BackgroundHereditary angioedema with C1-inhibitor deficiency (C1-INH-HAE) is characterized by recurrent edema of unpredictable frequency and severity. Stress, anxiety, and low mood are among the triggering factors most frequently reported. Impaired regulation and processing of emotions, also known as alexithymia, may influence outcomes. The aim of this study was to confirm the presence of alexithymia and stress in children with C1-INH-HAE, to determine whether they are also present in children affected by other chronic diseases, and to investigate their relationship with C1-INH-HAE severity. Data from children with C1-INH-HAE (n = 28) from four reference centers in Italy were compared with data from children with type 1 diabetes (T1D; n = 23) and rheumatoid arthritis (RA; n = 25). Alexithymia was assessed using the Alexithymia Questionnaire for Children scale; perceived stress was assessed using the Coddington Life Event Scale for Children (CLES-C).ResultsMean age (standard deviation [SD]) in the C1-INH-HAE, T1D, and RA groups was 11.8 (3.3), 11.7 (2.9), and 11.1 (2.6) years, respectively. Mean C1-INH-HAE severity score was 5.9 (2.1), indicating moderate disease. Alexithymia scores were similar among disease groups and suggestive of difficulties in identifying and describing emotions; CLES-C scores tended to be worse in C1-INH-HAE children. C1-INH-HAE severity was found to correlate significantly and positively with alexithymia (p = 0.046), but not with perceived stress. Alexithymia correlated positively with perceived stress.ConclusionsAlexithymia is common in children with chronic diseases. In C1-INH-HAE, it may result in increased perceived stress and act as a trigger of edema attacks. Comprehensive management of C1-INH-HAE children should consider psychological factors.Electronic supplementary materialThe online version of this article (10.1186/s13023-018-0871-x) contains supplementary material, which is available to authorized users.

Hereditary angioedema due to C1 inhibitor (SERPING1) deficiency (C1-INH-HAE) is characterized by unpredictable and variable attacks of cutaneous andmucosal edema carrying amajor impact on daily life. While stress and psychological factors are usually suggested as trigger factors of HAE, they have not been sufficiently investigated. Our aim is to study, for the first time in a group of pediatric patients, the role of psychological stress and emotion regulation competence in the variability of attacks ofC1-INH-HAE. The study involved 12 children aged 6–14with a diagnosis of C1-INH-HAE [a diagnosis of C1-INH-HAE must be based on presence of 1 major (1–3) clinical criterion and 1 laboratory criterion] as well as their parents in the following: (1) a qualitative analysis of parent interviews on disease variability and (2) a quantitative evaluation of the psychological profile, perceived stress levels, and emotion regulation competence of the young patients. In the interviews, 91% of parents believe emotional and stress factors are involved in triggering C1-INH-HAE. Fifty-five percent of the young patients report a limitation in their daily activities [Child Behavior Checklist (CBCL)], 83% of them experience an above-average number of stressful events [Coddington Life Events Scale (CLES)], and 91% of them manifest deficits in recognizing and naming emotions [Alexithymia Questionnaire for Children (AQC); Level of Emotional Awareness Scale for Children (LEAS-C)]. Our data show that parents believe psychological stress to be involved in the onset of HAE attacks and children show high levels of stress and broad deficits in the emotion regulation competence. Whether stress is a trigger or a secondary effect of the disease experience, we suggest that improving patients’ emotion regulation competence may increase their resilience to stress, ultimately leading to a better management of the illness

Background and aims: In pediatrics receiving a diagnosis of a chronic condition is a matter that involves caregivers at first. Beyond the basic issues of caring for the physical condition of the ill child, how caregivers face and make sense of the disease orients and co-constructs their children’s sensemaking processes of the disease itself. The aim of this article is to explore the experience of a rare chronic illness, a pediatric case of Hereditary Angioedema (HAE) from the caregivers’ perspective. Hereditary angioedema is characterized by subcutaneous swellings that can involve internal as well as external mucosal tissues and is highly variable and unpredictable in terms of severity, frequency, and where it occurs.A qualitative narrative semiotic analysis of n. 28 maternal narratives on their children’s disease experience. Narratives were collected by an ad hoc interview on three domains of the disease experience: (A) interpretation of disease variability, (B) dialogical processes, and (C) management of the disease. Subsequently, we executed a TwoStep cluster analysis for categorical data to detect cross-sectional profiles of the maternal sensemaking processes of the disease.Results: The coding grid was built analyzing the characteristics of the narrative links that orient the connection between the elements of the experience within each domain: (A) the connection among events, for the domain of disease variability interpretation, (B) the connection between self and other, for the dialogue domain, and (C) the connection among sensemaking and actions, for the disease management domain. Results from the cluster analysis show three narrative profiles: (1) adempitive; (2) reactive; (3) dynamic.Discussion: Profiles will be discussed in light of the general conceptual framework of the Sense of Grip on the Disease (SoGoD) highlighting the importance of those sensemaking processes which, instead of relying on a coherent and closed interpretation of the disease, are characterized by a degree of tolerance for uncertainty and the unknown.

Background: Hereditary angioedema (HAE) is caused by mutations in the C1 inhibitor (C1-INH) gene Serpin Family G Member 1(SERPING1), which results in either the decreased synthesis of normal C1-INH (C1-INH‐HAE type I) or expression of unfunctional C1-INH (C1-INH‐HAE type II). In recent studies, emotional stress was reported by patients as the most common trigger factor for C1-INH‐HAE attacks. Moreover, patients reported considerable distress over the significant variability and uncertainty with which the disease manifests, in addition to the impact of physical symptoms on their overall quality of life. Objective: We did a systematic review of the literature to shed light on the advancements made in the study of how stress and psychological processes impact C1-INH‐HAE. Methods: All of the articles on C1-INH‐HAE were analyzed up to December 2019. Both medical data bases and psychological data bases were examined. The keywords (KWs) used for searching the medical and psychological data bases were the following: “hereditary angioedema,” “psychology,” “stress,” “anxiety,” and “depression.” Results: Of a total of 2549 articles on C1-INH‐HAE, 113 articles were retrieved from the literature search by using the related KWs. Twenty-one of these articles were retrieved, examined, and classified. Conclusion: Although the literature confirmed that stress may induce various physical diseases, it also warned against making simplistic statements about its incidence that did not take into account the complexity and multicausality of factors that contribute to C1-INH‐HAE expression.

The Clinical Interview on the Sense of Grip on Chronic Disease has been administered to 68 mothers of children affected by Hereditary Angioedema (C1-Inh HAE), Type 1 Diabetes (T1D), Juvenile Rheumatoid Arthritis (JRA). The objectives are to detect general features of the experience of parenting children with chronic illness as well as the specificities of this experience related to the different conditions. Four Profiles of Sense of Grip were identified: Adempitive, Controlling, Reactive, Dynamic. The Sense of Grip Interview is an effective clinical tool for understanding the characteristics of the disease in daily life, which can help clinicians to encourage family adjustment to disease.