Evidence map›Paper›PMID 40487881›Full record

ReviewThe World Allergy Organization journal2025

Hereditary angioedema diagnosis: Reflecting on the past, envisioning the future.

Anete S Grumach, Marc A Riedl, Lei Cheng, Siddharth Jain, Daniel Nova Estepan, Andrea Zanichelli

Abstract readReview
In one paragraph

Review in The World Allergy Organization journal, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.

0numbers the graph read from it
0cells of the map it votes in
5citing 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

5 citing papers in PubMed.

  1. Review
  2. Review
  3. Article
  4. Article
  5. 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

6 authors.

Anete S GrumachFaculdade de Medicina, Centro Universitario Faculdade de Medicina ABC (CEUFMABC), Santo André, Brazil.
Marc A RiedlDivision of Allergy and Immunology, Department of Medicine, University of California San Diego, La Jolla, CA, USA.
Lei ChengDepartment of Otorhinolaryngology & Clinical Allergy Center, The First Affiliated Hospital, Nanjing Medical University, Nanjing, China.
Siddharth JainTakeda Development Center Americas, Inc., Lexington, MA, USA.
Daniel Nova EstepanTakeda Development Center Americas, Inc., Lexington, MA, USA.
Andrea ZanichelliOperative Unit of Medicine, Angioedema Center, IRCCS Policlinico San Donato, San Donato Milanese, Milan, Italy.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Individuals with hereditary angioedema (HAE), a rare disease most frequently associated with deficiency (HAE-C1INH-Type1) or dysfunction (HAE-C1INH-Type2) of C1 inhibitor (C1INH), continue to experience frequent misdiagnoses and long delays in diagnosis, preventing appropriate management strategies and placing the patients at continued risk of inappropriate management of painful, debilitating, and potentially fatal swelling attacks. Physician education to increase HAE awareness is important to initiate diagnostic testing for patients who may be at risk of HAE. Standard tests for diagnosing HAE-C1INH-Type1 and HAE-C1INH-Type2 include measurements of antigenic C4 level, antigenic C1INH level, and C1INH function; in contrast, known subtypes of HAE due to normal C1INH can only be confirmed through genetic testing. Current diagnostic tests have certain limitations related to sample handling, storage, and transportation; concerns about the sensitivity and specificity of current assays have also been reported. Furthermore, the accessibility of diagnostic testing for HAE is not universal. Therefore, there is a persistent need for robust and accessible diagnostic tools for HAE. In this review, we provide an overview of currently available assays for HAE diagnosis and summarize some of the novel diagnostic tools that may aid in overcoming diagnostic challenges in HAE and supporting the care of patients with HAE.

Indexed as

C1 inhibitorC4DiagnosisGenetic testingHereditary angioedema

Identifiers

PMID40487881
PMCPMC12142509

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Registered trials

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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.