Testing 300 patients for alpha-1 antitrypsin deficiency in Caguas, Puerto Rico.

Alpha-1 Antitrypsin Deficiency (AATD) is an inherited disorder that can cause lung and liver disease in adults and children. Homozygosity for the Z phenotype is the principal cause of AATD. There are about 100,000 people with AATD in the United States (not including the Island of Puerto Rico), and about the same number in Europe. Despite being one of the most common potentially lethal genetic diseases among Caucasian adults, AATD often remains unidentified, in part because related pulmonary symptoms often do not manifest until midlife when significant pulmonary functional degradation has already occurred. Our study aims to determine what is the prevalence of AATD in a specific population in Puerto Rico.