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Alpha 1 Antitrypsin Deficiency

Pulmonary disorders are predominantly associated with factors that contribute to the onset of the disease. The alpha 1 antitrypsin deficiency is a significant factor that acts a precursor for many pulmonary disorders. Majority of the deaths caused due to chronic pulmonary obstructive disease have been associated with the alpha 1 antitrypsin deficiency. In addition to pulmonary disorder, alpha 1 antitrypsin deficiency is also reported to have an impact on the liver causing obstruction and cancers.

Alpha 1 antitrypsin deficiency was discovered by Laurell and Erickson in the year 1963. Their studies on the disease paved the foundation for identifying the pathogenesis leading to emphysema. Alpha 1 antitrypsin deficiency is a genetic disorder. Alpha 1 antitrypsin is a protein that is synthesized in the liver. It is distributed through the bloodstream to facilitate protection of the lungs in preventing attacks caused by other proteins in the body. The incidence of alpha 1 antitrypsin deficiency begins when the respective protein molecules have a defined shape after their production from the liver. Such protein molecules are blocked and do not enter the bloodstream thereby leaving the target region lungs susceptible to conditions such as emphysema.

Clinical manifestations of Alpha 1 Antitrypsin Deficiency

The onset of alpha 1 antitrypsin deficiency occurs at the age of thirty. Since it is a genetic disorder patients who have a history of their parents carrying the respective deficiency are more susceptible. The alpha- 1 antitrypsin deficiency symptoms are predominantly associated with shortness of breath and the inability to exercise. Decreased alpha 1 antitrypsin in the lungs leaves the pulmonary region more susceptible to proteins such as neutrophil elastase which has catastrophic effect on the alveoli.

Accumulation of the alpha- 1 antitrypsin protein in the liver because of its abnormal shape during the production causes damage to the liver tissue leading to serious conditions such as cirrhosis. Wheezing and chronic obstructive pulmonary disease (COPD) are quite common. Alpha- 1 antitrypsin deficiency is also reported to cause a skin disorder called panniculitis in which the white blood cell concentration increases resulting in painful lumps under the skin.

Diagnosis of Alpha-1 Antitrypsin Deficiency

The diagnosis of alpha- 1 antitrypsin deficiency is done by examining the history of the patient. This provides the foundation to identifying genetic involvement in the transmission of the disease. Patients having a history of asthma, chronic liver disease and COPD are taken as possible cases for alpha- 1 antitrypsin deficiency. Initial diagnosis is done by radiological examination of lungs and associated tissues. The observations are correlated with Liver function test and clotting studies. Phenotypic and genotypic determination of the disorder is also done as a diagnostic step in studying the disease on a molecular level.

Treatment of Alpha-1 Antitrypsin Deficiency

Though alpha- 1 antitrypsin deficiency is a genetic disorder, the treatment options recommended for it are associated with the lifestyle of the person; especially people who smoke and consume alcohol in large amounts. Smoking and alcohol consumption is strictly prohibited as it aggravates the condition. In case of pulmonary and liver impairments, necessary drugs are prescribed to heal the scarred tissue. Patients are advised to avoid dust, and inhalation of harmful fumes. Exercises for breathing and cardiovascular activity are recommended to increase the endurance of the pulmonary muscles and to fight shortness of breath.

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Collection of Pages - Last revised Date: September 18, 2021