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A multicenter epidemiological observational study aiming to explore the cleaved high-molecular weight kininogen (cHMWK) including identification and characterization of other metabolite/biomarkers in HAE type 1/2 patients

Hereditary angioedema (HAE) is a rare autosomal dominant genetic disorder characterized by recurrent tissue angioedema episodes, mainly caused by mutations in the SERPING1 gene that encodes C1 inhibitor (C1-INH), a protease involved in limiting bradykinin production. Low levels of C1-INH (HAE type 1) or dysfunctional C1-INH (HAE type 2) lead to bradykinin accumulation, resulting in capillary leakage and tissue swelling.

High Molecular Weight Kininogen (HMWK) proteolysis, by active plasma kallikrein, results in bradykinin and cHMWK generation.

The goal of this study is to explore the cHMWK concentrations in HAE type 1/2 patients, as a biomarker for this disease.

The HAEKA study is performed in collaboration with Shire. Shire is a wholly owned subsidiary of Takeda Pharmaceutical Company Limited.

Inclusion Criteria:

• Informed consent is obtained from the participant
• The patient with diagnosis of Hereditary Angioedema (HAE) type 1/2 based on international guidelines
• The patient experienced ≥4 HAE attacks within last 12 month before enrolment in the study
• The participant is older than 18 years old

Exclusion Criteria:

• Inability to provide informed consent
• The patient is not diagnosed with Hereditary Angioedema (HAE) type 1/2
• The patient experienced ˂ 4 HAE attacks within last 12 month before enrolment in the study
• The participant is younger than 18 years old

Hereditary Angioedema type 1/2 patients