hae day :-) May 16

hae day :-) is on May 16th each year.

Hereditary angioedema is a genetic blood & immune disorder the results in severe swelling. This swelling can resemble an anaphylactic reaction (allergies are the most common cause of angioedema) but there is a major - and important - difference. Angioedema in ellergic reactions is due to histamine, whereas hereditary angioedema results in too much bradykinin which causes the swelling. As the causes and pathways are different, typically different medications are needed to treat hereditary angioedema than what's used for allergies.

I've done some posts before - check out this past post for hae day ;-) which has more information about the condition in general and this post about treatments.

Some new information to include this year:

There are 3 types of hereditary angioedema. Most studies have focused on types 1 and 2, these are both related to C1 inhibitor and both of these types are also called C1 inhibitor deficiency. WIth type 1 there is a mutation in the SERPING1 gene which results in less C1 inhibitor being produced, for type 2 there is a mutation in the gene which results in the same amount or even more being produced, but it doesn't function properly. The 3rd type used to be called type 3 and is now known as normal C1 inhibitor hereditary angioedema (abbreviated as nC1inhHAE or some variation of that often).

Over time, more genes have been found to cause nC1inhHAE. These include mutations of the genes that encode:

Factor 12 (FXII) - this was the first in this group to be found

Plasminogen

Kininogen-1

Angiopoetin-1

These discoveries are important as getting a diagnosis of hereditary angioedema can be difficult and for those without types 1 or 2 getting access to medications is difficult plus many clinical trials only focus on types 1 and 2 as there was a clear diagnostic test. These discoveries also lead to potential drug targets.

Due to the coronavirus pandemic, the in person conference was cancelled but for those of you who would like to know more, or if you think you may have this condition or something similar (acquired angioedema for example is similar, but isn't genetic, it can be due to an autoimmune disorder or other conditions where things are produced which also ultimately lead to too much bradykinin being produced) and would like to connect with others the conference is online.

Check out https://haei.org/gc2020/

Want to help with awareness? You can log your walks and share the link with friends, there's a bit of a friendly competition between countries: https://haeday.org/hae-global-walk/