You may have heard the term alpha-1 antitrypsin deficiency before or perhaps you have had bloodwork done to detect presence of these genes. Recently more light has been shed on this genetic condition, so I’d like to let my readers know a bit about this. As with many subjects relating to our health and well-being, knowledge is power and it allows us to advocate for ourselves or our loved ones.
Alpha-1 antitrypsin deficiency (AAT deficiency) is an inherited condition that raises your risk for lung and liver disease. Alpha-1 antitrypsin (AAT) is a protein that protects the lungs. This protein is made in the liver. If the proteins are not the right shape, they get stuck in the liver cells and can’t reach the lungs. If they cannot reach the lungs, you are deficient in these proteins and vulnerable to lung damage and certain lung conditions such as COPD, emphysema or asthma. The signs and symptoms of the condition and the age at which they appear vary from person to person. Early symptoms include shortness of breath following mild activity, diminished exercise tolerance and wheezing. Other signs and symptoms can include unintentional weight loss, recurring respiratory infections, hacking cough and fatigue. Smoking or exposure to smoke accelerates the development of respiratory symptoms and damage to the lungs. Some people with AAT deficiency develop liver damage due to the formation of scar tissue. Signs of liver damage include a swollen abdomen and jaundice. Individuals with AAT deficiency are also at risk of developing liver cancer. Sometimes people will be tested for the AAT deficiency gene when there are abnormal liver function tests without another known cause. In rare cases, people with AAT deficiency develop a skin condition called panniculitis, which symptoms are hardened skin, painful lumps or patches. Prevalence varies by population, occurring most commonly in individuals with European ancestry. Many individuals with AAT deficiency are likely undiagnosed and some people are misdiagnosed with asthma.
Testing involves bloodwork for the faulty genes. As mentioned above, it is an inherited condition meaning you inherit two copies of the gene from each parent. The normal AAT genes are MM alleles. People with MM do not have AAT deficiency. Individuals with two copies of the Z allele (ZZ) have a high risk of developing lung disease and liver disease. You can also be a carrier, meaning you have one M allele and an abnormal S or Z allele, which also slightly increases the risk of impaired lung and liver function. Treatments for low levels of AAT involve augmentation therapy, which uses the protein derived from the blood of healthy donors to increase the amount of AAT in the lungs. It is given by IV, usually once a week.
As always, if you have specific concerns related to AAT deficiency or worrisome lung symptoms, speak with your doctor regarding testing. For more information, see www.alpha1.org or rarediseases.org.
Maria H. Drzaszcz, a Hammonton resident, is a registered nurse with 14 years critical care experience and is the proud mom of three young children.