Clinical Characteristics of Subjects With Symptoms of α 1 -Antitrypsin Deficiency Older Than 60 Years

Campos, Michael; Alazemi, Saleh; Zhang, Guoyan; Salathé, Matthias; Wanner, Adam; Sandhaus, Robert A.; Baier, H.

doi:10.1378/chest.08-1129

Cited by 34 publications

(33 citation statements)

References 30 publications

(24 reference statements)

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“…In contrast, the experience with HRQoL questionnaires in patients with emphysema due to AATD is more limited. In these studies, HRQoL was measured with the respiratory specifi c St. George's Respiratory Questionnaire (SGRQ) and the generic SF-36 questionnaire (8)(9)(10). Th e introduction of new instruments which are shorter and more appropriate for routine clinical use require the evaluation of their performance in this particular phenotype of patients with COPD due to AATD.…”

Section: Introductionmentioning

confidence: 99%

Usefulness of the CAT, LCOPD, EQ-5D and COPDSS Scales in Understanding the Impact of Lung Disease in Patients with Alpha-1 Antitrypsin Deficiency

Manca

Rodrı́guez

Huerta

et al. 2014

COPD: Journal of Chronic Obstructive Pulmonary Disease

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Alpha-1-antitrypsin deficiency (AATD) is an inherited disorder responsible for early onset emphysema associated with a significant impairment of health-related quality of life (HRQoL). Our aim was to assess the usefulness of different instruments to evaluate the HRQoL in patients with AATD compared to non-AATD COPD. Observational, cross-sectional study in which all patients filled out a series of questionnaires: the COPD severity score (COPDSS), the EuroQoL 5-Dimensions (EQ-5D), the Living with COPD (LCOPD) and the COPD Assessment Test (CAT). A total of 96 patients were included, 35 with AATD (mean age 56.5 yrs, 57.1% male and mean FEV1(%) 48.7% and 61 non-AATD COPD (70.3 yrs, 80.3% men and FEV1(%) 47%. The questionnaire scores were similar, with a tendency towards worse scores in AATD for the EQ-5D (VAS) (64.8 (20.2) vs. 71.6 (17.1); p = 0.08). The correlations between the different scores and FEV1(%) were significant in both groups for COPDSS and LCOPD, but not for CAT and EQ-5D. In general, the correlations of scores with FEV1(%) were stronger for AATD compared with non-AATD COPD patients: COPDSS r = -0.570, p < 0.01 for AATD and r = -0.260, p < 0.05 for COPD; LCOPD r = -0.502, p < 0.001 for AATD and r = -0.304, p < 0.05 for non-AATD COPD. Patients with AATD have a similar degree of HRQoL impairment as older subjects with non-AATD COPD and showed a stronger correlation between HRQoL measurements and lung function impairment compared with non-AATD COPD. This may be related to the characteristics of the disease in these patients who are usually younger, with less co-morbidity and lower smoking consumption.

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Section: Introductionmentioning

confidence: 99%

Usefulness of the CAT, LCOPD, EQ-5D and COPDSS Scales in Understanding the Impact of Lung Disease in Patients with Alpha-1 Antitrypsin Deficiency

Manca

Rodrı́guez

Huerta

et al. 2014

COPD: Journal of Chronic Obstructive Pulmonary Disease

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“…La mayoría de las personas con enfermedad pulmonar o hepática son homocigotos para el alelo PI Z-o son heterocigotos PI SZ- 5 . La exposición al humo del tabaco es el factor más importante en el desarrollo de la sintomatología pulmonar (EPOC) y el acortamiento de la esperanza de vida, aunque otros contaminantes ambientales también deben ser considerados 1,3,[5][6][7] . Las manifestaciones clínicas pueden variar ampliamente entre los pacientes, que van desde estar asintomáticos hasta una enfermedad hepática o pulmonar grave 3 .…”

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“…La exposición al humo del tabaco es el factor más importante para desarrollar una enfermedad pulmonar en estos pacientes 3,6 . Así, una menor exposición al tabaco está relacionada con una progresión más lenta de la enfermedad 6 .…”

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“…Así, una menor exposición al tabaco está relacionada con una progresión más lenta de la enfermedad 6 . Los pacientes con déficit de AAT pueden ser más vulnerables a los carcinóge-nos contenidos en el humo del tabaco que los que no tienen esta deficiencia.…”

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“…Los pacientes con déficit de AAT sintomático asociado a EPOC que llegan a los 60 años o más representan un grupo con unas características clínicas particulares. Estos individuos tienes menos síntomas relacionados con el déficit de AAT y las exacerbaciones de la enfermedad son más leves que en individuos más jóvenes 6 .…”

