Hereditary angioedema

Hereditary angioedema is an autosomal dominant genetic disorder characterized by multiple episodes of edema, commonly affecting the skin, digestive system, and respiratory tract.

Dr. Nguyen Thi Quynh Trang, from the Dermatology Department, Dermatology and Allergy Center, Military Central Hospital 108, stated that the incidence rate is approximately 1 in 50,000 people and usually begins before the age of 20. Currently, only 19 patients nationwide have been diagnosed with hereditary angioedema. If left undiagnosed and untreated, the disease can be life-threatening.

The disease manifests as edema in various parts of the body such as the face, lips, eyes, hands, feet, and genitals, recurring frequently without accompanying rash or urticaria. Patients may experience gastrointestinal obstruction symptoms such as nausea, vomiting, and abdominal pain due to intestinal wall edema.

Laryngeal edema is a clinical emergency and can be life-threatening due to airway obstruction.

A patient with hereditary facial edema. Photo: Provided by the doctor.

Diagnosis is confirmed through quantitative C4 complement testing and testing to assess C1-INH concentration and function. These tests are currently only available at a limited number of medical facilities.

Specific medications for acute exacerbations include C1 inhibitors, ecallantid, or icatibant, all of which are expensive and not currently available in Vietnam. Patients in acute exacerbations are treated with transfusions of fresh frozen plasma. Patients with severe laryngeal edema requiring emergency tracheostomy may experience respiratory distress.

Prophylactic treatment involves danazol or tranexamic acid. The doctor will consider surgical intervention if necessary, as the impact of surgical trauma can worsen the condition.

Diagnosing the disease requires a combination of specific clinical symptoms and specialized tests. Therefore, patients with suspected symptoms should seek timely medical examination and treatment to avoid life-threatening situations.

If there is a family history of hereditary angioedema, children need to be diagnosed early and receive appropriate intervention.

Le Nga

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