Angiœdème bradykinique héréditaire : à propos d’un cas homozygote décrit au Niger et revue de la littérature

Abstract

Hereditary angioedema (HAE) is a rare, potentially serious disease. It is a pathology characterized by the occurrence of recurrent, localized subcutaneous or submucosal edemas, without associated urticaria, lasting between twenty-four (24) and seventy-two (72) hours. It disappears without leaving behind and can reoffend. It is an autosomal dominant disease that results from a hereditary deficiency of C1 inhibitory function. The gene encoding C1-inh (SERPING 1) was located on chromosome 11 (11q12-q13.1). Our work is a clinical case study with review of the literature about a case of hereditary bradykinic angioedema registered in the Dermato-allergology department of the Amirou Boubacar Diallo National Hospital. The case report is a 37-year-old women with a history of chronic lupus erythematosus referred from the ORL department for an allergic assessment of facial edema. Her clinical history reports several episodes of angioedema of the face, extremities of the members occurring sporadically and which last on average 48 to 72hours sometimes accompanied by digestive disorders and Quincke's edema. His blood and genetic tests reported a quantitative and qualitative deficit in C1 inhibitor, a lowered level of C4 complement and a homozygous mutation in the SERPING1 gene that led to the diagnosis of hereditary bradykinic angioedema type I. In conclusion, hereditary bradykinic angioedema is a rare disease that may be underestimated because of its lack of knowledge by many practitioners. The clinical picture is often misleading, morbimortality is linked to the involvement of the upper airways and abdominal attacks. The diagnosis is based on the exploration of the complement system.