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Diagnóstico tardío de déficit de α-1-antitripsina

Rodríguez

Puga

García-Sanz

et al. 2011

Anales Sis San Navarra

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. REsUMEnEl déficit de alfa-1 antitripsina (D-AAT) es una enfermedad genética, relativamente frecuente en poblaciones de origen europeo. Frecuentemente está infradiagnosticada, con largos retrasos entre el inicio de los síntomas respiratorios y el diagnóstico definitivo. El D-AAT puede diagnosticarse con la determinación de los niveles séricos de esta proteína, y, cuando están por debajo del rango normal debe ser confirmado con el fenotipo. El seguimiento correcto de la progresión de la enfermedad debe realizarse en todos los casos, ya que se asocia con mejor pronóstico.Presentamos el caso de una mujer de 69 años, con infecciones respiratorias de repetición y sintomatología asmática. Los niveles de AAT estaban por debajo de la normalidad, confirmándose posteriormente el fenotipo ZZ.El retraso diagnóstico de nuestra paciente parece reforzar la necesidad de alertar a los médicos sobre esta enfermedad, frecuentemente asociada con sínto-mas de asma o EPOC.Palabras clave. Alfa-1 antitripsina. Asma. EPOC. Retraso diagnóstico. AAT-D can be readily diagnosed by measurement of the serum or plasma protein level, which should be confirmed by assessing the genotype or protein phenotype when AAT levels are below the normal range.Close monitoring for the development or progression of lung disease or liver disease is required, and can improve the prognosis.We show the case of a 69 year old woman with recurrent respiratory infections and asthma symptoms. The serum levels of AAT were below the normal range, and ZZ genotype was confirmed.The delayed diagnosis of our patient seems to emphasize the need to remind the doctors about AAT-D, frequently associated with asthma or COPD symptoms.

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The impact of age on outcomes in chronic obstructive pulmonary disease differs by relationship status

et al. 2013

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Alpha-1 antitrypsin deficiency (AATD) is a genetic condition that can lead to early-onset chronic obstructive pulmonary disease (COPD). The objective of this study was to examine the impact of age on psychological and clinical outcomes among individuals with AATD-associated COPD. 468 individuals with AATD-associated COPD (age 32 to 84 at baseline) completed questionnaires at baseline, 1- and 2-year follow-up. Age was examined as a predictor of depression, anxiety, health-related quality of life, and breathlessness at all three time points using linear mixed models. Age was associated with anxiety (b = −0.09, SE = 0.02, p < 0.001) and health-related quality of life (b = −0.29, SE = 0.09, p < 0.001). Age also had a statistically significant interaction with relationship status when predicting depression, health-related quality of life, and breathlessness. Among individuals who were single, younger age was associated with more symptoms of depression (b = −0.08, SE = 0.03, p < 0.01), worse health-related quality of life (b = −0.61, SE = 0.16, p < 0.001), and more breathlessness (b = −0.023, SE = 0.009, p < 0.01) throughout the two-year study. Age was not associated with these three outcomes among individuals who were married/part of an unmarried couple. Results suggest that individuals who develop a chronic illness at a young age, particularly those who are single, may be more likely to have worse psychological and clinical outcomes.

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Clinical Characteristics of Subjects With Symptoms of α 1 -Antitrypsin Deficiency Older Than 60 Years

Cited by 34 publications

References 30 publications

Usefulness of the CAT, LCOPD, EQ-5D and COPDSS Scales in Understanding the Impact of Lung Disease in Patients with Alpha-1 Antitrypsin Deficiency

Usefulness of the CAT, LCOPD, EQ-5D and COPDSS Scales in Understanding the Impact of Lung Disease in Patients with Alpha-1 Antitrypsin Deficiency

Diagnóstico tardío de déficit de α-1-antitripsina

The impact of age on outcomes in chronic obstructive pulmonary disease differs by relationship status

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Clinical Characteristics of Subjects With Symptoms of α 1 -Antitrypsin Deficiency Older Than 60 Years

Cited by 34 publications

References 30 publications

Usefulness of the CAT, LCOPD, EQ-5D and COPDSS Scales in Understanding the Impact of Lung Disease in Patients with Alpha-1 Antitrypsin Deficiency

Usefulness of the CAT, LCOPD, EQ-5D and COPDSS Scales in Understanding the Impact of Lung Disease in Patients with Alpha-1 Antitrypsin Deficiency

Diagnóstico tardío de déficit de &alpha;-1-antitripsina

The impact of age on outcomes in chronic obstructive pulmonary disease differs by relationship status

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Diagnóstico tardío de déficit de α-1-antitripsina