Research 1 Essay

Alpha-1 Antitrypsin Deficiency
ABSTRACT:

Alpha-1 Antitrypsin deficiency (AAT) is a protein produced by the liver and mono-nuclear phagocytes then carried in the blood to the lungs (De Serres, 2003). These phagocytes are found in the blood and tissues throughout the body. AAT inhibits the protease trypsin, elastase and other serine proteases. Elastase is a powerful neutrophil-derived protease responsible for genetic emphysema and liver disease (De Serres). The body sends ATT to fight and protect the lungs from infection and inflammation caused by the enzyme elastase. In case of AAT deficiency, AAT protein will not be able to do its work. Lung disease resulting from the deficiency can produce shortness of breath, wheezing, cough, large production of sputum and frequent infections in the respiratory tract (Fromer). On the other hand, genetic emphysema is characterized primarily by damage to the lower lobes of the lungs. Elastase is also responsible for neonatal cholestasis, which can develop into juvenile cirrhosis and slowly into progressive liver disease in adulthood (De Serres). AAT deficiency is a common and fatal genetic cause of emphysema in adults (Bocca et al, 2006). It is an inherited metabolic disorder, which can develop into severe liver and lung injury (Balistreri, 2003).

INTRODUCTION:

AAT deficiency is currently found in approximately 5,000 people in the United States (Sharp et al, 2003). Although some of them have no symptoms, the lung function deteriorates on account of emphysema, asthma, chronic obstructive pulmonary disease or another respiratory disease in adults. In children, it can develop into severe liver disease, such as fatal hepatitis in the newborn and cirrhosis in adults (Sharp, et al). The current estimate of one type of AAT deficiency is 1 in 4,000 live births in the United States. This makes it the most common diseased condition, next only to cystic fibrosis. All five classes of the PiS and PiZ develop in 1 out of 9.8 people in Canada and 1 in 11.3 in the United States. The incidence is 1 in 3.8 in Portugal, 1 in 4.4 in Spain, 1 in 6.3 in France, and 1 in 13.4 in Italy (De Seres).

REVIEW OF LITERATURE:

AAT deficiency should be suspected when any of these certain features is diagnosed or found (Fromer, 2009). These are early-onset emphysema at any age and whatever the smoking history; a graver disease than emphysema at the base of the lung; a family history of difficult breathing; and bronchiectasis without apparent cause. Genetic testing is recommended for certain persons. Adults with symptomatic emphysema or COPD; who display symptoms and suffering from irreversible asthma despite the use of bronchodilators; asymptomatic adults who exhibit persistent airflow pulmonary obstruction and risk factors; suffer from necrotizing panniculitis; their siblings; and suffer from liver disease of unknown causes (Fromer).

AAT deficiency is mostly detected when an adult patient is diagnosed with emphysema in its early stage (Banasik, 2001). If the deficiency is detected before emphysema develops, the patient is told to avoid further risks. His family and personal history is taken so that screening may also be conducted with first-degree members, such as siblings. When the patient or any first-degree member of his family shows symptoms or signs of early-stage emphysema or unexplained cirrhosis, AAT deficiency should be suspected. Most people who develop emphysema before age 45 are regular smokers. There are often no physical signs until emphysema or cirrhosis has progressed. What becomes observable are episodic jaundice, difficulty in taking progressive exercise, shortness of breath or unexplained fatigue. AAT deficiency becomes difficult to detect in the absence of a clinical disease. What makes things worse is that the patient refuses to get screened because of insurance coverage and employment problems or the lack of accurate diagnosis and therapy (Banasik). Primary care should

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