Diagnosis and Treatment

HAE Diagnosis

The rarity of Hereditary angioedema (HAE), diversity of its affected population, and the overlap in symptoms with other more common diseases, such as allergic angioedema and appendicitis, make diagnosing HAE challenging and an HAE diagnosis may be delayed. Skin symptoms are often misdiagnosed as allergic angioedema. Abdominal symptoms can be misdiagnosed as appendicitis. Awareness of HAE has increased in recent years; however, patients continue to experience misdiagnoses.9 Understanding and recording the patterns of your symptoms will help your doctor make a proper diagnosis. Tell your doctor about any family history of HAE.

Your doctor may suspect you have HAE when traditional treatments for swelling don’t work, you have a positive family history, and you have a history of recurrent angioedema attacks.8 Your doctor may order blood tests to support a diagnosis of  HAE Type 1 or Type 2. Your blood will be tested for:

  • C1-INH quantitative to count the number of C1-INH proteins in the blood
  • C1-INH function to measure how well the protein is working
  • C4—C4 protein level is typically low in confirmed cases of HAE Type 1 or Type 210

Types of Hereditary Angioedema28


HAE Treatment

Guidelines recommend that all HAE attacks are considered for on-demand treatment and that any attack affecting or potentially affecting the upper airway is treated. On-demand therapy, or acute treatment, is medicine used to treat the symptoms of an HAE attack.8

Patients should be evaluated at every doctor visit (at least once a year) for the need for long-term prophylactic treatment that reduces the likelihood of attacks in severely symptomatic HAE patients. You and your doctor should discuss whether long-term preventative treatment is right for you.

Short-term prophylactic treatment is for patients who know they will encounter a trigger and want to reduce the chance of an attack, such as a dental procedure or menstruation.

It is important to work with your doctor to develop a treatment plan that works for your individual needs.


FDA-Approved HAE Treatment Options

On-Demand Therapy
Preventative/Prophylactic Treatment

 


On-Demand Treatment Solutions

Guidelines state that on-demand treatments are given at the onset of symptoms to abrogate angioedema attacks.1

All patients require a readily available on-demand treatment to terminate unpredictable angioedema episodes. In addition, early treatment has been shown to shorten the duration of the attack, no matter how severe it is or where it is located in the body.1


References

[1] Zuraw BL, Banerji A, Bernstein JA, et al. US Hereditary Angioedema Association Medical Advisory Board 2013 recommendations for the management of hereditary angioedema due to C1 inhibitor deficiency. J Allergy Clin Immunol Pract. 2013;1(5):458-67.
[8] 2018 Maurer – The international WAO_EAACI guideline for the management of hereditary angioedema – the 2017 revision and updateREFERENCEvf1.14
[9] Zanichelli A, Longhurst HJ, Maurer M, et al. Misdiagnosis trends in patients with hereditary angioedema from the real-world clinical setting. Ann Allergy Asthma Immunol. 2016 Oct;117(4):394-398.
[10] US Hereditary Angioedema Association. Comprehensive Table of Angioedema Types.
[28] Maurer et al. World Allergy Organization Journal (2018) 11:5 DOI 10.1186/s40413-017-0180-1 Page 6, Table 5