Introduction: As the medicine evolves quickly and begins to understand the patient holistically, the value of understanding every part that composes the quality of life increases. That matter is even bigger in which concern to rare diseases as Hereditary Angioedema. Lack of information, difficult access to treatment and diagnosis delays are proporcional to the burden in patients quality of life.
This study aim to measure the impacts in quality of life of Hereditary Angioedema with C1 inhibitor deficiency (C1-INH-HAE) in specialized treatment centers in Brazil. Methods: The present study is part of the National Network for Rare Diseases project. that aims to understand and measure quality of life of patients with C1-INH-HAE in Brazil. It was carried out in 7 reference centers and with 116 patients which 91 of those answered. Two questionnaires were applied for these patients. AE-QoL, where higher scores indicate higher impairment and SF-36, where higher scores indicate better quality of life. Results: Analyzing SF-36, amongst 8 domains (Physical functioning, physical role limitations, bodily pain, general health perceptions, energy/vitality, social functioning, emotional role limitations and mental health) the most affected domains were bodily pain (41,26), physical role limitations (42,68) and emotional role functioning (43,95) scored out of 100. General health perceptions had 55,16. Physical functioning was the less impaired domain (73,00) The average was 52,20.
In AE-QoL, between 4 domains (food, fears/shame, fatigue/mood and functioning) the most affected domain was fears/shame (61,62 out of 100). Food was the less impaired domain (28) and the average was 42,48. Conclusion: Studying the results, both questionnaires are in agreement since emotional aspects at SF-36 and fears/shame at AE-QoL were the most impaired domains. Thoughts like fear of asphyxia and death or not knowing when the next attack would occur are key reasons to increase the burden of the disease.