Hereditary Angioedema

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Video Timestamps:
0:00 What is Hereditary Angioedema?
0:58 Causes of Angioedema
1:49 Hereditary Angioedema Pathophysiology
3:07 Hereditary Angioedema Types
4:41 Hereditary Angioedema Symptoms
6:29 Hereditary Angioedema Diagnosis
7:29 Hereditary Angioedema Treatment

Please remember this video and all content from Rhesus Medicine is meant for educational purposes only and should not be used as a guide to diagnose or to treat. Please consult a healthcare professional for medical advice.

References

1. Patient.info (2023) Hereditary angio-oedema. Available at: https://patient.info/doctor/dermatology/hereditary-angio-oedema
2. British Society for Immunology (n.d.) Angioedema due to acquired C1 inhibitor deficiency. Available at: https://www.immunology.org/public-information/bitesized-immunology/immune-dysfunction/angioedema-due-acquired-c1-inhibitor
3. HAE UK (n.d.) Diagnosis and investigations. HAE UK. Available at: https://www.haeuk.org/what-is-hae/diagnosis-and-investigations/
4. American Academy of Allergy, Asthma & Immunology (2026) Immunomodulator medications. Available at: https://www.aaaai.org/tools-for-the-public/drug-guide/immunomodulator-medications
5. KnyaMed (n.d.) Angioedema vs edema. Available at: https://knyamed.com/blogs/difference-between/angioedema-vs-edema
6. DermNet (2025) Hereditary angioedema. DermNet NZ. Available at: https://dermnetnz.org/topics/hereditary-angioedema
7. Bork, K., Wulff, K., Witzke, G., Machnig, T. and Hardt, J. (2020) ‘Treatment of patients with hereditary angioedema with the c.988A>G (p.Lys330Glu) variant in the plasminogen gene’, Orphanet Journal of Rare Diseases, 15(1), p. 52. doi: 10.1186/s13023-020-1331-8.
8. Dickeson, S.K., Kumar, S., Sun, M.F., Cheng, Q., Sclafani, S., Verhamme, I.M., Kenne, E., Müller-Esterl, W., Renné, T. and Gailani, D. (2022) ‘A mechanism for hereditary angioedema caused by a lysine 311–to–glutamic acid substitution in plasminogen’, Blood, 139(18), pp. 2816–2829. doi: 10.1182/blood.2021014167.
9. Kozma, G.T., Gáll, Z., Hiripi, L., Bakk, E., Bodó, K., Varga, L. and Farkas, H. (2021) ‘Screening for plasminogen mutations in hereditary angioedema patients with normal C1-inhibitor levels’, Journal of Clinical Medicine, 10(6), p. 1162. doi: 10.3390/jcm10061162.
10. Matafonov, A., Sun, M.F. and Gailani, D. (2022) ‘Bradykinin formation by mutant plasminogen’, Blood, 139(18), pp. 2732–2733. doi: 10.1182/blood.2022015967.
11. Steinmüller-Magin, L., Wulff, K., Witzke, G., Bork, K. and Magerl, M. (2023) ‘Mutant plasminogen in hereditary angioedema is bypassing FXII/kallikrein to generate bradykinin’, Frontiers in Physiology, 13, p. 1090732. doi: 10.3389/fphys.2022.1090732.
12. Kaplan, A.P. (2019) ‘Hereditary angioedema: linking complement regulation to the coagulation system’, Journal of Thrombosis and Haemostasis, 17(1), pp. 3–10. Available at: https://pmc.ncbi.nlm.nih.gov/articles/PMC6332742/