DIAGNOSING HAE
Hereditary angioedema (HAE) is a rare genetic disease characterized by recurrent attacks of subcutaneous or submucosal edema that can affect the face, respiratory tract, extremities, gastrointestinal tract, genitalia or other parts of the body.1
Although a general lack of awareness and misunderstanding of symptoms can contribute to delays in diagnosis, once HAE is suspected, diagnostic methods have been established.2,3

Confirming the diagnosis
All patients suspected to have Type I or II HAE should be assessed for blood levels of C1-inhibitor function, C1-inhibitor protein, and C4. If any of the levels are abnormally low, the tests should be repeated to confirm the diagnosis.3
Delays in diagnosis
Historically, delays in diagnosis ranged from 10 to 22 years.4 Today, delays are still common. Although 33% of HAE patients were accurately diagnosed within 1 year of their first HAE attack, there was a delay of more than 10 years in diagnosing 32% of patients.6
Consequences of misdiagnosis
Misdiagnosis can contribute to delays in diagnosis and put patients at an increased risk of ineffective treatments or unnecessary procedures.1,2
Undiagnosed HAE patients are at a higher risk of mortality by asphyxiation following a laryngeal attack.2,6 Laryngeal attacks are rare. However, at least 50% of patients with HAE experience at least 1 laryngeal attack in their lifetime. Mortality of 14% to 33% due to untreated and unrecognized laryngeal attacks has been reported.6
By recognizing and accurately diagnosing patients with HAE, you can help mitigate these risks.