Fomina Daria S, Lebedkina Marina S, Bobrikova Elena N, Yukhnovskaya Yulia D, Roppelt Anna A, Mukhina Olga A, Markina Ulyana A, Alexeeva Yulia G, Nikitina Ekaterina A, Maurer Marcus, Karaulov Alexander V, Lysenko Maryana A, Buttgereit Thomas
GA2LEN Angioedema Center of Reference and Excellence (ACARE), Moscow Research and Clinical Center of Allergy and Immunology, Moscow Healthcare Department, City Clinical Hospital 52, Moscow, Russia.
Department of Clinical Immunology and Allergy, The First Sechenov State Medical University, Moscow, Russia.
Orphanet J Rare Dis. 2025 Aug 12;20(1):424. doi: 10.1186/s13023-025-03932-9.
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 episodes were identified. It is necessary to search for potential biomarkers in patients with HAE-MYOF. This case series reports two unrelated individuals from different families with symptoms onset of recurrent AE and identified myoferlin gene mutations. Due to limited knowledge about the clinical presentation, pathogenesis, and treatment response in HAE-MYOF, further data collection is essential.
目前，关于C1抑制剂水平正常的遗传性血管性水肿的数据有限。迄今为止，仅描述了一个患有HAE-MYOF的意大利家族，全部由女性成员组成。该家族成员在青少年期出现由月经和高热发作引发的头颈部血管性水肿（AE）。有必要在HAE-MYOF患者中寻找潜在的生物标志物。本病例系列报告了来自不同家族的两名无关个体，他们出现复发性AE症状并检测到肌铁蛋白基因突变。由于对HAE-MYOF的临床表现、发病机制和治疗反应了解有限，进一步收集数据至关重要。
