[CIS PIDD] Angioedema in CVID

[Sullivan, Kathleen]

Hi all-
Appreciate any thoughts.

15 year old boy who has CVID-specific antibody deficiency.  He doesn't quite fulfill the diagnosis for CVID (low IgG only and poor vaccine responses).  He was diagnosed about 4 years ago and has been on immunoglobulin replacement ever since.  He did quite well until a year ago when he started developing angioedema.  The episodes are ALWAYS head and neck.  He does have an allergic disposition and has had a few episodes of hives in his life and has required an inhaler for asthma since a young age but his allergies have not been a big deal.

This angioedema is a HUGE deal.  Starting a year ago, he has had angioedema over half the days and has been in the ICU multiple times.

Here is what we know:

Labs:

Normal functional C1 esterase inhibitor
Normal serial tryptases
Normal eosinophil count
Normal thyroid studies

Clinically:

The episodes are unpredictable and can be a little blip or a massive swelling that lasts for weeks.

The do NOT respond to steroids, Firazyr, high dose IVIG

The only thing the episodes respond to is epinephrine and he has had massive amounts of epi.  Although he responds, the swelling recurs until it has run its course.

Any thoughts????? We are running out of options.

Kate

Kate Sullivan, MD PhD
Professor of Pediatrics
ARC 1216 Immunology CHOP
3615 Civic Center Blvd.
Philadelphia, PA 19104
(p) 215-590-1697
(f) 267-426-0363