Health‐related quality of life among children with hereditary angioedema

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Hereditary angioedema with C1‐inhibitor deficiency (C1‐INH‐HAE) is a rare autosomal dominant disease estimated to affect one individual per 50,000, with a reported prevalence of 1:10,000–1:150,000 1. C1‐INH‐HAE is associated with either a quantitative (Type 1) or qualitative (Type 2) deficiency of C1‐esterase inhibitor. Patients with C1‐INH‐HAE experience recurrent, unpredictable attacks of edema primarily affecting the skin, intestinal tract, and upper airways. These sudden attacks and the cutaneous and/or mucosal swellings may be painful, disfiguring, or even life‐threatening in the case of laryngeal involvement. The angioedema results from excessive production of bradykinin, a potent vasodilator mediator. Attacks typically develop and resolve slowly, lasting 2–5 days. Clinical expression is variable with rare individuals carrying causative mutations but remaining asymptomatic, and other patients experiencing frequent attacks with a wide range of disabling symptoms, severe pain, or disfigurement 3.
The onset of C1‐INH‐HAE symptoms is variable. Reports note that C1‐INH‐HAE manifests in the first or second decade of life, mainly during the age range of 4–11 years 5. Although fatal attacks are rare in childhood, life‐threatening attacks have been reported even in young children 7. Moreover, early onset of symptoms and frequent attacks in childhood predict more severe disease in adulthood 5.
The clinical expressions of C1‐INH‐HAE and its related burden may negatively affect the patients’ quality of life (QoL). Evidence of the effect of C1‐INH‐HAE or its treatment on health‐related QoL (HRQoL) in adults has been investigated using generic instruments 9. These studies indicate that adult patients with C1‐INH‐HAE have diminished QoL in the physical and psychologic domains 13. Recently, Prior et al., 3 who developed a disease‐specific QoL questionnaire for adult patients with C1‐INH‐HAE, reported the negative impacts of the disease on the person's physical, social, and emotional HRQoL. Until now, only one study 15 has partially addressed the question of QoL in children with the condition. That study, which involved all 36 Swedish children aged 1–17 years with C1‐INH‐HAE, undertook a parental assessment of the child's QoL in the preceding week using a single‐item seven‐step visual analog scale (VAS) for facial expressions.
As disease symptoms in childhood may continue into adulthood and impact the growing child 16, it is important to refer to various aspects of the HRQoL of children with C1‐INH‐HAE. This information may optimize intervention outcomes, and the development and well‐being of children with C1‐INH‐HAE. Hence, profiling HRQoL should adopt a broad perspective that includes physical health, psychologic state, independence, social relationships, and the child's perception of environmental influences on his/her HRQoL 17. Based on the above, the aims of this study were to (i) compare the HRQoL of children with C1‐INH‐HAE and healthy controls using the PedsQL™ 4.0 questionnaire based on child self‐reports regarding the previous month; (ii) examine the relationship between HRQoL, as reported by the children, and disease activity as expressed by the number of attacks and the type of attacks in the previous 12 months; and (iii) compare HRQoL reports between C1‐INH‐HAE patients and their mothers as reported in the PedsQL™ 4.0 questionnaire parent proxy‐report forms.

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