D3.366 - Experience With Berotralstat In The First Turkish Patients

Experience With Berotralstat In The First Turkish Patients

Introduction: Hereditary angioedema (HAE) is a rare disease characterised by recurrent angioedema attacks. A marked deterioration in quality of life scores is observed, particularly in HAE patients who experience frequent attacks. In recent years, new therapeutic agents have been developed with the aim of reducing the number of attacks and improving quality of life scores in HAE. In this case report, we present two patients, aged 14 and 19, diagnosed with HAE who were started on berotralstat therapy for long-term prophylaxis (LTP).

Case 1: A 14-year-old male patient was diagnosed with HAE 6 years ago. The patient complained of an increase in attack frequency (particularly genitourinary and extremity attacks), especially in the last 2-3 years, which had led to increased school absenteeism and negatively affected his quality of life (angioedema quality of life score (AEQoL): 57). The tranexamic acid treatment initiated for the patient for long-term prophylaxis had been ineffective. As the patient was in adolescence, danazol therapy could not be administered; therefore, berotralstat was initiated at a dose of 150 mg/day for LTP purposes. Our patient has been using berotralstat for 9 months and has shown a significant decrease in attack frequency (1 attack/month), a decrease in school absenteeism/increase in school performance, and a significant improvement in the angioedema AEQoL (AEQoL: 10). No side effects of the drug have been observed in our patient at this stage.

Case 2: 19-year-old female patient. Diagnosed with HAE at age 5. Tranexamic acid treatment was initiated for LTP, particularly due to increased attack frequency (extremity, head, and neck attacks occurring every 3 days) in the last year; however, no response was obtained. Danazol treatment could not be administered due to the patient's young age and female gender. The patient's AEQoL was 50. Berotralstat 150 mg/day was initiated for LTP. Our patient has been using berotralstat treatment for 1 month, and the number of attacks in the last month was 3. Our patient's AEQoL was found to be 26, and no drug-related side effects have developed yet.

Discussion: Recurrent angioedema attacks can cause difficulties in work and school life, limitations in physical activities, and difficulties in family and social life. Minimising the frequency and severity of attacks, improving quality of life, and enabling patients to lead a normal life are the primary goals of HAE treatment. In recent years, new treatments specific to HAE with different mechanisms of action and routes of administration, and improved efficacy/safety profiles have been developed and continue to be developed. Considering the disease burden in HAE patients, it is of great importance to achieve a personalised treatment approach for all patients.