Hospital Valle del Nalón, Pneumology Service (retired), Langreo, Spain.
Pneumology Department, Hospital Universitari Vall d'Hebron/Vall d'Hebron Research Institute (VHIR), Barcelona, Spain.
Respiration. 2024;103(7):368-377. doi: 10.1159/000538293. Epub 2024 Apr 18.
The prevalence of alpha-1 antitrypsin deficiency (AATD) in Macaronesia (i.e., Azores, Madeira, Canary Islands, and Cape Verde archipelagos) is poorly known. Our goal was to update it by selecting the most reliable available articles.
Literature search using MEDLINE, Embase (via Ovid), and Google Scholar, until December 2023, for studies on prevalence of AATD in the general population and in screenings, published in peer-reviewed journals.
Three studies carried out in the general population of Madeira, La Palma, and Cape Verde, and three screenings carried out in La Palma (2) and Gran Canaria (1) were selected. The frequencies of PIS in the general population showed an ascending gradient, from South to North, with values (per thousand) of 35 in Cape Verde, 82 in La Palma, and 180 in Madeira. The PIZ frequencies showed this same gradient, with values of 2 × 1,000 in Cape Verde, 21 in La Palma, and 25 in Madeira. Screenings detected high percentages of defective alleles, including several rare and null alleles, some unique to these islands.
The frequencies of PIS and PIZ in Madeira are comparable to the highest in the world. Those of the Canary Islands are similar to those of the peninsular population of Spain, and contrast with the low rates of Cape Verde. Screenings detected high numbers of deficient alleles. These results support the systematic investigation of AATD in clinically suspected patients and in relatives of index cases, to reduce underdiagnosis and apply early preventive and therapeutic measures in those affected.
麦哲伦群岛（即亚速尔群岛、马德拉群岛、加那利群岛和佛得角群岛）中α-1 抗胰蛋白酶缺乏症（AATD）的流行情况知之甚少。我们的目标是通过选择最可靠的可用文章来更新这一情况。
使用 MEDLINE、Embase（通过 Ovid）和 Google Scholar 进行文献检索，检索截至 2023 年 12 月，检索内容为在同行评审期刊上发表的关于一般人群和筛查中 AATD 患病率的研究。
选择了三项在马德拉岛、拉帕尔马岛和佛得角进行的一般人群研究，以及三项在拉帕尔马岛（2 项）和大加那利岛（1 项）进行的筛查研究。一般人群中 PIS 的频率显示出从南到北逐渐升高的趋势，其数值（每千例）分别为佛得角 35、拉帕尔马 82 和马德拉 180。PIZ 的频率也显示出相同的梯度，佛得角为 2×1000，拉帕尔马为 21，马德拉为 25。筛查发现了大量有缺陷的等位基因，包括一些罕见和无效的等位基因，其中一些是这些岛屿所特有的。
马德拉岛的 PIS 和 PIZ 频率与世界上最高的频率相当。加那利群岛的频率与西班牙半岛人口的频率相似，与佛得角的低频率形成对比。筛查发现了大量有缺陷的等位基因。这些结果支持对临床疑似患者和指数病例的亲属进行系统性的 AATD 调查，以减少漏诊，并对受影响者实施早期预防和治疗措施。
