A Cross-Sectional Study of Quality of Life in Patients Enrolled in the Romanian Hereditary Angioedema Registry

Hereditary angioedema (HAE) is a rare potentially life-threatening genetic disorder characterized by recurrent episodes of angioedema without wheals that can affect any part of the body. The unpredictability of the attacks and the risk of passing the disease to the offspring result in significant physical and emotional burdens for patients, with a negative impact on quality of life. Data about the health-related quality of life in HAE patients from Romania are scarce. This study aimed to evaluate the disease-specific quality of life in patients with HAE from Romania and to determine associated factors.

The study included adult patients with HAE enrolled in the Romanian HAE Registry. Disease-specific quality of life was measured using the Hereditary Angioedema Quality of Life questionnaire, a cross-culturally adapted, internationally validated structured survey.

The survey was completed by 94 patients (64.9% females; 35.1% males). The mean age of the participants was 44.9 years (SD 14.1). Most patients (88.3%) had type I HAE and were from urban areas (63.8%). The mean ages at symptom onset and diagnosis were 15.1 (SD 11.1) and 36.1 (SD 14.1) years, respectively. The mean diagnosis delay was 20.5 years (SD 14.2). In the evaluated period, all patients had at least one vial of on-demand treatment at home, and 10 were on long-term prophylaxis treatment. The general and dimensional quality of life scores were slightly above the median values of the reference scales. While the general score was not associated with sex or residence, a statistically significant, negative, weak correlation was detected with diagnostic delay.

The results suggest that despite the availability of on-demand treatment for all patients, there is a need for other diagnostic and therapeutic interventions to improve the management of the disease and the quality of life for HAE patients from Romania.