Introduction
Hereditary angioedema (HAE
1
) is a disease associated with
deficiency of C1-inhibitor. Deficiency is inherited in an autoso-
mal dominant manner and is due to decreased expression (Type
1 HAE) or expression of dysfunctional protein (Type 2 HAE).
In both cases the affected individuals are heterozygotes. An
important feature of both forms of hereditary angioedema is that
functional levels of C1-inhibitor are usually only 30% of nor-
mal. The reason for this value not being the expected 50% is not
entirely clear but is assumed to be due to an increased level of
C1-inhibitor consumption, or due to a translational defect, pos-
sibly due to trans-inhibition by the mutant mRNA or protein, or
other unknown mechanisms (1-4). In addition to inherited C1-
inhibitor deficiency, an acquired form exists. In most cases
acquired angioedema is caused by auto-antibodies against C1-
inhibitor, produced by a malignant B-cell clone, or generated as
a consequence of an autoimmune process. The auto-antibodies
© 2004 Schattauer GmbH, Stuttgart
Inhibition of plasma kallikrein by C1-inhibitor:
role of endothelial cells and the amino-terminal domain
of C1-inhibitor
Sriram Ravindran
1
,Thomas E. Grys
2
, Rodney A.Welch
2
, Marc Schapira
3
, Philip A. Patston
1,4
1
Department of Oral Medicine and Diagnostic Sciences, and
4
Center for Molecular Biology of Oral Diseases, College of Dentistry,
University of Illinois at Chicago, Chicago, Illinois, USA
2
Department of Medical Microbiology and Immunology, University of Wisconsin, Madison,Wisconsin, USA
3
Department of Hematology, CHUV, University of Lausanne, Switzerland
Thromb Haemost 2004; 92: 1277–83
1 μM was needed to inhibit 3 nM kallikrein.We propose that
this apparent protection from inhibition was mediated by kal-
likrein binding to the cells via the heavy chain in a high molec-
ular weight kininogen and zinc independent manner.Protection
of kallikrein from inhibition was not observed when C1-inhibi-
tor truncated in the amino-terminal domain by the StcE metal-
loproteinase was used, which suggests a novel function for this
unique domain. The requirement for high concentrations of
C1-inhibitor to fully inhibit kallikrein is consistent with the fact
that reduced levels of C1-inhibitor result in the kallikrein acti-
vation seen in angioedema.
Keywords
Coagulation inhibitors, proteases/inhibitors, endothelial cells,
contact phase
Summary
Activation of plasma prekallikein and generation of bradykinin
are responsible for the angioedema attacks observed with C1-
inhibitor deficiency. Heterozygous individuals with <50% levels
of active C1-inhibitor are susceptible to angioedema attacks
indicating a critical need for C1-inhibitor to be present at max-
imum levels to prevent unwanted prekallikrein activation.
Studies with purified proteins do not adequately explain this
observation. Therefore to investigate why reduction of C1-
inhibitor to levels seen in angioedema patients results in exces-
sive kallikrein generation we examined the effect of endothelial
cells on the inhibition of kallikrein by C1-inhibitor.Surprisingly,
it was found that a C1-inhibitor concentration of greater than
Blood Coagulation, Fibrinolysis and Cellular Haemostasis
1277
Correspondence to:
Philip Patston
Department of Oral Medicine and Diagnostic Sciences
College of Dentistry, University of Illinois at Chicago
Chicago, Illinois 60612, USA
Tel.: +1 312 996 8554, Fax: +1 312 355 2688
E-mail: patston@uic.edu
Received January 7, 2004
Accepted after resubmission September 26, 2004
Financial support:
This work was supported by National Institutes of Health Grants HL-49242
(to P.A.P.),AI-051735 and AI-20323 (to R.A.W.),and by Swiss National Science
Foundation Grant 31-36080.9 (to M.S.).
Prepublished online November 8, 2004 DOI: 10.1160/TH04-01-0008