D2.478 - HEREDITORY ANGIOEDEMA - A case report

INTRODUCTION: With an estimated universal prevalence of Hereditary angioedema (HAE) being 1: 10,000 to 1: 50,000 I will present only a known confirmed case from the state of Goa in India, having a population of 1.5 million.

CASE PRESENTATION: An 11-year-old male child was presented with repeated episodes of lip and eyelid swelling, which gradually increased over 2 to 3 days and then slowly decreased over the next 3 days, ever since he was 2 years of age. 2/3 such similar episodes used to occur every year and subside on their own. No H/O severe episode of laryngeal oedema or breathlessness. He also had yearly 2/3 episodes of abdominal angioedema with pain in the abdomen lasting for 2/3 days over a few years. For one such episode in 2022, the child was admitted and managed conservatively as a case of Acute Abdomen.

INVESTIGATIONS: Serum C4 & C1 Esterase Inhibitor were below normal. The report of the genetic test is awaited. FAMILY SCREENING: is being asked.

MANAGEMENT: A written management plan was given with on-demand treatment with C1 INH Concentrate for every episode. Alternative plan of Fresh Frozen Plasma was also given, as availability can be an issue for C1 INH concentrate.

Because of frequent episodes, it was decided to keep this child on long-term prophylaxis. Tab Tranexamic acid was advised since oral Berotralstat or s.c. Lanadelumab or s.c. (pd) C1-INH was not available.  Was advised to avoid ACE inhibitors and other potential triggers like infection or injury.  A short-term prophylaxis plan was also given, and the prognosis was explained. Parents have also joined the national support group.