Hereditary Angioedema

Hereditary angioedema (HAE) is an autosomal-dominant C1-esterase-inhibitor deficiency causing episodic non-pruritic submucosal/subcutaneous edema (lips, face, limbs, GI tract, larynx). Attacks may be triggered by trauma/stress; abdominal attacks cause severe pain/vomiting; laryngeal edema is life-threatening. Labs: low C4, low C1-INH, low C1q.

Common Symptoms

Non-pruritic episodic edema; lip/facial swelling; abdominal pain/vomiting; laryngeal edema; no urticaria

Causes and Pathogenesis

SERPING1 gene mutation causes quantitative/qualitative C1-INH deficiency, uncontrolled bradykinin generation, increased vascular permeability and edema.

Treatment

Acute: C1-INH concentrate, ecallantide, icatibant; long-term prophylaxis: androgens (danazol), C1-INH; avoid ACE inhibitors

Preventive Measures

Avoid ACE inhibitors/estrogens; short prophylaxis before surgery/dental work; emergency plan for laryngeal edema; genetic counseling.

Department to Visit

It is recommended to visit the Allergy department; an appointment can be booked on this platform before the visit.

Warm reminder: The above information is for health science reference only and cannot replace professional medical diagnosis. If you have related symptoms, please seek medical attention at a regular hospital promptly.