on the combination of genes inherited. SS gene carriers have low levels of Alpha-1 antitrypsin, but the levels are still high enough to prevent liver and lung disease.
A combination of SZ or ZZ increases the risk markedly of developing early onset COPD and also liver disease because AAT levels are that much lower in these individuals. So, the risk factors are highly dependent on what gene combination has been passed down by a mother and father.
Smoking and poor diet can aid the development and increase the risk of developing both COPD and liver disease in adulthood, especially in those who have inherited the gene combination most likely to decrease levels of AAT in the body.
Diagnosis is mostly from a physical examination and studying the symptoms present. Blood tests can confirm a diagnosis if AAT levels are low. Blood testing can also confirm the presence of any liver disease.
There is no cure for this deficiency. Instead, treatment focuses on improving the quality of life of those with AATD by treating the symptoms associated with liver disease and COPD.
Argumentation therapy can also slow the progression of the damage caused in the lungs by taking ATT proteins from blood donors and transfusing them into AATD sufferers. This treatment can help raise the levels of AAT in the body.
Prevention of this condition relies on gene testing potential parents to discover whether they are carriers of the faulty genes that lead to the development of this condition.