"Qualidade de Vida em Pacientes com Angioedema Hereditário: Uma Revisão Sistemática sobre o Papel dos Cuidados Paliativos"

Abstract

Hereditary Angioedema (HAE) is a rare genetic disorder, characterized by an autosomal dominant inheritance pattern. This condition results from a deficiency or dysfunction of the C1 esterase inhibitor (C1-INH). The dysregulated activation of the kinin pathway leads to an accumulation of bradykinin, a key mediator in the genesis of edema associated with HAE. In its chronic form, affected individuals experience episodes of subcutaneous and submucosal edema, which may affect various regions, including the gastrointestinal tract, limbs, face, and upper airways, potentially compromising vital functions. Furthermore, the disease imposes a considerable psychological and social burden, resulting in increased anxiety, depression, and social isolation among patients, factors that negatively impact their Quality of Life (QoL). This study proposes to investigate the perceptions of patients with HAE and the influence of this condition on their lives, as well as to discuss integrated approaches that could be implemented for these patients. The method adopted will be a systematic search in scientific literature databases, using specific terminology to identify studies exploring the relationship between HAE, QoL, and palliative care therapies. Although palliative care has traditionally been associated with oncological diseases and end-of-life stages, there is growing recognition of the relevance of these principles in debilitating chronic conditions such as Hereditary Angioedema. However, its application in such cases remains scarcely discussed, despite the increasing recognition that non-oncological chronic diseases also require appropriate attention. The development of an inclusive model would not only facilitate symptom control but also provide emotional and psychological support. Objective: To assess the impact of HAE on patients' quality of life (QoL) and explore the role of palliative care (PC) as a complementary approach. Materials and Methods: Studies published between 2001 and 2025 addressing HAE in relation to quality of life, emotional impact, psychosocial well-being, patient and caregiver experience, and palliative care were included. Studies without full-text access, focused exclusively on pharmacology, conducted in animals, or lacking empirical data were excluded.