Evidence map›Paper›PMID 26341117›Full record

ReviewTherapeutic advances in respiratory disease2016

Alpha-1-antitrypsin deficiency: increasing awareness and improving diagnosis.

Timm Greulich, Claus F Vogelmeier

Open access · greenAbstract readReview
PubMed Full text at PMC Publisher
In one paragraph

Review in Therapeutic advances in respiratory disease, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 34 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
34citing papers in PubMed, 1 pooled it
3.3field-weighted citation impact, top 8% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

34 citing papers in PubMed, 1 synthesis or guideline pooled it, 65 citations in OpenAlex.

  1. Prevalence of αEuropean respiratory review : an official journal of the European Respiratory Society · 2020
    Pooled it
  2. Trial
  3. Article
  4. Review
  5. Patient experience of alpha-1 antitrypsin deficiency-associated liver disease: a qualitative study.Quality of life research : an international journal of quality of life aspects of treatment, care and rehabilitation · 2025
    Article
  6. Observational
  7. Review
  8. Review
  9. Article
  10. Review
  11. Article
  12. Article
  13. Article
  14. Article
  15. Review
  16. Article
  17. Article
  18. Improving the Lives of Patients with Alpha-1 Antitrypsin Deficiency.International journal of chronic obstructive pulmonary disease · 2020
    Review
  19. New Patient-Centric Approaches to the Management of Alpha-1 Antitrypsin Deficiency.International journal of chronic obstructive pulmonary disease · 2020
    Review
  20. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

2 authors at 1 institution in 1 country.

Timm GreulichDepartment of Medicine, Pulmonary and Critical Care Medicine, University Medical Centre Giessen and Marburg, Philipps-University, Baldingerstrasse, 35043 Marburg, Germany greulich@med.uni-marburg.de.
Claus F VogelmeierDepartment of Medicine, Pulmonary and Critical Care Medicine, University Medical Centre Giessen and Marburg, Philipps-University, Member of the German Centre for Lung Research (DZL), Marburg, Germany.
Universities of Giessen and Marburg Lung Center · DE

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Alpha-1-antitrypsin deficiency (AATD) is a hereditary disorder that is characterized by a low serum level of alpha-1-antitrypsin (AAT). The loss of anti-inflammatory and antiproteolytic functions, together with pro-inflammatory effects of polymerized AAT contribute to protein degradation and increased inflammation resulting in an increased risk of developing chronic obstructive pulmonary disease (COPD) and emphysema, especially in smokers. AATD is a rare disease that is significantly underdiagnosed. According to recent data that are based on extrapolations, in many countries only 5-15% of homozygous individuals have been identified. Furthermore, the diagnostic delay typically exceeds 5 years, resulting in an average age at diagnosis of about 45 years. Although the American Thoracic Society/European Respiratory Society recommendations state that all symptomatic adults with persistent airway obstruction should be screened, these recommendations are not being followed. Potential reasons for that include missing knowledge about the disease and the appropriate tests, and the low awareness of physicians with regard to the disorder. Once the decision to initiate testing has been made, a screening test (AAT serum level or other) should be performed. Further diagnostic evaluation is based on the following techniques: polymerase chain reaction (PCR) for frequent and clinically important mutations, isoelectric focusing (IEF) with or without immunoblotting, and sequencing of the gene locus coding for AAT. Various diagnostic algorithms have been published for AATD detection (severe deficiency or carrier status). Modern laboratory approaches like the use of serum separator cards, a lateral flow assay to detect the Z-protein, and a broader availability of next-generation sequencing are recent advances, likely to alter existing algorithms.

Indexed as

Adultalpha 1-Antitrypsinalpha 1-Antitrypsin DeficiencyDelayed DiagnosisHumansIsoelectric FocusingMass ScreeningMiddle AgedPolymerase Chain ReactionPulmonary Disease, Chronic ObstructivePulmonary EmphysemaSmokingalpha 1-AntitrypsinAlpha-1-antitrypsin deficiency (AATD)awarenessdiagnosisscreeningtest

Identifiers

PMID26341117
PMCPMC5933657
OpenAlexW1249821682

What OpenQuestion holds

Textmetadata
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.