Hereditary Angioedema in Childhood: A Challenging Diagnosis You Cannot Afford to Miss

Abstract

Hereditary angioedema (HAE) is a rare inherited disease that is often difficult to diagnose. We report a case of a 9-year-old boy with a spontaneous mutation causing HAE, diagnosed after a life-threatening episode of angioedema of the head and upper respiratory tract after a 5-year history of recurrent skin swellings and abdominal pain leading to several hospital admissions. The aim of this report is to direct focus on this rare disease, which can be treated effectively, to diminish morbidity and mortality of children suffering from undiagnosed HAE.

Urticaria and Prodromal Symptoms Including Erythema Marginatum in Danish Patients with Hereditary Angioedema

“…Furthermore, they reported one child being hospitalized because of presumed urticaria. In our cohort a young boy was likewise hospitalized several times with angioedema and "viral rash", "erythema multiforme" and "allergy" (17). In this particular patient EM was observed for the first time when he was only a few weeks old and several years before he had his first swelling attack.…”

WAO Guideline for the Management of Hereditary Angioedema

“…Reasons include (1) that no mutation of the C1-INH gene can be detected in 8% to 10% of cases, (2) that identical mutations may be associated with substantially different phenotypes, (3) that C1-INH mutations may cause a nonfatal manageable disease in the offspring, the severity of which cannot be predicted in advance, and (4) recent advances in therapy have significantly improved quality of life of patients with HAE [116,118,119]. …”

“…SDP is preferred over fresh frozen plasma (Figure 3), but either should be used only as second-line treatment when first-line treatment (pdC1-INH concentrate) is not available. Recombinant C1-INH, ecallantide, and icatibant are not licensed for use in children, and experience with these drugs in this patient population is very limited [116,118,119,123]. …”

Features of the complement system in children with chronic urticaria

“…У детей с данными результатами предполагалась аутоиммунная природа хронической крапивницы, патогенетические механиз-мы которой связаны с антителозависимым иммунным ответом при хроническом течении заболевания. По-вышение уровня С1inh на фоне снижения концентра-ции С4 являлось поводом для дополнительного обсле-дования пациентов и исключения «брадикининовых» ангиоотеков, в том числе и наследственных, имеющих иную патогенетическую природу и, как следствие, другую тактику лечения [16].…”