Recurrent angioedema manifestation and treatment response in two patients from different families caring the myoferlin gene mutation: case series

Recurrent angioedema manifestation and treatment response in two patients from different families caring the myoferlin gene mutation: case series

Abstract Data on hereditary angioedema with normal C1 inhibitor levels are currently limited. To date, only one Italian family with HAE-MYOF has been described, comprising exclusively female members. The angioedema (AE) of head and neck area with the teenage onset, triggered by menses and high fever...

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Main Authors: Daria S. Fomina, Marina S. Lebedkina, Elena N. Bobrikova, Yulia D. Yukhnovskaya, Anna A. Roppelt, Olga A. Mukhina, Ulyana A. Markina, Yulia G. Alexeeva, Ekaterina A. Nikitina, Marcus Maurer, Alexander V. Karaulov, Maryana A. Lysenko, Thomas Buttgereit
Format: Article
Language:English
Published: BMC 2025-08-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Myoferlin
Hereditary angioedema
Angioedema
Online Access:https://doi.org/10.1186/s13023-025-03932-9
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https://doi.org/10.1186/s13023-025-03932-9

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