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Hereditary angioedema (HAE) is a rare autosomal dominant genetic disease characterized by repetitive subcutaneous or submucosal angioedema, activation of the kinin system, and increased vascular permeability. C1-inhibitor (C1-INH) deficiency, the main mechanism of HAE pathogenesis, occurs when abnormal activation of plasma kallikrein, bradykinin, and factor XII, or mutation of genes such as SERPING1 cause quantitative or functional C1-INH defects. Although androgens are not approved for HAE treatment in many countries, they are widely used in China and Brazil to reduce the frequency and severity of HAE attacks. The long-term adverse effects of androgen treatment are concerning for both physicians and patients. Virilization, weight gain, acne, hirsutism, liver damage, headache, myalgia, hematuria, menstrual disorders, diminished libido, arterial hypertension, dyslipidemia, and anxiety/depression are commonly observed during long-term treatment with androgens. These adverse effects can affect the quality of life of HAE patients and often lead to treatment interruption, especially in women and children. In-depth studies of the pathogenesis of HAE have led to the approval of alternative treatment strategies, including plasma-derived C1 inhibitor, recombinant human C1 inhibitor, plasma Kallikrein inhibitor (ecallantide; lanadelumab), and bradykinin B2 receptor antagonist (icatibant), some of which have achieved satisfactory results with mostly non-serious side effects. Therefore, a new standard of medical care may expand possibilities for the management of HAE in emerging countries.
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http://dx.doi.org/10.1186/s13023-022-02536-x | DOI Listing |
Front Allergy
August 2025
Internal Medicine, George Emil Palade University of Medicine, Pharmacy, Science, and Technology of Targu Mures, Targu Mures, Romania.
Introduction: In the majority of patients with hereditary angioedema (HAE) due to C1-inhibitor deficiency (HAE-C1INH), effective long-term prophylactic (LTP) treatment can achieve complete disease control. Lanadelumab is one of the first-line option recommended for this purpose. Our study aimed to evaluate changes in disease control, quality of life, and attack frequency among Romanian HAE-C1INH patients, during the first year of treatment with lanadelumab.
View Article and Find Full Text PDFJ Clin Pharmacol
September 2025
CSL Behring LLC, King of Prussia, PA, USA.
Garadacimab is a novel, fully human, anti-activated factor XII monoclonal antibody approved for long-term prophylaxis of patients with hereditary angioedema. This open-label, parallel-group, Phase 1, single-center, bridging study in healthy adults (18-55 years of age) characterized the pharmacokinetics and safety of a single 200 mg subcutaneous injection of garadacimab administered via autoinjector/pre-filled pen (AI/PFP) compared with the pre-filled syringe (PFS) used in previous studies. The aim of the study was to bridge the understanding of the PK and safety of garadacimab between PFS and AI/PFP modes of administration.
View Article and Find Full Text PDFJ Allergy Clin Immunol Pract
September 2025
Department of Clinical Immunology, Centro Universitario Faculdade de Medicina do ABC, Santo André, SP, Brazil.
Background: Hereditary angioedema (HAE) is a rare autosomal dominant disorder with a prevalence of 1:50,000 individuals. Delayed diagnosis and deaths from asphyxia still occur.
Objective: To identify knowledge and management gaps regarding clinical, genetic, and therapeutic aspects of HAE in Brazil, aiming to improve patient care and outcomes.
Curr Opin Immunol
September 2025
Univ. Grenoble Alpes, CNRS, CEA, UMR5075, IBS, Laboratoire d'Immunologie, CHU Grenoble Alpes, 38000 Grenoble, France.
C1 Inhibitor (C1INH) is a crucial regulator of multiple plasmatic pathways, including complement, coagulation, kallikrein-kinin systems, and fibrinolysis. C1INH deficiency results in the downstream overproduction of the vasoactive peptide bradykinin (BK), the primary mediator of angioedema (AE), a rare disease characterized by unpredictable attacks of swelling in various locations of the body. C1INH deficiency can be hereditary (caused by a mutation in SERPING1 gene) or acquired (frequently underlying lymphoproliferative disease); C1INH level and functional assays are the golden standard for biological diagnosis of C1INH deficiency.
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