Pediatric hereditary angioedema

Abstract

Hereditary angioedema (HAE) is a lifelong illness characterized by recurrent swelling of the skin, intestinal tract, and, ominously, the upper airway. It is caused by inadequate activity of the protein C1-inhibitor, with dysfunction in the kallikrein/bradykinin pathway underlying the clinical symptoms. In addition to the physical symptoms, patients experience significant decrements in vocational and school achievement as well as in overall quality of life. Symptoms often begin in childhood and occur by age 20 in most patients, but life-threatening attacks are uncommon in the pediatric population. The availability of new therapies has transformed the management of HAE.

International consensus on the diagnosis and management of pediatric patients with hereditary angioedema with C1 inhibitor deficiency

“…Education of patients and their family members, family physicians, and consultant specialists including pediatricians with respect to diagnosis and therapy of C1‐INH‐HAE is the cornerstone of successful management of C1‐INH‐HAE in all age groups, but especially in pediatrics (level III evidence) 14, 22, 77, 78, 79. Parents should be provided with comprehensible information on specific characteristics of C1‐INH‐HAE and on management options for all age groups at the time of diagnosis and with each follow‐up comprehensive care HAE clinic visit.…”

Hereditary Angioedema in Children — A Rare Clinical Case in the Practice of the Abdominal Surgeon

“…Число и степень тяжести приступов как правило увеличиваются к моменту поло-вого созревания [9]. У большинства пациентов манифе-стация болезни происходит в детском возрасте, однако у части, несмотря на наличие болезнь-формирующей мутации в гене, патология может не проявиться до кон-ца жизни [10,11].…”

Hereditary Angioedema Presenting as Recurrent Acute Pancreatitis

“…The median age according to several reports ranges from 6.6 to 12.5 years. 2 Approximately 90% of patients experience their first attack before age 20 years. 2 The number and severity of attacks typically increase around puberty in both genders.…”

“…2 Approximately 90% of patients experience their first attack before age 20 years. 2 The number and severity of attacks typically increase around puberty in both genders. According to 1 large series, swelling of the extremities occurs in all patients, involvement of the gastrointestinal system in 97%, and involvement of the larynx in ∼50% of the patients.…”