How is HAE diagnosed?
Getting the answers you need.
Zakiya, RUCONEST patient
Getting the right diagnosis can take time.
There are many signs and symptoms that should be considered when diagnosing HAE, making it harder to get it right. Sometimes, this leads to misdiagnosis.
HAE may be mistaken for:
Allergic angioedema
Gastrointestinal issues – Appendicitis, Irritable Bowel Syndrome [IBS], Recurrent Pancreatitis
Two main considerations HCPs may look for include:
A history of recurrent swelling
A family history of HAE
If the symptoms are thought to be HAE, a blood test will be done that may confirm the HAE diagnosis.
Listen to Tequoia talk about her path to a HAE diagnosis and working with her health care provider.
Finding your type.
The most common test done to confirm a diagnosis of HAE Type I or Type II is a routine blood test.
This test will measure the levels of C1 Inhibitor (C1-INH) protein in the blood and how well it is working.
HAE Type I test results will show low levels of C1-INH protein.
HAE Type II test results will show normal or above normal levels of C1-INH protein, but they are not functioning well.
Experts are hopeful that continued research will find additional laboratory or genetic markers that will improve the ability to confirm diagnosis of HAE-nl-C1INH (formerly known as Type III), for those who have normal C1-INH levels.
For HAE-nl-C1INH genetic tests may be useful to look for mutations of certain genes.
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