Alpha 1 Antitrypsin Deficiency

The alpha 1-antitrypsin is a kind of protein that is also known as “protease inhibitor”. This protein forms in the liver and its main function is to protect the liver and lung. The alpha 1 antitrypsin deficiency is among the common disorders that happen due to the faulty creation of alpha 1 antitrypsin also termed as A1AT.

This kind of disorder leads to reduced A1TA activity in lungs and blood and also too much a1at protein gets deposited in the liver cells. This disorder consists of many degrees and forms based of whether the one who is suffering from the deficiency has a single or two replicas of the gene that has been affected.

Acute antitrypsin deficiency can lead to many problems such as liver disease. These problems can be treated by avoiding damaging inhalants and by many other ways. There are many symptoms of alpha 1 antitrypsin deficiency, which include wheezing, rales, rhonchi, breathing troubles etc.

The alpha 1 antitrypsin deficiency can also lead to impaired functioning of the lever. Sometimes liver transplantation has to done for treating such deficiencies. Liver is the place where A1AT is produced and protect the lungs from an enzyme called ‘neutrophil elastase’ that can interrupt with the connective tissues. 1.5 to 3.5 g/l is the usual blood level of alpha-1 antitrypsin.

Most of the time a patient remains undiagnosed from the alpha 1 antitrypsin deficiency. There are many tests that have to be performed for diagnosing this kind of deficiency the early tests includes serum level. If a person has low level of a1at then it verify the diagnosis and so further assessment is carried out. The individuals with a1ad might also build up emphysema in their 30s and 40s, even if they do not have a history of smoking.

There are several ways of treating alpha 1 antitrypsin deficiency that include bronchodilation, smoking cessation as well as physical rehabilitation. This kind of deficiency is extremely common as it is one out of three common lethal genetic diseases which is mostly found among the matured white persons.

Particulars about mortality and morbidity rates are yet unknown. Racial groups apart from the whites are less affected by such deficiency. This kind of deficiency affects men and women equally.

This type of deficiency can be noticed in neonates and can be a cause of hepatitis and neonatal jaundice. The alpha 1 antitrypsin deficiency can also be present in newborns in the form of cholestatic jaundice and also in children in the form of liver failure or hepatic cirrhosis.

There is no single sign or symptom that can verify the diagnosis of this deficiency. Some of the symptoms and signs that are taken into consideration include airflow obstruction, enhanced respiratory work as well as hyperinflation. These signs sooner or later develop but are based on the rigorousness of emphysema during the diagnosis.

The alpha-1 antitrypsin deficiency implies that there is a lack of protein. The main aim of the treatment is to replace the protein that is lacking in the body. The protein that is missing is given by the way of a vein every week. For those who smoke it is very important to quit smoking.

The problem of airflow obstruction and other symptoms that happens because of the deficiency can be cured with similar treatment that is used for emphysema. Some of the symptoms of alpha1-antitrypsin deficiency can be relieved with the help of Bronchodilators. For bacterial complications one can use antibiotics. This kind of deficiency have many symptoms but it is very difficult to diagnose, them yet it is important to identify them for treatment at the right time.