Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1016/j.anai.2018.05.031 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Case Report: Early presentation of hereditary angioedema symptoms in a 2-year-old boy.
Front Pediatr
June 2024
Department of Immunology and Allergology, Medical Academy, Lithuanian University of Health Sciences, Kaunas, Lithuania.
Hereditary angioedema (HAE) is a rare autosomal-dominant disease that is caused by a deficiency (type I) or dysfunction (type II) of the C1 inhibitor (C1-INH) due to a mutation in the gene, which codes for C1-INH. HAE with quantitatively and qualitatively normal C1-INH (type III) is often caused by a mutation in the gene and no mutations in the gene and is a group of very rare diseases. The C1 esterase inhibitor (C1-INH) is a major regulator of critical enzymes that are implicated in the cascades of bradykinin generation, which increases vascular permeability and allows the flow of fluids into the extracellular space, resulting in angioedema.
View Article and Find Full Text PDFSystemic inflammation biomarkers during angioedema attacks in hereditary angioedema.
Front Immunol
July 2024
Department of Allergy, Hospital Universitari Vall d'Hebron, Barcelona, Spain.
Article Synopsis
- Hereditary angioedema (HAE) is a rare disorder that causes localized swelling due to an increase in bradykinin, but the impact of inflammation during attacks hasn't been well-studied.
- Researchers analyzed blood samples from 78 HAE patients during both symptom-free periods and active attack phases, measuring inflammatory markers like serum amyloid A (SAA), erythrocyte sedimentation rate (ESR), and D-Dimer.
- Findings showed that during attacks, 88% of patients had elevated SAA, 65% had increased ESR, and 71% showed higher D-Dimer levels, suggesting a significant inflammatory response during HAE attacks compared to baseline levels.
Hereditary Angioedema: Diagnosis, Clinical Implications, and Pathophysiology.
Adv Ther
March 2023
Department of Anesthesiology, Louisiana State University Health Science Center at Shreveport, 1501 Kings Highway, Shreveport, LA, 71103, USA.
Hereditary angioedema (HAE) is an autosomal dominant disorder caused by a mutation in the C1 esterase inhibitor gene. HAE affects 1/50,000 people worldwide. Three main types of HAE exist: type I, type II, and type III.
View Article and Find Full Text PDFPhenotypic and Genotypic Characterization of Hereditary Angioedema in Saudi Arabia.
J Clin Immunol
February 2023
Translational Genomics Department, Centre for Genomic Medicine, King Faisal Specialist Hospital & Research Centre, MBC 3, P.O. Box 3354, Riyadh, 11211, Saudi Arabia.
Hereditary angioedema (HAE) is a potentially life-threatening autosomal dominant disorder affecting roughly 1:50,000 individuals. It is commonly characterized by swelling of the larynx, gastrointestinal tract, extremities, and skin. There is growing genetic heterogeneity associated with this disease but more than 95% of mutations are found in SERPING1, the gene which encodes complement 1 inhibitor (C1-INH).
View Article and Find Full Text PDFA catalog of the genetic causes of hereditary angioedema in the Canary Islands (Spain).
Front Immunol
October 2022
Research Unit, Hospital Universitario Nuestra Señora de Candelaria, Santa Cruz de Tenerife, Spain.
Hereditary angioedema (HAE) is a rare disease where known causes involve C1 inhibitor dysfunction or dysregulation of the kinin cascade. The updated HAE management guidelines recommend performing genetic tests to reach a precise diagnosis. Unfortunately, genetic tests are still uncommon in the diagnosis routine.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!