Diagnosis
Diagnosing HAE
Hereditary angioedema (HAE) is so rare that many healthcare professionals have never seen a patient with HAE, which can lead to delayed diagnosis or misdiagnosis for some patients.1,2 In a 2017 survey of 445 patients with HAE, people with HAE on average experienced a delay of 8.4 years in getting an accurate diagnosis.3
Clinical presentation of HAE
HAE should be considered in patients with1:
- History of recurrent angioedema without urticaria
- Positive family history
- Onset of symptoms in childhood or adolescence
- Recurrent abdominal pain attacks
- Occurrence of upper airway edema
- Failure to respond to treatment with antihistamines, glucocorticoids, or epinephrine
- Presence of prodromes
Confirming diagnosis
To confirm an HAE diagnosis, laboratory testing is necessary. Patients should have serum levels of C4 measured, as well as antigenic and functional C1 esterase inhibitor levels.2
Tests to Confirm HAE Types I and II5
Importance of diagnosis
Missed/delayed diagnosis can result in unnecessary treatments and surgery.2,6 The risk makes early, accurate diagnosis critical.2
Challenges associated with diagnosis
In a 2010 paper, patients saw an average of 4 different physicians before getting a diagnosis of HAE.
