Long-term Safety and Effectiveness of Sebetralstat: Interim Analysis of KONFIDENT-S Open-label Extension.

Background: Poor compliance with hereditary angioedema guidelines for on-demand treatment is common due to challenges with parenteral administration. Sebetralstat, an oral plasma kallikrein inhibitor, demonstrated faster times to beginning of symptom relief, reduction in attack severity, and complete resolution than placebo in the phase 3 KONFIDENT trial (NCT05259917).

Objective: This analysis evaluated long-term safety and effectiveness of sebetralstat in KONFIDENT-S (NCT05505916), an ongoing, 2-year, open-label extension study.

Unmet needs in hereditary angioedema: an international survey of physicians.

Background: Hereditary angioedema (HAE) is a rare and potentially life-threatening genetic disorder characterized by unpredictable attacks of angioedema. MENTALIST (UnMEt Needs in herediTAry angioedema-a gLobal physIcian perSpecTive) is the first international survey uncovering unmet needs and identifying barriers to optimal management in HAE following the latest update of the World Allergy Organization (WAO)/European Academy of Allergy and Clinical Immunology (EAACI) HAE guidelines.

Methods: This web-based survey comprised 24 questions on HAE management and unmet needs.

Patient-Reported Outcomes and Provider Perceptions of Systemic Mastocytosis: Results From the PRISM Study.

Background: Systemic mastocytosis (SM) is a clonal mast cell disease primarily driven by the KIT D816V mutation and often characterised by unpredictable and debilitating symptoms. The Perceptions Realities and Insights on Systemic Mastocytosis (PRISM) survey queried patient and provider perceptions of SM in Europe.

Methods: PRISM (funded by Blueprint Medicines Corporation) was composed of two independent surveys: a 119-item patient survey on diagnosis, symptom burden, quality of life (QoL) and work impact; and a 103-item healthcare provider (HCP) survey on approaches to SM diagnosis and management.

[Assessment of internship sites in Internal Medicine and Clinical Immunology, 7 years after the Residency Training Program Reform: Findings from a 2024 year-end survey in France].

Objective: To compile a list of approved training sites for the Residency Training Program [Diplôme d'Études Spécialisées] in Internal Medicine and Clinical Immunology (DES-MIIC) in France.

Method: All local coordinators of the DES-MIIC were contacted to establish the list of approved internship sites for the MIIC DES within their geographical subdivision.

Results: We listed 244 approved training sites, of which 87 (35.

Global frequency, diagnosis, and treatment of hereditary angioedema with normal C1 inhibitor.

Background: Hereditary angioedema (HAE) is a rare genetic disease, most frequently associated with deficiency or dysfunction in the C1 inhibitor protein. HAE with normal C1 inhibitor (HAE-nC1INH) lacks standardized diagnostic tests, limiting precise prevalence estimates and development of specific treatment guidelines.

Objective: This study sought to describe the global frequency, diagnostic pathway, and current treatment patterns of HAE-nC1INH.

Angiotensin-converting enzyme inhibitor-induced angioedema: Proposal for a diagnostic score.

Objective: Angiotensin-converting enzyme inhibitor (ACEI)-induced angioedema (AE-ACEI) may be life-threatening, and the treatment should therefore be discontinued. However, patients taking ACEI may also have mast cell-mediated angioedema (AE-MC). Differentiating between AE-ACEI and AE-MC in patients taking ACEI is sometimes difficult.

Immune checkpoint inhibitors-induced large vessel vasculitis: clinical characteristics and management from a European multicentre study.

Objective: Immune checkpoint inhibitors (ICIs) have revolutionized cancer treatment but frequently cause immune-related adverse events (IrAEs). ICI-induced large vessel vasculitis (LVV) is a rare IrAE, with limited available data. We aimed to describe and compare clinical characteristics and evolution of ICI-induced LVV to primary LVV.

Hereditary Angioedema with Normal C1 Inhibitor: an Updated International Consensus Paper on Diagnosis, Pathophysiology, and Treatment.

Hereditary angioedema (HAE) has been recognized for almost 150 years. The newest form of HAE, where C1 inhibitor levels are normal (HAE-nC1INH), was first described in 2000. Over the last two decades, new types of apparent non-mast cell-mediated angioedema with normal quantity and activity of C1INH have been described, in some cases with proven genetic pathogenic variants that co-segregate with angioedema expression within families.

