Detección del déficit de alfa-1 antitripsina: estudio en pacientes con enfermedad pulmonar obstructiva crónica diagnosticados en atención primaria

García-Palenzuela, R.; Carrasco, R. Timiraos; Gómez-Besteiro, Inmaculada; Lavia, G.; Pose, M. Lago; Lara, Beatríz

doi:10.1016/j.semerg.2016.05.003

Cited by 6 publications

(3 citation statements)

References 17 publications

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“… 19 It has been suggested that up to 10% of Caucasian COPD patients may have AATD, 20 but our data implies this may be an overestimate. The frequency of Read Codes for likely severe deficiency in our study was less than 1%, and was consistent with case finding work in Spain 16 and the USA. 21 Whilst we recognize the limits of coding as a means of diagnosis, our strategy of calculating likely case numbers from permissive and stringent code choices minimized risks of underdiagnosis, and it is notable that our permissive code strategy gave very similar results to prospective screening of a COPD population (0.5% v 0.63% 21 of COPD cases).…”

Section: Discussionsupporting

confidence: 92%

“…14 Point of care and patient led testing have also been studied and were associated with a higher detection rate than in general clinics, but most studies did not have a formal control, so effects are uncertain. [14][15][16] Education of physicians was shown to result in an increase in AATD testing of COPD patients after written materials and a quiz to test knowledge were given, 17 or after watching an educational video, 18 however self-reporting of AAT test rates brings reliability of the data into question. It seems likely that a combination of healthcare policy around case finding, combined with education around AATD and how to test for it would all be required to ensure symptomatic patients were diagnosed reliably.…”

Section: Discussionmentioning

confidence: 99%

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Estimating the Prevalence of AATD Patients in the UK to Identify Underdiagnosis and Determine the Eligibility for Potential Augmentation Therapy

Newnham¹,

Quinn²,

Turner³

2023

COPD

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Purpose Alpha 1 antitrypsin deficiency (AATD) is a genetic risk factor for chronic obstructive pulmonary disease (COPD). Whilst testing for the condition is relatively simple, there is a disconnect in published literature between genetic epidemiology and numbers of patients known to specialists. This makes planning services for patients difficult. We aimed to estimate the number of patients likely to have lung disease eligible for specific AATD therapy within the UK. Patients and Methods The THIN database was used to determine the prevalence of AATD and symptomatic COPD. This, and published rates of AATD were used to extrapolate THIN data to the population size of the UK to give an indicative population size for symptomatic AATD patients who have lung disease. The Birmingham AATD registry was used to describe age at diagnosis, rate of lung disease and symptomatic lung disease for patients with PiZZ (or equivalent) AATD, together with the time from symptom onset to diagnosis, in order to aid interpretation of the THIN data and improve modeling. Results THIN data showed COPD prevalence of 3%, and AATD prevalence of 0.005–0.2%, depending on how stringently AATD diagnostic codes were applied. The majority of Birmingham AATD patients were diagnosed between the ages 46–55, whilst patients recorded in THIN tended to be older. The rate of COPD was similar in the THIN and Birmingham patients diagnosed with AATD. Modelling to the size of the UK demonstrated a likely symptomatic AATD population of between 3016 and 9866 people. Conclusion AATD is likely to be under-diagnosed in the UK. Based on projected patient numbers an expansion to specialist services is desirable, in particular if specific therapy for AATD such as augmentation were to be introduced to the healthcare system.

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Section: Discussionsupporting

confidence: 92%

Section: Discussionmentioning

confidence: 99%

Estimating the Prevalence of AATD Patients in the UK to Identify Underdiagnosis and Determine the Eligibility for Potential Augmentation Therapy

Newnham¹,

Quinn²,

Turner³

2023

COPD

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“…The sample size was calculated using version 13 of the STATA program with the following parameters: estimated prevalence 13%; confidence level 95%; and precision 2%. With these parameters, a sample size of 1,015 subjects was obtained [ 9 , 10 ].…”

Section: Methodsmentioning

confidence: 99%

Prevalence of genetic mutations in alpha-1 antitrypsin deficiency (aatd) in patients with chronic obstructive pulmonary disease in Colombia

et al. 2023

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Background Alpha-1 antitrypsin deficiency (AATD) is an underrecognized genetic disorder associated mainly with pulmonary emphysema and Chronic Obstructive Pulmonary Disease (COPD). All individuals with COPD regardless of age or ethnicity should be tested for AATD, but in Colombia its prevalence in unknown. Main objective To determine the prevalence of the genetic mutations, present in AATD in adult patients with COPD in Colombia, using a genotyping test on cells from the oral mucosa. Methods This was a multicentre, observational, cross-sectional study which included adult patients attending seven COPD care centres in Colombia. Demographic data, medical history, including history of exposure to smoking and biomass smoke, most recent spirometry, pharmacological and non-pharmacological treatment received, serum AAT levels, and mutations detected by the genotyping test were recorded for all the recruited patients. For the comparison of variables between the groups with and without mutation, we used the X2 test for the qualitative variables and the Student’s t-test or Mann-Whitney U test according to their distribution. Main findings We collected a sample of 1,107 patients, the median age was 73.8 years (87.6–79.9). Mutations were documented in 144 patients (13.01%), the majority had the M/S mutation (78.50%), followed by M/Z (9.72%). One patient had a ZZ mutation and two patients had null alleles. In total, 23 patients had mutations associated with serum AAT deficiency (levels below 60 mg/dl). Conclusions Genetic mutations were documented in 13.01% of patients with COPD in Colombia and 2.07% were AATD-related, showing that there is a significant number of underdiagnosed patients.

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Spectrum of Alpha-1 Antitripsin Deficiency Mutations Detected in Tenerife

Bugallo

Gonçálves

Martinez

et al. 2017

Archivos de Bronconeumología (English Edition)

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Detección del déficit de alfa-1 antitripsina: estudio en pacientes con enfermedad pulmonar obstructiva crónica diagnosticados en atención primaria

Cited by 6 publications

References 17 publications

Estimating the Prevalence of AATD Patients in the UK to Identify Underdiagnosis and Determine the Eligibility for Potential Augmentation Therapy

Estimating the Prevalence of AATD Patients in the UK to Identify Underdiagnosis and Determine the Eligibility for Potential Augmentation Therapy

Prevalence of genetic mutations in alpha-1 antitrypsin deficiency (aatd) in patients with chronic obstructive pulmonary disease in Colombia

Spectrum of Alpha-1 Antitripsin Deficiency Mutations Detected in Tenerife

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