Evidence map›Paper›PMID 42029822›Full record

ReviewJournal of applied genetics2026

Modern approaches to the diagnosis of alpha-tryptasemia.

Lisiecka Maria Zofia, Luczak Joanna

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In one paragraph

Review in Journal of applied genetics, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
–field-weighted citation impact
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

0 citing papers in PubMed.

No citing paper in PubMed yet.

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.

Lisiecka Maria ZofiaDepartment of Allergology, National Medical Institute of the Ministry of the Interior and Administration, 137 Woloska Str, Warsaw, 02-507, Poland. mariazofialisiecka@gmail.com.ORCID http://orcid.org/0009-0000-9028-952X
Luczak JoannaClinic of Allergology and Lung Diseases, National Medical Institute of the Ministry of the Interior and Administration, 137 Woloska Str, Warsaw, 02-507, Poland.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

The purpose of the study was to determine the effectiveness of existing approaches to detect hereditary alpha-tryptasemia (HαT) and to identify key factors that affect the accuracy of differentiating this condition from other disorders associated with elevated tryptase levels. Methodologically, the work was based on a systematic literature review using the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) methodology, which involved critical analysis, selection, and synthesis of 62 scientific publications from 2019 to 2024, selected according to the criteria of availability of quantitative data on tryptase levels, genetic testing results and clinical symptoms. The results indicate that an increase in the number of copies of the TPSAB1 gene can be detected in 4–6% of the population and causes a consistently elevated basal tryptase level, which is associated with both an asymptomatic course (in approximately two-thirds of patients) and pathological manifestations such as gastrointestinal disorders, anaphylaxis, and neurovegetative disorders. It was found that the determination of “background” tryptase in the dynamics allows distinguishing hereditary elevation from acute mast cell degranulation, and a comprehensive genetic study of TPSAB1 together with the measurement of histamine, leukotrienes and prostaglandins increases the specificity of diagnosis. An important finding was that dysbiosis and related changes in intestinal barrier function can increase tryptase release and exacerbate clinical symptoms, which should be taken into account when choosing a therapeutic strategy. Given the data obtained, it was concluded that a multidisciplinary approach involving allergists, immunologists, and geneticists is needed, as well as periodic monitoring of tryptase levels. The practical significance lies in the improvement of diagnostic algorithms, which allows for earlier identification of hereditary alpha-tryptasemia and personalised management of patients.

Indexed as

Basal serum tryptase (BST)Digital PCR/MLPADysbiosisMast cell activationMultidisciplinary approachTPSAB1 copy number

Identifiers

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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.