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Al­pha 1-An­tit­rypsin De­fi­ciency: A Hered­i­tary Form of Chronic Ob­struc­tive Pul­monary Disease

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Chronic ob­struc­tive pul­monary disease (COPD) is a form of lung disease that lim­its the flow of air into and out of the lungs, re­sult­ing in short­ness of breath. Smok­ing cigarettes is the most com­mon cause, but chronic in­hala­tion of ir­ri­tat­ing dusts also can cause COPD. The com­mon forms of COPD re­sult from dam­ag­ing in­flam­ma­tion that nar­rows and scars air­ways, in­creased mu­cous for­ma­tion (to­gether called chronic bron­chi­tis), and em­phy­sema. In em­phy­sema, there is pro­gres­sive de­struc­tion of the walls of the alve­oli, the small air sacs where oxy­gen is ab­sorbed, from in­haled air and car­bon diox­ide dif­fuses into ex­haled air. Ap­prox­i­mately two per­cent of peo­ple who ap­pear to have COPD ac­tu­ally have a ge­netic dis­or­der called Al­pha 1-an­tit­rypsin (A1AT) de­fi­ciency. Al­pha 1-an­tit­rypsin is a protein made in the liver that is then se­creted into the blood. This protein pro­tects nor­mal body tis­sues from dam­age by trypsin and other po­ten­tially dam­ag­ing mol­e­cules re­leased from neu­trophils and macrophages in ar­eas of in­flam­ma­tion, par­tic­u­larly in the lungs. Nor­mal blood lev­els of A1AT are ap­prox­i­mately 1 to 3 g/ L of serum. Val­ues less than 0.8 g/ L are as­so­ci­ated with a sig­nif­i­cant risk of COPD. Ab­nor­mal A1AT genes re­sult in de­creased al­pha-1 an­tit­rypsin ac­tiv­ity in the blood and ac­cu­mu­la­tion of ab­nor­mal al­pha-1 an­tit­rypsin protein in liver cells. The de­fec­tive A1AT is not se­creted prop­erly, can ac­cu­mu­late in the liver, and can lead to liver dam­age and scar­ring (cir­rho­sis). Al­pha-1 an­tit­rypsin de­fi­ciency can cause liver disease,

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