Hereditary Angioedema with Normal C1 Inhibitor: Update on Evaluation and Treatment

Markus Magerl; Anastasios E Germenis; Coen Maas; Marcus Maurer

doi:10.1016/j.iac.2017.04.004

Hereditary Angioedema with Normal C1 Inhibitor: Update on Evaluation and Treatment

Markus Magerl
, Anastasios E Germenis
, Coen Maas
, Marcus Maurer

Circulatory Health

Research output: Contribution to journal › Review article › peer-review

Abstract

A new form of hereditary angioedema (HAE) was identified in the year 2000. Its clinical appearance resembles HAE types I and II, which are caused by mutations that result in a deficiency of C1 inhibitor (C1-INH). In patients with the new form of HAE, C1-INH plasma levels and function values are normal, so it's termed HAE with normal C1-INH (HAE-nC1). HAE-nC1, in a subgroup of patients, is thought to be caused by mutations that affect the F12 gene. The diagnosis of HAE-nC1 is based on history and clinical criteria. There are no licensed drugs with proven treatment effects for HAE-nC1.

Original language	English
Pages (from-to)	571-584
Number of pages	14
Journal	Immunology and Allergy Clinics of North America
Volume	37
Issue number	3
DOIs	https://doi.org/10.1016/j.iac.2017.04.004
Publication status	Published - Aug 2017

Keywords

Bradykinin
C1-inhibitor
Factor XII
Hereditary angioedema
Mutation
Plasmin

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10.1016/j.iac.2017.04.004

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title = "Hereditary Angioedema with Normal C1 Inhibitor: Update on Evaluation and Treatment",

abstract = "A new form of hereditary angioedema (HAE) was identified in the year 2000. Its clinical appearance resembles HAE types I and II, which are caused by mutations that result in a deficiency of C1 inhibitor (C1-INH). In patients with the new form of HAE, C1-INH plasma levels and function values are normal, so it's termed HAE with normal C1-INH (HAE-nC1). HAE-nC1, in a subgroup of patients, is thought to be caused by mutations that affect the F12 gene. The diagnosis of HAE-nC1 is based on history and clinical criteria. There are no licensed drugs with proven treatment effects for HAE-nC1.",

keywords = "Bradykinin, C1-inhibitor, Factor XII, Hereditary angioedema, Mutation, Plasmin",

author = "Markus Magerl and Germenis, \{Anastasios E\} and Coen Maas and Marcus Maurer",

note = "Publisher Copyright: {\textcopyright} 2017 Elsevier Inc.",

year = "2017",

month = aug,

doi = "10.1016/j.iac.2017.04.004",

language = "English",

volume = "37",

pages = "571--584",

journal = "Immunology and Allergy Clinics of North America",

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publisher = "W.B. Saunders",

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TY - JOUR

T1 - Hereditary Angioedema with Normal C1 Inhibitor

T2 - Update on Evaluation and Treatment

AU - Magerl, Markus

AU - Germenis, Anastasios E

AU - Maas, Coen

AU - Maurer, Marcus

PY - 2017/8

Y1 - 2017/8

N2 - A new form of hereditary angioedema (HAE) was identified in the year 2000. Its clinical appearance resembles HAE types I and II, which are caused by mutations that result in a deficiency of C1 inhibitor (C1-INH). In patients with the new form of HAE, C1-INH plasma levels and function values are normal, so it's termed HAE with normal C1-INH (HAE-nC1). HAE-nC1, in a subgroup of patients, is thought to be caused by mutations that affect the F12 gene. The diagnosis of HAE-nC1 is based on history and clinical criteria. There are no licensed drugs with proven treatment effects for HAE-nC1.

AB - A new form of hereditary angioedema (HAE) was identified in the year 2000. Its clinical appearance resembles HAE types I and II, which are caused by mutations that result in a deficiency of C1 inhibitor (C1-INH). In patients with the new form of HAE, C1-INH plasma levels and function values are normal, so it's termed HAE with normal C1-INH (HAE-nC1). HAE-nC1, in a subgroup of patients, is thought to be caused by mutations that affect the F12 gene. The diagnosis of HAE-nC1 is based on history and clinical criteria. There are no licensed drugs with proven treatment effects for HAE-nC1.

KW - Bradykinin

KW - C1-inhibitor

KW - Factor XII

KW - Hereditary angioedema

KW - Mutation

KW - Plasmin

U2 - 10.1016/j.iac.2017.04.004

DO - 10.1016/j.iac.2017.04.004

M3 - Review article

C2 - 28687110

SN - 0889-8561

VL - 37

SP - 571

EP - 584

JO - Immunology and Allergy Clinics of North America

JF - Immunology and Allergy Clinics of North America

IS - 3

ER -

Hereditary Angioedema with Normal C1 Inhibitor: Update on Evaluation and Treatment

Abstract

Keywords

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