Alpha-1 antitrypsin deficiency associated to the variant PI*Mpalermo: Analysis of 8 cases

Alpha‐1 antitrypsin deficiency: PI*MpalermoandPI*Siiyama, current damage and future risk

“…Second, the Pi*M palermo deficient allele is mainly characterized by significantly decreased plasma levels and, in our experience and that of other authors, 3 in the simple heterozygous state (Pi*MM palermo ) the possibility of developing disease in the form of emphysema is much lower although not unlikely, and it increases significantly when associated with risk factors such as smoking. However, there is no knowledge to date of liver involvement.…”

Genetic Epidemiology of Alpha-1 Antitrypsin Deficiency in Macaronesia

“…Finally, at the University Hospital of Tenerife a retrospective analysis carried out on samples from 325 subjects referred for clinical suspicion of AATD, various uncommon genotypes, including several Mmalton, Mpalermo, QOcardiff, QOamersfoort, and other poorly labelled genotypes, were found. Overall, the percentage of patients carrying rare deficiency alleles was 7.7%, eighty percent of them PI*Mmalton and PI*Mpalermo [17‒19].…”

“…The authors found 25 PI*ZZ, 69 PI*SZ, 25 PI*SS, and various uncommon, rare and null genotypes. Overall, the percentage of patients carrying rare deficiency alleles was 7.7%, eighty percent of them PI*Mmalton and PI*Mpalermo [17‒19].…”

“…Cape Verde subsequently became an African slave market, and later an important supply stop for transatlantic shipping. The population of Cape Verde (603,901 people) is mainly descended from its first settlers, the vast majority Africans from West Africa, and a minority of Portuguese, Italians, and Spaniards settlers [19].…”

“…A bibliographic search was carried out in MEDLINE, Embase (through Ovid), and Google Scholar, until December 2023, looking for studies on prevalence of AATD in the general population and in screening of people clinically suspected of being affected by AATD in Macaronesia, selecting studies published in journals reviewed by peers in order to create a database with reliable results. With the keywords “Alpha-1 antitrypsin deficiency” and the name of each archipelago, in English, and some articles cited in the bibliography of those selected, 16 articles were compiled: 2 on Madeira [7, 8], 13 on the Canary Islands [9‒21], and 1 on Cape Verde [22]. None was found about the Azores.…”