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
N1 - Publisher Copyright:
© 2017 Elsevier Inc.
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 -