ArticleOrphanet journal of rare diseases2025
Management of hereditary angioedema with normal C1Inh: a series of 163 French patients.
Article in Orphanet journal of rare diseases, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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.
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.
Who cites it
0 citing papers in PubMed.
No citing paper in PubMed yet.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
16 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundThe diagnosis of hereditary angioedema with a normal C1Inh was genetic. The two most frequent pathogenic variants are found in the FXII and PLG genes. Their management is similar to that of HAE patients with C1Inh deficiency but without evidence-based medicine.
objectiveThe French Reference Centre for Angioedema (CREAK) Our center identified all patients with HAE with a normal C1Inh to evaluate their therapeutic management.
methodsThis was a national retrospective study conducted in our center the CREAK network.
resultsA total of 287 patients were identified with an F12 pathogenic variant (133 families), 38 with PLG (12 families) and one patient with KNG1. Among these patients, 111 patients with HAE-FXII and 19 patients with HAE-PLG were symptomatic. More women than men were symptomatic (86.3% vs. 30.8%, respectively) (p < 0,0001). The mean age at first attack was 24 ± 12 years. 49% of patients with HAE-FXII were estrogen dependent (vs. 0% HAE-PLG, p < 0,01). 91% of patients with HAE-PLG needed to receive at least one attack of icatibant with 100% efficacy. 67% of patients with HAE-FXII were treated at least once: 56% with icatibant and 54% with C1Inh concentrate (during pregnancy). 12,6% of patients with HAE-FXII and 47,4% of patients with HAE-PLG required long-term prophylactic treatment: 66,7% of patients HAE-PLG who were taking tranexamic acid were attack-free (vs. 37,5 3% of HAE-FXII patients). 100% of patients with HAE-FXII treated with lanadelumab were completely asymptomatic (vs. 25% of patients with HAE-PLG).
conclusionHAE patients with a normal C1inh have specific clinical features, including a later age at first attack than HAE patients with a normal C1inh, high sensitivity to estrogens of HAE-FXII and the location of the HAE-PLG on the tongue. The treatments used for HAE patients with C1Inh deficiency appear to be effective and safe. Low-dose progestin-only pills are good contraceptive options.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
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.