People who suffer from it have very low amounts of the protein Alpha 1 Antitrypsin.
This protein is produced by our body, mainly in the liver, from there it passes into the blood and is distributed throughout the body. Its main function is to protect the lungs and other organs from some substances that can injure them, such as tobacco smoke, or toxic substances that are produced in infections.
Where is the protein made?
This protein is produced by our body, mainly in the liver, from there it passes into the blood and is distributed throughout the body.
Its main function is to protect the lungs and other organs from some substances that can injure them, such as tobacco smoke, or toxic substances that are produced in infections.
History of Alpha 1 Antitrypsin Deficiency
Alpha-1 antitrypsin deficiency is an inherited disorder that can cause lung disease and liver disease.
Variants of the gene
The information necessary for the liver to produce this protein is found in a gene that is located on one of our pairs of chromosomes (we inherit one from our father and another from our mother), which is chromosome 14.
There are many variants of this gene, which are named with a capital letter.
The most common variant is M, which produces a protein that functions normally and in adequate amounts.
A person without deficit will have an M variant on each chromosome (it will be MM).
However, some of these genetic variants cause the protein not to be produced (null variants) or that it has some defect and does not work well (Z, S and other variants).
The anomalous variants give rise to the appearance of the deficit and its severity will depend on the type of genetic defect:
– A person with a normal gene and a deficient one (eg: MZ), produces a lower amount of protein than normal, but that may be enough to not put their health at risk. These people are called “carriers.”
– A person with both deficient genes (ZZ) will have a very low amount of protein and that this fact will increase the risk of developing diseases.
Signos y Síntomas
People with alpha-1 antitrypsin deficiency usually develop the first signs and symptoms of lung disease between the ages of 20 and 50.
The first symptoms are shortness of breath after mild activity, reduced ability to exercise, and wheezing.
Other signs and symptoms can include unintentional weight loss, recurrent respiratory infections, fatigue, and rapid heartbeat when standing up.
Affected people often develop emphysema, which is a lung disease caused by damage to the small air sacs in the lungs (alveoli). Characteristic features of emphysema include shortness of breath, a dry cough, and a barrel-shaped chest.
Smoking or being exposed to tobacco smoke accelerates the onset of emphysema symptoms and damage to the lungs.
In rare cases, people with alpha-1 antitrypsin deficiency develop a skin condition called panniculitis, which is characterized by hardened skin with painful lumps or patches. Panniculitis varies in severity and can occur at any age.
AATD in children
About 10 percent of babies with alpha-1 antitrypsin deficiency develop liver disease, which often causes yellowing of the skin and whites of the eyes (jaundice).
About 15 percent of adults with alpha-1 antitrypsin deficiency develop liver damage (cirrhosis) due to the formation of scar tissue in the liver.
Signs of cirrhosis include a swollen abdomen, swollen feet or legs, and jaundice.
People with alpha-1 antitrypsin deficiency are also at risk of developing a type of liver cancer called hepatocellular carcinoma.