Enzyme deficiency from CPN1 gene mutations tied to HAE: Study

Mutations in the CPN1 gene leading to a deficiency in the activity of the carboxypeptidase N (CPN) enzyme were found in four families with hereditary angioedema (HAE),  according to a new study from Europe. The team of researchers identified three genetic variants in the CPN1 gene that were associated…

Rare case of HAE type 1 with stroke-like symptoms: Report

In a 39-year-old man in France, hereditary angioedema (HAE) manifested with stroke-like symptoms, including weakness on one side of the body and difficulty speaking, despite treatment with danazol, a medication normally used to prevent HAE attacks. His symptoms eventually resolved with Takhzyro (lanadelumab), an approved therapy for…

Different Genetic Mutations Have Varying Effects on C1 Inhibitor Levels, HAE Severity, Study Finds

Deletion mutations in the SERPING1 gene lead to lower function levels of the C1 inhibitor protein, which, in turn, might have a negative impact on the progression and severity of hereditary angioedema (HAE), a study reveals. The study, “Deletions in SERPING1 Lead to Lower C1 Inhibitor Function:…