Familial emphysema

An oq-antitrypsin level should be obtained in younger patients (less than 45 years old) presenting with COPD signs and symptoms, especially if there is a strong family history of emphysema. 

Father with emphysema and lung cancer. There is no family history of type 2 diabetes or heart disease... 

The result is that panic disorder, particularly when associated with agoraphobia, confers considerable social impairment. Patients with panic disorder are less productive at work, are prone to absenteeism, are less satished in family roles, and have higher mortality and suicide rates. In addition, the physical symptoms of panic disorder are frequently misattributed to medical conditions such as emphysema or heart disease and lead to the costly and inappropriate use of emergency room and other medical services. Panic disorder is costly both from an economic and a social perspective. 

Correct answer = B. o1-Antitrypsin deficiency is a genetic disorder that can cause pulmonary emphysema even in the absence of cigarette use. An deficiency of a1-antitrypsin permits increased elastase activity to destroy elastin in the alveolar walls, even in nonsmokers. a1-antitrypsin deficiency should be suspected when chronic obstructive pulmonary disease develops in a patient younger than 45 years who does not have a history of chronic bronchitis or tobacco use, or when multiple family members develop obstructive lung disease at an early age. 

Serine proteases (SP) are a family of enzymes that use a uniquely activated serine residue in the substrate-binding pocket to catalytically hydrolyze peptide bonds [66], SP carry out a diverse array of physiological functions, of which the best known are digestion, blood clotting, fibrinolysis, fertilization, and complement activation during immune responses [67], They have also been shown to be abnormally expressed in many diseases including cancer, arthritis, and emphysema [42, 43, 67-70],... 

Pulmonary gene therapy is attractive for the treatmment of chronic bronchitis, cystic fibrosis, a-1 antitrypsin deficiency, familial emphysema, asthma, pulmonary infections, surfactant deficiency, pulmonary hypertension, lung cancer, and malignant mesothelioma. The pulmonary endothelium may act as a bioreactor for the production and secretion of therapeutic proteins, such as clotting factors and erythropoietin into the blood circulation. There is a potential benefit for acquired lung diseases, as well as cancers, to be controlled and possibly treated by expression of cytokines, surfactant, antioxidant enzymes, or mucoproteins within lung cells. 

And what about those tales told in every family about Grandpa Joe or Uncle Peter who ate bacon and eggs every morning, hated fruits and vegetables, and demanded meat and potatoes for dinner seven days a week They lived into their nineties and never had a problem. Sure. And there certainly are people who smoke cigarettes all their lives without getting lung cancer or emphysema, but they are the exception to what we now know is the rule. 

Some people have a genetic predisposition to emphysema. This is called familial emphysema. These individuals have been found to have a genetic defect in the gene that encodes the human plasma protein Uj-antitrypsin. As the name suggests, Ui-antitrypsin is an inhibitor of the proteolytic enzyme trypsin. But, as we have seen in this chapter, trypsin is just one member of a large family of proteolytic enzymes called the serine proteases. In the case of the oii-antitrypsin activity in the lung, it is the inhibition of the enzyme elastase that is the critical event. 

Elastase damages or destroys elastin, which in turn promotes the development of emphysema. People with normal levels of Ui-antitrypsin are protected from familial emphysema because their aj-antitrypsin inhibits elastase and, thus, protects the elastin. The result is healthy alveoli in the lungs. However, individuals with a genetic predisposition to emphysema have... 

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