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A AT levels of 40 an esclation plan nd celings care nd 0% --20% , respctively. P*ZZ is he m st freuent geotype (5% ) am ng indiduals w th severe efi cincy. 2 Prvious stdies sugest tat om e aeas of Potugal m ay have a very high freuency of efi cent vaants. 3 O ter efi cent vaiants (nn-S, nn-Z) re conidered as ‘‘re’’ beause of teir ow freency, tey canot be idntifi ed by he uual alle-specifi c gentyping m eods nd canot lw ys be chaterized by isoectrofousing (EF) or phetyping; thefore tey an only be deected by m olcular blogy teciques, sch as gnom e seqncing. 4 C onsuently, in cses w th disrdant pasm a nd photype reults, it is im potant to cotinue dinosic aessm nt snce he idntifi ction of a seerely efi cent geotype suports he posible indcation of augm enation thrapy nd he need or am ly scrning. 1 T he PI*M

A PI*MS is not always a PI*MS. An example of when genotyping for alpha-1 antitrypsin deficiency is necessary

A PIMS is not always a PIMS. An example of when genotyping for alpha-1 antitrypsin deficiency is necessary