D2.339 - Hereditary Angioedema Burden: Impact on Quality of Life, Disease Management, and Sleep Health

Hereditary Angioedema (HAE) is a rare genetic disorder that, while uncommon, is present in Ecuador. This study aims to describe the clinical characteristics of an Ecuadorian HAE population and evaluate the prevalence of sleep disorders, providing insights into their potential impact on disease management.

Cross-sectional study in 34 patients from 13 different Ecuadorian families. Demographic data and clinically important information were collected using PROMS (AECT, AE-QoL, HAE-AS). A screening for sleep disorders was performed through GSAQ, SATED and STOP-BANG, as well as an evaluation of mental health (HADS).

Most patients were female (56%), population mean age was 34.7 (18.06). The most prevalent type of angioedema was type 2 (85%), most frequent locations for attacks included G.I tract (86%) and extremities (71%). Most frequently reported trigger was stress (59%) followed by trauma (56%). Only 29% reported using long-term prophylaxis exclusively with androgens, and the most common on-demand treatment was corticosteroids (36%). Overall, 74% reported impaired QoL and 59% uncontrolled disease. Only 33% of patients (77.7%) had a “Good quality” sleep. Insomnia had a prevalence of 52% followed by OSA 44% and RLS/PMLD 30%. Insomnia and OSA were most common in patients with uncontrolled disease. Finally, 41% of patients presented with anxiety.

This study reveals a high burden of HAE in Ecuador, with most patients reporting impaired quality of life, and prevalent sleep disorders such as insomnia and OSA. These findings emphasize the need for integrated care addressing both HAE management and associated sleep and mental health issues.