How is Hereditary Angioedema (HAE) diagnosed? How is Hereditary Angioedema (HAE) diagnosed?

There are many signs and symptoms that may be considered when diagnosing HAE. This can make it harder to get the right diagnosis and sometimes leads to a misdiagnosis.

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 to confirm the HAE diagnosis.

Tests to confirm HAE and Type Tests to confirm HAE and Type

The most common test done to confirm a diagnosis of HAE Type I or Type II is a routine laboratory 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 can be useful to look for mutations of certain genes, but more research is needed.

Misdiagnosis and delayed diagnosis are common problems Misdiagnosis and delayed
diagnosis are common problems

Because HAE is a rare disease, people with the condition are often misdiagnosed as having another medical problem.

HAE may be mistaken for:

  • Allergic angioedema
  • Gastrointestinal issues
    • Appendicitis
    • Irritable Bowel Syndrome [IBS]
    • Recurrent Pancreatitis