A new case has been reported of a child determined to have a new deleterious serine protease inhibitor 1 (SERPING1) gene variant, ultimately leading to hereditary angioedema (HAE).
The case, published in the Annals of Allergy, Asthma, & Immunology, had a successful outcome with prophylactic plasma-derived concentrate of C1 esterase inhibitor.
The patient was a 9-year-old boy who had a history of pediatric acute onset neuropsychiatric syndrome, febrile illnesses, and immunoglobulin (Ig) A deficiency who presented with chronic pain in the abdomen and headaches. He had no family history of angioedema, but blood tests revealed low C4 complement levels of 7 mg/dL; therefore, he underwent a workup for HAE.
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Genetic analyses showed a “likely pathogenetic” SERPING1 variant c.1481G>A (p.Arg494Gln) and low C1 esterase inhibitor protein. Immunohistochemistry showed partial IgA deficiency and he was negative for anti-IgA antibodies.
The patient was administered prophylactic plasma-derived concentrate of C1 esterase inhibitor with an excellent response and his symptoms resolved.
Hauk S, Fowler S, Hannett K, Trotto N, McGoey B, Ravell J. Type I hereditary angioedema associated with SERPING1 gene mutation. Ann Allergy Asthma Immunol. Published online November 8, 2022. doi:10.1016/j.anai.2022.08.919