Alpha₁-Antitrypsin Deficiency and Pregnancy

ABSTRACT

Alpha₁-antitrypsin deficiency is an inherited pulmonary disorder which results from a deficiency of a major plasma protease inhibitor. The onset and severity of symptoms vary widely and depend on the genotype and whether the patient smokes cigarettes. Alpha₁-antitrypsin in pregnancy has only been previously reported twice. Our patient had a functional serum alpha₁-antitrypsin level which was 15% of normal but was clinically asymptomatic and she did not smoke. Her genotype revealed a non-ZZ pattern. Her obstetric history was complicated by preterm labor in each of her five ongoing pregnancies.

Alpha₁-antitrypsin deficiency is inherited via two codominant autosomal genes. Although there is great variability in severity of disease, seriously affected patients may have emphysema and hepatic abnormalities. Patients with non-ZZ genotypes or who are heterozygotes may have favorable pregnancy outcomes.

Keywords

Alpha₁-antitrypsin deficiency - pulmonary disease - genetics