L'angio-œdème héréditaire : prévalence, profil clinique, biologique,thérapeutique et évolutif dans le service de médecine interne de l’hôpital mixte de la Wilaya de LAGHOUAT

Abstract

Abstract Introduction: Hereditary angioedema (HAE) is a rare autosomal dominant genetic disorder caused by a deficiency or dysfunction of the C1 inhibitor (C1-INH). It is characterized by recurrent episodes of subcutaneous or mucosal edema, without accompanying urticaria. Often underdiagnosed, HAE can be life-threatening when it involves the upper airways. Objective: To assess the hospital prevalence of HAE in the internal medicine department of the Mixed Hospital of Laghouat, describe its clinical, biological, therapeutic, and evolutionary features, and estimate its overall prevalence in the general population of the Laghouat region. Materials and Methods: This prospective study was conducted over 53 months (September 2020 – December 2024), and included six patients. Diagnosis was based on clinical presentation, functional and quantitative assays of C1-INH, C4 complement levels, and genetic confirmation. A structured questionnaire was used to collect clinical, biological, and follow-up data. Results: Six patients with confirmed HAE were identified, corresponding to a hospital prevalence of 0.11% (6/5363 hospitalizations) and in the general population of the Laghouat region was 0,00087 %. The mean age was 44 years (range: 10–88), with an equal gender distribution. The average age at symptom onset was 12 years (range: 2–34), and the mean diagnostic delay was 44 months (range: 3–180). All patients experienced gastrointestinal and peripheral attacks, while 83.3% also had laryngeal, facial, and genital involvement. Attacks were very frequent in 66.7% of cases and frequent in the remaining 33.3%. Severity was moderate in 66.7% and severe in 33.3%. All patients had reduced C1-INH and C4 levels, and genetic testing confirmed SERPING1 mutations. Symptomatic and prophylactic treatment (fresh frozen plasma and tranexamic acid) was administered in 66.7% of cases. No patient received targeted therapy due to unavailability, and 33.3% declined any therapeutic intervention. Outcomes were unfavorable in 66.7%, with an increased frequency of attacks; improvement or stability was observed in the remaining patients. Hospitalization was required in 66.7%, with one patient needing more than five hospitalizations per year. The impact on quality of life was moderate in 33.3%, minimal in 33.3%, and absent in 33.3%. Conclusion: HAE remains rare and likely underdiagnosed in the Laghouat region. Clinical presentation is heterogeneous, with frequent gastrointestinal and extremity involvement. Family screening has contributed to earlier diagnosis. However, the absence of specific therapies remains a major challenge. This study underscores the urgent need to ensure access to targeted treatments, develop national managementprotocols, promote family-based screening, and raise awareness among both healthcare professionals and patients