Scholarlink

<p>Hereditary angioedema (HAE) has been recognized for almost 150&#xa0;years. The newest form of HAE, where C1 inhibitor levels are normal (HAE-nC1INH), was first described in 2000. Over the last two decades, new types of apparent non-mast cell–mediated angioedema with normal quantity and activity of C1INH have been described, in some cases with proven genetic pathogenic variants that co-segregate with angioedema expression within families. Like HAE due to C1INH deficiency, HAE-nC1INH patients are at risk of serious morbidity and mortality. Therefore, proactive management and treatment of HAE-nC1INH patients after an expert physician diagnosis is critically important. The underlying pathophysiology responsible for the angioedema has also been clarified in some of the HAE-nC1INH types. While several clinical guidelines and practice parameters including HAE-nC1INH have been published, we have made substantial progress in our understanding encompassing diagnostic criteria, pathophysiology, and treatment outcomes. HAE International (HAEi) and the US HAE Association (HAEA) convened a symposium of global HAE-nC1INH experts to synthesize our current knowledge in the area. Given the paucity of high-level evidence in HAE-nC1INH, all recommendations are based on expert opinion. This review and expert opinion on the best practice approach to diagnosing and treating HAE-nC1INH will support physicians to better manage patients with HAE-nC1INH.</p>

错误：搜索内容不能为空，请输入英文关键词
错误：关键词超出字数限制，请精简
高级检索

Hereditary Angioedema with Normal C1 Inhibitor: an Updated International Consensus Paper on Diagnosis, Pathophysiology, and Treatment

  • 期刊论文

  • 出版模式：

    开放获取

  • 发表日期：

    2025年3月7日

查看全文
  • Bruce L. Zuraw,
  • Konrad Bork,
  • Laurence Bouillet,
  • Sandra C. Christiansen,
  • Henriette Farkas,
  • Anastasios E. Germenis,
  • Anete S. Grumach,
  • Allen Kaplan,
  • Alberto López-Lera,
  • Markus Magerl,
  • Marc A. Riedl,
  • Adil Adatia,
  • Aleena Banerji,
  • Stephen Betschel,
  • Isabelle Boccon-Gibod,
  • Maria Bova,
  • Henrik Balle Boysen,
  • Teresa Caballero,
  • Mauro Cancian,
  • Anthony J. Castaldo,
  • Danny M. Cohn,
  • Deborah Corcoran,
  • Christian Drouet,
  • Atsushi Fukunaga,
  • Michihiro Hide,
  • Constance H. Katelaris,
  • Philip H. Li,
  • Hilary Longhurst,
  • Jonny Peter,
  • Fotis Psarros,
  • Avner Reshef,
  • Bruce Ritchie,
  • Christine N. Selva,
  • Andrea Zanichelli,
  • Marcus Maurer

摘要

Hereditary angioedema (HAE) has been recognized for almost 150 years. The newest form of HAE, where C1 inhibitor levels are normal (HAE-nC1INH), was first described in 2000. Over the last two decades, new types of apparent non-mast cell–mediated angioedema with normal quantity and activity of C1INH have been described, in some cases with proven genetic pathogenic variants that co-segregate with angioedema expression within families. Like HAE due to C1INH deficiency, HAE-nC1INH patients are at risk of serious morbidity and mortality. Therefore, proactive management and treatment of HAE-nC1INH patients after an expert physician diagnosis is critically important. The underlying pathophysiology responsible for the angioedema has also been clarified in some of the HAE-nC1INH types. While several clinical guidelines and practice parameters including HAE-nC1INH have been published, we have made substantial progress in our understanding encompassing diagnostic criteria, pathophysiology, and treatment outcomes. HAE International (HAEi) and the US HAE Association (HAEA) convened a symposium of global HAE-nC1INH experts to synthesize our current knowledge in the area. Given the paucity of high-level evidence in HAE-nC1INH, all recommendations are based on expert opinion. This review and expert opinion on the best practice approach to diagnosing and treating HAE-nC1INH will support physicians to better manage patients with HAE-nC1INH.