A rare genetic disorder causing recurring episodes of severe swelling in the skin and mucous membranes.
✦ AI summary
Research and community sources describe hereditary angioedema (HAE) as a rare inherited condition that causes unpredictable episodes of swelling, which can be life-threatening if the throat is affected [5]. People with the more common form caused by C1-inhibitor deficiency tend to have earlier onset and diagnosis, and studies suggest they report better coping and quality of life compared with people who have other angioedema subtypes (like factor 12-related or unknown-cause angioedema), though attack triggers differ across groups [3]. On the treatment side, a new oral on-demand medicine called sebetralstat (brand name Ekterly) has recently become the first FDA-approved oral option for treating attacks as they happen [12], and a study following patients already on long-term preventive treatments found that adding sebetralstat for breakthrough attacks led to fairly fast symptom relief, with median times of about 1.3 hours to start feeling better and under a day for attacks to fully resolve, with no serious safety concerns reported [1]. Separately, because patients have described frightening and sometimes traumatic experiences in emergency care during severe attacks, researchers have also tested short training videos to help healthcare workers respond more quickly and supportively, with early results sugges
This is an AI-generated summary of the sources below — not medical advice. Always talk to a doctor or pharmacist about your own situation.
Sudden swellingAbdominal painSwelling of throatFatigueSkin tinglingNausea
Sebetralstat for breakthrough attacks in patients with hereditary angioedema receiving long-term prophylaxis in KONFIDENT-S.
Although long-term prophylaxis (LTP) reduces attack frequency in hereditary angioedema, patients may experience breakthrough attacks. Oral sebetralstat demonstrated favorable safety and efficacy compared with placebo in the randomized phase 3 KONFIDENT trial (NCT05259917), including in patients rece…
Clinical expressions, disease course, quality of life, and resilience in subgroups of patients with angioedema.
Patients with angioedema caused by C1INH deficiency (HAE-C1INH) experience recurrent episodes of unpredictable swelling. Recently, new genetic variants have been identified, whereas patients with unknown causes and no identifiable genetic mutations constitute a distinct subgroup. As a lifelong condi…
Improving capability, opportunity and motivation to support hereditary angioedema patients experiencing life threatening attacks: Pilot evaluation of a video-based training tool for healthcare professionals.
Hereditary angioedema (HAE) is a rare inherited illness which causes swelling and can be life-threatening without urgent treatment. Patients who experience life-threatening throat swellings report poor emergency care experiences and long-term psychological distress from these encounters. A > 5-min v…
Design, synthesis, and quantitative structure-activity modeling of indole-3-pyrimidine hydrazone derivatives as novel antifungal agents.
Fungicides remain the primary approach for preventing and controlling agricultural and forestry fungal diseases. However, the inevitable emergence of antifungal drug resistance in plant pathogenic fungi necessitates novel multi-target fungicides. A series of novel indole-3-pyrimidine hydrazones were…
Skin involvement in the catastrophic antiphospholipid syndrome: A review from CAPS registry.
ObjectiveTo describe the prevalence, clinical manifestations, histopathological features, and antibody profile associated to skin involvement in patients with catastrophic antiphospholipid syndrome (CAPS).MethodsWe performed a cross-sectional study of the patients included in the "CAPS Registry," a…
Multimodal imaging evaluation of pre-systemic sclerosis patients presenting with Raynaud's Phenomenon from a reference microcirculatory clinic versus healthy controls: a cross-sectional study.
To determine whether multimodal imaging tools can detect dermal and microvascular abnormalities in pre-systemic sclerosis (pre-SSc) patients compared with matched healthy controls (HC). Non-selected pre-SSc patients (n = 20, fulfilling LeRoy's criteria) from the Ghent University (hospital) Raynaud's…
Long-term prophylaxis in hereditary angioedema: Real-world treatment patterns and healthcare resource utilization.
Multiple non-androgen long-term prophylaxis (LTP) therapies have been approved in the United States to prevent hereditary angioedema (HAE) attacks. Real-world data on treatment compliance, healthcare resource utilization (HRU), and costs in this population are limited. Assess LTP treatment patterns,…
Hereditary angioedema attack trends among patients maintained on lanadelumab long-term prophylaxis.
Longitudinal studies using real-world data are needed to assess the effectiveness of long-term prophylaxis (LTP) for hereditary angioedema (HAE) during successive years of treatment. This United States-based retrospective analysis assessed the longitudinal effectiveness of lanadelumab LTP on attack…