Hereditary angioedema hae - Open Access .click

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Microbiota dysbiosis in hereditary angioedema patients

World Allergy Organization Journal, 2023
I have read the article titled “Throat microbiota alterations in patients with hereditary angioedema” by Wang et al (2022) with great interest. This study examined the change in throat microbiota and its association with laryngeal edema (LE) attacks and ...
Öner Özdemir
doaj +1 more source

The Genetics of Hereditary Angioedema: A Review

, 2021
Hereditary angioedema is a rare inherited disorder characterized by recurrent episodes of the accumulation of fluids outside of the blood vessels, causing rapid swelling of tissues in the hands, feet, limbs, face, intestinal tract, or airway.
Maria d\u27Apolito +14 more
core +1 more source

Novel SERPING1 Genetic Variant in Two Family Members with Hereditary Angioedema

Acta Médica Portuguesa
Hereditary angioedema is a rare, autosomal dominant, genetic disorder characterized by recurrent episodes of angioedema. Over 800 SERPING1 gene variants have been reported, and their clinical profiles and causal genetic variants are highly heterogeneous.
Sofia Cosme Ferreira +7 more
doaj +1 more source

Repercussions of Diagnostic Delay in Rare Diseases

Journal of Genetic Counseling, Volume 35, Issue 4, August 2026.
ABSTRACT Rare diseases (RDs) are often subject to diagnostic delays due to their low prevalence, clinical variability, and limited professional awareness. This scoping review aimed to map the literature on these delays, examining their clinical, emotional, and socioeconomic consequences.
Luisa Rezende Batista +5 more
wiley +1 more source

Unmet Needs in Treatment Escalation for Chronic Spontaneous Urticaria: Findings From the CURE Registry

Allergy, Volume 81, Issue 8, Page 2804-2814, August 2026.
Appropriate treatment escalation improves CSU disease control. However, only about a quarter of patients achieve a complete response, the main goal of CSU treatment. Approximately one‐third of patients clinically eligible for escalation (UCT < 12) do not receive guideline‐recommended treatment escalation and remain symptomatic on their current ...
Pavel Kolkhir +25 more
wiley +1 more source

Case report: Recurrent angioedema: Diagnosing the rare and the frequent

Frontiers in Medicine, 2022
Hereditary angiodema with normal C1 inhibitor and unknown mutation (HAE-nC1INH-UNK), an exceedingly rare subtype of HAE, appears to be often diagnosed in patients who do not have this condition, but have mast cell-mediated angioedema. Here, we report two
Thomas Buttgereit +11 more
doaj +1 more source

International Guideline on the Diagnosis and Management of Pediatric Patients With Hereditary Angioedema

Allergy, Volume 81, Issue 8, Page 2744-2774, August 2026.
ABSTRACT Hereditary angioedema (HAE) with C1 inhibitor deficiency is a rare disease characterized by unpredictable episodes of tissue swelling (angioedema), which, in most cases, occur first under the age of 18 years, and entail a significant burden of disease not only for the patients but also for their families.
Henriette Farkas +128 more
wiley +1 more source

MODERN VIEWS ON THE DIAGNOSIS AND TREATMENT OF HEREDITARY ANGIOEDEMA: THE IMPORTANCE OF TIMELY DIAGNOSIS AND FURTHER MANAGEMENT OF THE PATIENT

Proceedings of the Shevchenko Scientific Society: Medical Sciences
The review focused on managing of patients with hereditary angioedema by administering C1-INH concentrate therapy. Hereditary angioedema is an orphan disorder characterized by recurrent episodes of angioedema, usually localized to the skin/subcutaneous ...
Khrystyna Lishchuk-Yakymovych +3 more
doaj +1 more source

Survey of actual conditions of erythema marginatum as a prodromal symptom in Japanese patients with hereditary angioedema

World Allergy Organization Journal, 2021
Background: Hereditary angioedema (HAE) is a rare but life-threatening condition. HAE types I and II (HAE-1/2) result from C1-inhibitor (C1–INH) deficiency. However, recent genetic analysis has established a new type of HAE with normal C1–INH (HAEnC1-INH)
Isao Ohsawa +16 more
doaj +1 more source

The International Guideline for the Definition, Classification, Diagnosis and Management of Urticaria

Allergy, Volume 81, Issue 8, Page 2582-2632, August 2026.
ABSTRACT This update and revision of the international guideline for urticaria was developed in accordance with the methods recommended by Cochrane and the Grading of Recommendations Assessment, Development and Evaluation (GRADE) working group. It is an initiative of the Global Allergy and Asthma Excellence Network (GA2LEN) and its Urticaria and ...
Torsten Zuberbier +221 more
wiley +1 more source

hereditary angioedema
humans
3. good health

angioedema
angioedemas, hereditary
complement c1 inhibitor protein

female
adult
bradykinin