Orphanet Journal of Rare Diseases | Association Between Emotional Dysregulation and Alexithymia in Adult Patients with Hereditary Angioedema

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This study reveals the relationship between alexithymia and emotion regulation ability, depressive symptoms, and quality of life in patients with hereditary angioedema (HAE), suggesting that emotion regulation interventions may improve patients' psychological well-being.

 

Literature Overview

The article titled 'Is hereditary angioedema associated with deficits in emotion regulation? A quantitative study in adult patients,' published in Orphanet Journal of Rare Diseases, reviews and summarizes the emotion regulation characteristics of 39 adult French patients with hereditary angioedema (HAE), focusing on the prevalence of alexithymia and its associations with emotion regulation skills, psychological distress, and quality of life. The study found that although the proportion of patients with clear alexithymia is low, it is significantly associated with poorer emotion regulation ability, greater difficulties in emotion regulation, and more severe depressive symptoms. Additionally, alexithymia is linked to reduced quality of life in the fatigue/emotional domain. The study further reveals that perceived overprotection by the father is associated with impaired emotion regulation ability. These findings suggest that psychological interventions should focus on emotion regulation training to improve psychological adaptation and quality of life.

Background Knowledge

Hereditary angioedema (HAE) is a rare autosomal dominant disorder primarily caused by mutations in the C1 inhibitor (C1INH) gene (SERPING1), leading to excessive bradykinin production and recurrent episodes of subcutaneous or submucosal edema that may affect the skin, gastrointestinal tract, or upper airway, potentially resulting in fatal asphyxiation. In recent years, the use of kallikrein inhibitors (e.g., lanadelumab, berotralstat) has significantly reduced the frequency of acute HAE attacks and improved patients' quality of life. However, HAE not only affects physical health but also imposes a significant psychological burden. Patients often report emotional factors (e.g., anxiety, stress) as triggers, and the disease itself causes ongoing psychological stress. Emotion regulation refers to an individual's ability to monitor, evaluate, and modify the generation, experience, and expression of emotions, with core components including emotion identification, acceptance, understanding, and flexibility in regulation strategies. Alexithymia is a personality trait characterized by difficulty identifying and describing one's own emotions, externally oriented thinking, and lack of imagination, often associated with emotional dysregulation, depression, and anxiety. Previous studies have shown higher levels of alexithymia in children with HAE, but data in adults are limited. This study fills this gap by systematically evaluating emotion regulation characteristics in French adult HAE patients, exploring associations with psychological symptoms and quality of life, and examining the influence of early parent-child relationships, providing a theoretical basis for psychological interventions.

 

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Methods and Experiment

This single-center observational study included 39 adult HAE-C1INH patients (aged 18 or older) with biological confirmation, who completed multiple self-report questionnaires during follow-up at Lille University Hospital. Key assessment tools included: the 20-item Toronto Alexithymia Scale (TAS-20) to evaluate alexithymia levels; the Hospital Anxiety and Depression Scale (HADS) to screen for anxiety and depressive symptoms; the Angioedema Quality of Life Questionnaire (AE-QoL) to assess quality of life; the Emotion Regulation Skills Questionnaire (ERSQ) and the 16-item Difficulties in Emotion Regulation Scale (DERS-16) to assess emotion regulation skills and difficulties, respectively; and the Parental Bonding Instrument (PBI) to evaluate perceived parenting styles during childhood. Spearman correlation analyses were used to assess associations between variables, and differences between patients using kallikrein inhibitors and those on other treatments were compared.

Key Findings and Insights

• 39.5% of HAE patients had no alexithymia, 36.8% had definite alexithymia, and 23.7% had possible alexithymia
• Total alexithymia score was significantly negatively correlated with overall emotion regulation skills, particularly strongest with emotion understanding, clarity, and acceptance
• Alexithymia was significantly positively correlated with difficulties in emotion regulation, especially in impulse control and emotional clarity dimensions
• Alexithymia showed a moderate positive correlation with depressive symptoms but no significant association with anxiety symptoms
• Alexithymia was significantly associated with the fatigue/emotional dimension of quality of life, indicating its impact on subjective well-being
• Perceived paternal overprotection was negatively correlated with awareness, understanding, and tolerance dimensions of emotion regulation skills
• Patients using kallikrein inhibitors showed slightly higher emotion regulation skills, though the difference was not statistically significant

Significance and Outlook

This study is the first to systematically evaluate alexithymia and emotion regulation characteristics in French adult HAE patients, finding that despite a relatively low prevalence of definite alexithymia, it is closely linked to deficits in emotion regulation and depressive symptoms, suggesting that psychological interventions should focus on training in emotion identification and expression. The findings support incorporating emotion regulation into the comprehensive management of HAE, especially for patients at higher risk of depression. Future studies could expand sample sizes and adopt longitudinal designs to explore the potential benefits of emotion regulation training on psychological status and disease control in HAE patients. Additionally, the influence of family environment on the development of emotion regulation should be further investigated to inform early psychological support.

 

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Conclusion

This study systematically evaluated the emotion regulation characteristics of adult hereditary angioedema (HAE) patients and found that although alexithymia is not universal in this population, it is significantly associated with reduced emotion regulation ability, increased depressive symptoms, and diminished quality of life. Although most patients do not meet the criteria for definite alexithymia, nearly 40% exhibit this trait, suggesting that clinicians should pay attention to patients' ability to identify and express emotions. The study further reveals that deficits in emotion regulation skills are not only related to psychological distress but also influenced by early family environments (e.g., paternal overprotection), highlighting the importance of psychosocial factors in HAE management. Although kallikrein inhibitors did not significantly improve alexithymia or emotion regulation levels, a trend suggests a potential positive impact on emotion regulation skills, warranting further investigation. Overall, the study supports integrating psychological assessment and intervention into the comprehensive management of HAE, helping patients better cope with the psychological challenges of the disease by enhancing emotion regulation abilities, thereby improving long-term outcomes and quality of life. Future research should conduct intervention trials to validate the practical effectiveness of emotion regulation training.

 

Christelle Duprez, Véronique Christophe, Isabelle Citerne, Sébastien Sanges, and David Launay. Is hereditary angioedema associated with deficits in emotion regulation? A quantitative study in adult patients. Orphanet Journal of Rare Diseases.