Hereditary Angioedema (HAE)

Hereditary angioedema (HAE) is a rare genetic condition characterized by attacks of cutaneous and submucosal edema. These debilitating episodes typically affect the abdominal area, upper respiratory tract, and skin, and they have a significant impact on quality of life.1,2 

In addition to preventing mortality, HAE management aims to reduce morbidity, providing patients with a better quality of life.3 Patients with HAE experience different attack frequencies and symptom severity. Managing HAE, therefore, requires an individualized management plan that can address a patient’s needs as well as their preferences and daily activities. These plans may be adjusted over time to better reflect changes in patients’ needs. They should also include access to on-demand and effective therapy, plan for short-term prophylaxis before medical procedures, and include considerations for long-term prophylaxis.4 

The unpredictable and complex nature of HAE requires that a care team with experience in the disease follows up with patients. The disease should be managed via a multidisciplinary approach, including knowledgeable specialists coming from different medical fields such as immunology, dermatology, and gastroenterology.1,5,6 These specialists must be aware of other medical conditions that may be affecting their patients and for which they are receiving pharmacological treatment.4

Primary Care Practitioner

A primary care practitioner (PCP) can be consulted once symptoms appear. A PCP is a specialist in family medicine, general internal medicine, or general pediatrics and is usually the first point of contact between patients and the healthcare system.7 A PCP may also refer patients to other appropriate specialists and coordinate health care with them, and they can also provide patients with regular health checkups.8


Patients with HAE are commonly referred to allergists/immunologists for diagnosis and treatment. These specialists are trained to deal with allergies and immunologic conditions, and they can help determine triggers for the experienced symptoms while also setting a treatment plan.9,10 


As HAE attacks typically involve the swelling of subcutaneous tissues and sometimes include erythema marginatum, dermatologists should be included in the care team. Erythema marginatum appears as a transient reticular rash that sometimes appears as a prodrome to hereditary angioedema attacks. These specialists can help differentiate HAE from allergic angioedema and determine a course of treatment.11,12 

Obstetrics and Gynecology Specialists

Although obstetrics and gynecology specialists do not treat HEA, these specialists will accompany women with the disease, as it can impact birth control choices, pregnancy, and breastfeeding. These specialists are also aware of the contraindicated medications during pregnancy, so their coordination with the HAE care team is essential.13,14


More than 90% of patients with HAE experience abdominal pain. A specialist in the gastrointestinal tract can diagnose HAE, identify and treat an abdominal attack, and/or refer patients to other specialists such as allergists. Gastroenterologists should consider a diagnosis of angioedema in all HAE patients presenting with recurrent, unexplained, and episodic abdominal attacks that involve symptoms related to nausea, vomiting, or crampy pain.15

Genetic Counselors

Hereditary angioedema is an autosomal dominant disease.1 Following an HAE diagnosis, patients may benefit from a consultation with a geneticist to clarify information not only about the genetic basis of the disease and how it may affect their family, but also when planning for pregnancy.16 A genetic counselor may also discuss the potential screening of family members, as this screening is currently recommended in HAE.1

Communicating With the Hereditary Angioedema Specialist

The relationship between an HAE specialist and their patients should be set on a collaborative basis with open communication. This will optimize the process of decision-making and help in providing the most appropriate treatment over the course of the disease.4 

Being prepared for a doctor’s appointment will also help patients in making decisions about their treatment. Diagnostic tests, available treatments, and possible changes in quality of life are topics that can be discussed during these visits. Listing all questions and concerns before each visit, prioritizing the topics that need the most attention, and taking notes during the consultation can be helpful for patients to understand information and ensure all questions and doubts are properly addressed.17


1. Maurer M, Magerl M, Betschel S, et al. The international WAO/EAACI guideline for the management of hereditary angioedema–the 2021 revision and update. Allergy. Published online January 10, 2022. doi:10.1111/all.15214

2. Jain G, Walter L, Reed C, O’Donnell P, Troy J. How do patients and physicians communicate about hereditary angioedema in the United States? PLoS One. 2021;16(12):e0260805. doi:10.1371/journal.pone.0260805

3. Riedl MA, Banerji A, Gower R. Current medical management of hereditary angioedema: follow-up survey of US physicians. Ann Allergy Asthma Immunol. 2021;126(3):264-272. doi:10.1016/j.anai.2020.10.009

4. Busse PJ, Christiansen SC, Riedl MA, et al. US HAEA Medical Advisory Board 2020 guidelines for the management of hereditary angioedema. J Allergy Clin Immunol Pract. 2021;9(1):132-150.e3. doi:10.1016/j.jaip.2020.08.046

5. Abdulkarim A, Craig TJ. Hereditary angioedema. In: StatPearls [Internet]. Treasure Island, FL: StatPearls Publishing; 2022. Updated May 4, 2022. Accessed June 17, 2022.

6. Considerations for managing hereditary angioedema. Discover HAE. Accessed June 17, 2022.

7. Primary care. American Academy of Family Physicians (AAFP). Accessed June 17, 2022.

8. Kumar K. What does primary care physician mean? MedicineNet. Accessed June 17, 2022.

9. About allergists/immunologists. American Academy of Allergy, Asthma & Immunology (AAAAI). Accessed June 17, 2022.

10. Angioedema defined. American Academy of Allergy, Asthma & Immunology (AAAAI). Accessed June 17, 2022.

11. Manning ME. Recognition and management of hereditary angioedema: best practices for dermatologists. Dermatol Ther (Heidelb). 2021;11(5):1829-1838. doi:10.1007/s13555-021-00593-x

12. Bygum A. Hereditary angio-oedema for dermatologists. Dermatology. 2019;235(4):263-275. doi:10.1159/000500196

13. Banerji A, Riedl M. Managing the female patient with hereditary angioedema. Womens Health (Lond). 2016;12(3):351-361. doi:10.2217/whe.16.6

14. Pregnancy. US Hereditary Angioedema Association (HAEA). Accessed June 17, 2022.

15. Ali MA, Borum ML. Hereditary angioedema: what the gastroenterologist needs to know. Clin Exp Gastroenterol. 2014;7:435-445. doi:10.2147/CEG.S50465

16. Genetic counseling. Centers for Disease Control and Prevention (CDC). Accessed June 17, 2022.

17. Hereditary angioedema. Genetic and Rare Diseases Information Center (GARD). Updated November 8, 2021. Accessed June 17, 2022.

Reviewed by Debjyoti Talukdar, MD, on 6/23/2022.