Diagnosis
Diagnosing HAE can be challenging. Because it is a relatively unknown condition, it is frequently undiagnosed and can be mistaken for allergic reactions.
Which medical specialty should you consult?
Generally, allergists/immunologists and other specialists familiar with HAE can conduct the investigation. It is important to discuss the need for tests such as complement C4 and C1-inhibitor (C1-INH) assays, according to the clinical evaluation.
Laboratory tests
When a patient has recurrent symptoms of edema and/or abdominal attacks, tests that assess the quantity and function of C1-INH in plasma can support the confirmation of the diagnosis.
ICD
ICD-10: D84.1
Defect in the complement system
Treatment
There is no cure for HAE, but it is possible to treat the symptoms associated with attacks and manage the disease with medium- and long-term medications.
Medications approved in Brazil
There is no cure for HAE, but there are medications approved in Brazil that enable disease control and a better quality of life. Treatment choice depends on the type of HAE, frequency and severity of attacks, as well as individualized medical evaluation.
Prophylaxis (crisis prevention)
- Danazol (Ladogal) — oral
- C1 Inhibitor (Berinert) — subcutaneous
- C1 Inhibitor (Cinryze) — intravenous
- Lanadelumab (Takhzyro) — subcutaneous
- Berotralstat (Orladeyo) — oral
Crisis treatment
- C1 Inhibitor (Berinert) — intravenous
- C1 Inhibitor (Cinryze) — intravenous
- Icatibant (Firazyr) — subcutaneous
Note
Brand names are provided for reference. Some of these medications are incorporated into the Brazilian Unified Health System (SUS) according to the current Clinical Protocol. Others may have mandatory coverage under supplementary health plans, as regulated by ANS. Availability may vary according to regulatory updates and medical indication.
Clinical Protocol and Therapeutic Guidelines (PCDT)
Portaria SAS/MS No. 880, July 12, 2016
Approved the PCDT for Angioedema associated with C1-esterase (C1-INH) deficiency.