Contributor: Katie Sprinkel, MD

Educational Pearls:

• Hereditary angioedema (HA) is an autosomal dominant bradykinin-mediated disease affecting the airway, skin or gastrointestinal tract and typically presents with swelling in the absence of pruritus
• HA episodes last 3-5 days, typically occur first in childhood or adolescence, and decrease in frequency with aging
• Airway angioedema is the most dangerous but least common
• Skin angioedema is usually uncomfortable and should be monitored if involving the face
• GI angioedema involves nausea, vomiting, and severe abdominal pain
• No definitive triggers, but episodes may be preceded by a variable prodrome but can include headache, GI symptoms, and even a rash
• Treatment can include infusion of a C-1 inhibitor, such as Berinert but it is very expensive

References

Busse PJ, Christiansen SC. Hereditary Angioedema. N Engl J Med. 2020 Mar 19;382(12):1136-1148. doi: 10.1056/NEJMra1808012. PMID: 32187470.

Longhurst HJ, Bork K. Hereditary angioedema: an update on causes, manifestations and treatment. Br J Hosp Med (Lond). 2019 Jul 2;80(7):391-398. doi: 10.12968/hmed.2019.80.7.391. PMID: 31283393.

Summarized by John Spartz, MS3 | Edited by Erik Verzemnieks, MD