Karadoğan Dilek, Dreger Bettina, Osaba Lourdes, Ahmetoğlu Enes, Özyurt Songül, Yılmaz Kara Bilge, Hürsoy Nur, Telatar Tahsin Gökhan, Şahin Ünal
School of Medicine, Department of Chest Diseases, Recep Tayyip Erdoğan University, Rize, Turkey.
Pulmonology Medical Affairs, Grifols Deutschland GmbH, Frankfurt, Germany.
BMC Pulm Med. 2024 Dec 18;24(1):622. doi: 10.1186/s12890-024-03421-y.
Alpha-1 antitrypsin deficiency (AATD) is associated with increased susceptibility to chronic obstructive pulmonary disease (COPD). AATD results from mutations in the SERPINA1 gene and over 500 rare mutations have been identified. Despite these findings and recommendations from major healthcare organizations, testing of COPD patients and their family members for AATD remains inadequate.
We examined genotypes and clinical characteristics of COPD patients (index cases; n = 14) treated at Recep Tayyip Erdoğan University Chest Diseases Department and their relatives (n = 17).
When index cases were compared with screened relatives positive for AATD (n = 14), index cases were older and more predominantly male than screened relatives. Both groups had extensive smoking histories. All of the index cases and one of the screened relatives had been diagnosed with COPD. Clinical characterization of the COPD cases (14 index cases; 1 screened relative) showed that they had moderate to severe COPD with pre-treatment AAT levels of 0.59 ± 0.40 g/L (mean ± SD) and a COPD Assessment Test (CAT) score of 16.0 ± 8.12. The majority of these patients (73.3%) had panlobular emphysema. Five of the patients were treated with AAT augmentation which led to a decrease in the number of COPD exacerbations. Genotyping revealed that the most common rare allele identified in this population was M (c.227_229delTCT mutation on the M1(Val) allelic background).
More testing and research need to be done to identify the relative prevalence of rare AATD variants. Earlier identification could lead to more effective treatment of affected individuals and improvement in their quality of life.
α-1抗胰蛋白酶缺乏症（AATD）与慢性阻塞性肺疾病（COPD）易感性增加有关。AATD由SERPINA1基因突变引起，已鉴定出500多种罕见突变。尽管有这些发现以及主要医疗保健组织的建议，但对COPD患者及其家庭成员进行AATD检测仍不充分。
我们研究了在雷杰普·塔伊普·埃尔多安大学胸科接受治疗的COPD患者（索引病例；n = 14）及其亲属（n = 17）的基因型和临床特征。
将索引病例与AATD筛查呈阳性的亲属（n = 14）进行比较时，索引病例比筛查亲属年龄更大，男性比例更高。两组都有广泛的吸烟史。所有索引病例和一名筛查亲属被诊断患有COPD。COPD病例（14例索引病例；1名筛查亲属）的临床特征表明，他们患有中度至重度COPD，治疗前AAT水平为0.59±0.40 g/L（平均值±标准差），COPD评估测试（CAT）评分为16.0±8.12。这些患者中的大多数（73.3%）患有全小叶型肺气肿。5名患者接受了AAT补充治疗，这导致COPD急性加重次数减少。基因分型显示，该人群中鉴定出的最常见罕见等位基因为M（M1（Val）等位基因背景上的c.227_229delTCT突变）。
需要进行更多检测和研究以确定罕见AATD变异体的相对患病率。早期识别可导致对受影响个体进行更有效的治疗并改善其生活质量。
