D3.309 - Challenges in HAE therapy in children

Hereditary angioedema is a rare, but potentially life-threatening disease that can severely restrict the patient's quality of life. Treatment is particularly challenging in children.

We report on a 12-year-old boy who has been suffering from HAE attacks since the age of 10. Before the initial diagnosis, the attacks were mistakenly treated with glucocorticoids. After being diagnosed in October 2023 with HAE Type 1, on-demand therapy with Icatibant (subcutaneous, weight-adapted) was initiated. Due to the increased number of attacks (including in the face, extremities, cervical swellings) and previously unsuccessful treatment attempts, the boy developed a phobia of injections. By now, he refuses the subcutaneous emergency medication. Icatibant can no longer be administered by his mother. Due to a prominent swelling in the genital area, he was last admitted to the pediatric emergency department in January 2024. The subcutaneous administration of Icatibant was only carried out by fixation of the patient. This leads to a mayor impairment of quality of life for the child as well as the parents.

When he turned 12, treatment was then initiated with long-term oral prophylaxis with Berotralstat on December 2024 (approved from the age of 12). The daily intake of tablets was well tolerated by the boy and he has had no more attacks since the first dose. His HAE is now very well controlled under long-term prophylaxis (AECT Feb. 25: 16/16, Graph 1). His quality of life has also improved (AE-QoL Feb. 25: 16/68, Graph 2).

However, the risk of a life-threatening attack and refusal of subcutaneous emergency medication remains. As no oral emergency medication is currently (as of February 2025) approved in Germany, we plan to include the patient in a compassionate use program for Sebetralstat (oral plasma kallikrein inhibitor). This will allow the patient to receive Sebetralstat 300mg in the event of an acute attack, following informed consent.

With this case we would like to emphasize that the treatment of HAE can be a major challenge, especially for children or patients with injection phobia. Further research is needed concerning oral treatments and their efficacy and safety.