Early diagnosis of hereditary angioedema in children: genetic testing should be prioritized.

Background: When a member of a family has been diagnosed with hereditary angioedema (HAE) before a child is born, the question of early diagnosis arises. Indeed, the first attacks may occur at birth. Early diagnosis is complicated by biological issues.

Pediatric eosinophilic fasciitis: similarities and differences with adult forms.

The purpose of this study was to identify pediatric eosinophilic fasciitis, which is an extremely rare condition, in order to describe their clinical, paraclinical, and therapeutic characteristics. We made a call for observations via societies for pediatric rheumatology in France and surrounding countries and collected clinical and paraclinical data of the cases fulfilling the diagnostic criteria. Eight patients under 18 years of age with confirmed eosinophilic fasciitis followed between April 2004 and July 2022 in France, Germany, Italy, and Spain were included.

Angioedema Due to Acquired C1-Inhibitor Deficiency Without Hematological Condition: A Multicenter French Cohort Study of 34 Patients.

Background: Angioedema (AE) due to acquired C1-inhibitor deficiency (AAE-C1-INH) is a rare disease associating recurrent edema of the mucosa and skin. Several underlying diseases have been reported, mainly lymphoproliferative diseases and monoclonal gammopathy. However, 15% to 20% of patients never exhibit such a hematological condition.

Real-World Effectiveness of Lanadelumab in Hereditary Angioedema: Multicountry INTEGRATED Observational Study.

Background: Hereditary angioedema (HAE) is a rare genetic disease characterized by recurrent episodes of cutaneous or subcutaneous edema. There is clinical need for treatments that reduce the rate of HAE attacks in patients.

Objectives: Primary objectives were to evaluate the effectiveness of lanadelumab on attack-free rate (AFR; proportion of patients who had zero HAE attacks), and of every 2-week and every 4-week adjustments on AFR.

Hereditary angioedema in children: Review and practical perspective for clinical management.

Background: Hereditary angioedema (HAE) in children has specific features and requires multidisciplinary management.

Methods: We performed a literature search and underwent in-depth discussions to provide practical tools for physicians.

Results: HAE is a rare, life-threatening genetic disorder.

Hereditary Angioedema Attacks in Patients Receiving Long-Term Prophylaxis: A Systematic Review.

Long-term prophylaxis (LTP) has been shown to reduce the frequency of hereditary angioedema (HAE) attacks; however, attacks occurring in patients receiving LTP have not been well characterized. The objective of this systematic review was to evaluate the proportion of type I/II HAE (HAE-C1INH) patients who experience attacks while receiving LTP, the characteristics of these attacks, and associated on-demand therapy use. A systematic search was conducted in PubMed to identify studies reporting LTP use with plasma-derived C1 inhibitor (pdC1INH), lanadelumab, berotralstat, androgens, or antifibrinolytics in patients with HAE-C1INH.

CRISPR-Based Therapy for Hereditary Angioedema.

Background: Hereditary angioedema is a rare genetic disease characterized by severe and unpredictable swelling attacks. NTLA-2002 is an in vivo gene-editing therapy that is based on clustered regularly interspaced short palindromic repeats (CRISPR)-CRISPR-associated protein 9. NTLA-2002 targets the gene encoding kallikrein B1 ().

[Role of university hospital doctors specialized in internal medicine in health professions training and institutions in France: Survey of the National College of Teachers of Internal Medicine (CEMI)].

Rationale: On the occasion of the General stage meeting of Internal Medicine, the National College of Internal Medicine Teachers (CEMI) conducted a survey on teaching activity among all French university hospital (HU) internal medicine specialists.

Method: The survey was carried out in September 2023 by sending an email to 101 hospital practitioners university professors (PU-PH) and 18 hospital practitioners assistant professors (MCU-PH) of internal medicine in subsection 53-01 of the National council of universities (CNU), as well as to the 11 HU internists working in immunology (subsection 47-01) or therapeutics (subsection 48-04).

Results: Seventy-three HUs (56.

Androgen transition and management of hereditary angioedema long-term prophylaxis in real life: a single-center case series.

Background: Hereditary angioedema (HAE) is a rare and potentially life-threatening disease that manifests clinically as recurrent episodes of swelling affecting multiple anatomical locations. Long-term prophylaxis (LTP) aims to control the disease by preventing HAE attacks. Previously, treatments such as attenuated androgens have been used for LTP, but they have an unfavorable adverse effect profile.