Hereditary Angioedema Symposium Flashcards
Hereditary angioedema presentation?
Recurrent attacks of cutaneous and submucosal swelling
Prevalence?
Between 1:25,000-100,000
Symptoms of angiodema?
Swelling , will leave no skin deformities
Not very painful or itchy
Laryngeal oedema?
Mucosa starts swelling over vocal cords and blocks the airway.
What are the other causes?
Allergy, physical. Drug induced, spontaneous and autoimmune
Often associated with urticaria, in deeper tissue layers people get swelling attacks
What is the genetic form of HAE?
Autosomal dominant, but 20% cases are sporadic
Asymptomatic- children, mostly in older people
General features?
Attacks are in triggered, but usually with infection and surgery
Mortality rate if untreated?
10%
The cost for each attack?
£800-1200
C1q binds to?
Constant region of antibody, which activated c1r and c1s
When c1 inhibitor binds to activated c1r and c1s it causes them?
To disassociate from c1q
Pathway inhibited by C1 inhibitor
Activation to kallikrein and factor 12 a, kallikrein converts minions to bradykinin, which allows permeability and oedema
ACE inhibitors inhibit kinases causing
Bradykinin, fluid in lungs, causing cough
C1inhibitor been found?
8 Exxon’s on c11
Type 1/type 2 difference?
Type1: deletions/missense mutation in C1 inhibitor gene
Type: normal levels but doesn’t work properly, point mutation at active site
