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Hereditary angioedema
Make it clearer
Hereditary angioedema is a disease inherited in an autosomal dominant pattern, meaning that receiving the altered gene from one parent is enough. The problem lies in a protein called C1 inhibitor: either it is missing, or it is present but does not work.
That protein is a wide reaching brake. It blocks several proteases, enzymes that cut other proteins, both in complement, a part of the immune system, and in what is called the contact system. When C1 inhibitor is missing, those enzymes are left unchecked. The defect comes from the SERPING1 gene.
The mediator that swells the tissue here has a name of its own: bradykinin. And this is not an academic detail, because other types of angioedema may be mediated by histamine or by other mechanisms. C1 inhibitor is a brake shared by several cascades: when it is missing, the one that fires here is bradykinin.
In brief
Hereditary angioedema is an autosomal dominant disease caused by a lack of C1 inhibitor or by a dysfunctional C1 inhibitor.
C1 inhibitor holds back proteases of the complement and contact systems, and its deficiency comes from mutations in the SERPING1 gene.
This angioedema is bradykinin mediated, whereas other forms of angioedema may be mediated by histamine or by other mechanisms.
C1 inhibitor is a brake shared by several cascades: when it is missing, the one that fires here is bradykinin.
Sources (1)
- National Center for Biotechnology Information, StatPearls PublishingHereditary Angioedema, StatPearlsPublished
This page explains the topic in general terms; it does not tell anyone what treatment to follow.
Updated