Hernández-Pérez José María, Khadour-Khadour Hassan, Romero-Romero Gema, García-Bello Miguel Ángel
Department of Neumology, Hospital Universitario Nuestra Señora de Candelaria, Carretera del Rosario 145, 38010 Santa Cruz de Tenerife, Spain.
Evaluation Service of the Canarian Health Service, Research Network on Chronicity, Primary Care and Health Promotion (RICAPPS), 38001 Santa Cruz de Tenerife, Spain.
J Clin Med. 2024 Dec 17;13(24):7711. doi: 10.3390/jcm13247711.
Alpha-1 antitrypsin deficiency (AATD) is a genetic condition that predisposes a person to certain diseases over their lifetime, mainly including lung disease (in the form of emphysema) and liver disease (liver cirrhosis). Quality of life questionnaires are instruments designed to quantify the deterioration of a patient's health. : This study aimed to assess whether certain quality of life tests that are routinely used in clinical practice can be useful for patients with AATD. : A sample of AATD patients, with various genotypes, but with the common characteristic that they must have both altered alleles (Pi* ≠ M), participated in the study. Different quality of life tests were used, including the COPD Assessment Test (CAT), COPD and Asthma Sleep Impact Scale, the short form of the Short Form Health Survey, and EuroQol 5 dimensions, and were related to differing clinical and functional characteristics. : The sample was composed of 54 patients, and slightly more than half of the participants were women (57.4%), with a mean age of 51.5 ± 13.7. The main genotypes were PiSZ (43.4%) and PiZZ (34%). In patients under 65 years of age ( = 47), those who were actively working could walk a greater distance in the walking test, namely, 573 m (511-629), compared to those who were not actively working, namely, 415.5 m (392-469; < 0.001). Active non-workers had a worse CAT (13.6 ± 7.8 vs. 4.6 ± 4.3; < 0.001). In total, 80% of non-working patients had exacerbations, but only 46. 9% of those who were active, although the association did not reach statistical significance ( = 0.068). Having a lower score in the physical component of SF-12 was related to suffering from lung disease (46.0 ± 11.4 vs. 38.4 ± 11.1 ( = 0.026)). : Quality of life tests were able to detect differences and relate them to functional factors such as the distance covered in the walking test, being sensitive and specific in this regard.
α-1抗胰蛋白酶缺乏症（AATD）是一种遗传性疾病，会使人在一生中易患某些疾病，主要包括肺部疾病（以肺气肿形式出现）和肝脏疾病（肝硬化）。生活质量问卷是用于量化患者健康状况恶化程度的工具。本研究旨在评估临床实践中常规使用的某些生活质量测试对AATD患者是否有用。选取了具有不同基因型但共同特征为两个等位基因均发生改变（Pi*≠M）的AATD患者样本参与研究。使用了不同的生活质量测试，包括慢性阻塞性肺疾病评估测试（CAT）、慢性阻塞性肺疾病和哮喘睡眠影响量表、简短健康调查问卷简表以及欧洲五维健康量表，并将其与不同的临床和功能特征相关联。该样本由54名患者组成，略超过一半的参与者为女性（57.4%），平均年龄为51.5±13.7岁。主要基因型为PiSZ（43.4%）和PiZZ（34%）。在65岁以下的患者（n = 47）中，与未积极工作的患者相比，积极工作的患者在步行测试中能够行走更远的距离，即573米（511 - 629米），而未积极工作的患者为415.5米（392 - 469米；P < 0.001）。未积极工作的患者CAT评分更差（13.6±7.8 vs. 4.6±4.3；P < 0.001）。总体而言，80%的未工作患者有病情加重情况，但积极工作的患者中只有46.9%有病情加重，尽管这种关联未达到统计学显著性（P = 0.068）。SF - 12身体成分得分较低与患有肺部疾病相关（46.0±11.4 vs. 38.4±11.1（P = 0.026））。生活质量测试能够检测出差异并将其与功能因素（如步行测试中的行走距离）相关联，在这方面具有敏感性和特异性。
