Do you know of hereditary angioedema, which takes an average of 8 years to diagnose?
Dec 02, 2025
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Known to occur in 1 out of every 50,000 to 100,000 people 'Hereditary Angiomedema (HAE)' is a rare disease in which acute edema occurs repeatedly throughout the body due to a lack of C1-esterase inhibitor (C1-lNH), a plasma protein that controls inflammation in the body.
The number of domestic patients with hereditary angioedema is estimated to reach about 1,000 considering the current prevalence in Korea (1 per 50,000 people), and it is about 300 based on the registration of special cases for calculating rare diseases in 2024.
Because HAE has low recognition of the disease and varies in symptoms and severity from patient to patient, many patients often suffer from 'diagnostic wandering' due to not being diagnosed accurately in the early stages.
Professor Shim Ji-soo of the Department of Allergy at Ewha Womans University Mokdong Hospital said, `Patients with hereditary angioedema suffer from physical and mental pain for an average of 8 years until diagnosis. Even after diagnosis, it is a rare disease that is constantly exposed to unpredictable seizures and emergencies, which puts a significant burden on psychological and financial areas."
The diagnosis of hereditary angioedema consists of blood tests (C1-INH concentration and function, C4 levels), clinical symptom evaluation, and family history confirmation. It can be diagnosed when the amount of complement-related proteins in the blood (normal range 14 to 40 mg/dl) and activity (60 to 130%) are measured and low levels are confirmed. 75% of patients occur due to family history, but 25% may occur due to spontaneous mutations without family history.
The main symptom of hereditary angioedema is 'edema', which occurs repeatedly in various parts of the body. It is characterized by no symptoms usually, but repeated acute seizures in various parts of the body, including the face (eye, lip), neck (airway, tongue), abdomen, and hands and feet. Professor Shim said "In particular, laryngeal edema occurring in the upper respiratory tract is at risk of leading to airway obstruction caused by asphyxia if not receiving adequate treatment and care in a timely manner, so you should visit the hospital immediately."
Although edema occurs naturally for no apparent reason, factors that can cause hereditary angioedema symptoms include stress, minor trauma, procedures and operations such as dental treatment, and estrogen exposure.
The treatment of hereditary angioedema is divided into preventive treatment and emergency treatment in case of seizures, and the most important treatment is rapid response in case of acute seizures. Since 2018, emergency self-administered injections (icativant acetate) that can quickly alleviate acute seizures have been provided in Korea, and educated patients can be administered at home in the early stages of seizures.
Professor Shim "Early diagnosis and early treatment of seizures are more important than anything else for hereditary angioedema. If diagnostic costs are reduced, related information sharing is expanded, and emergency drug access is improved, the treatment satisfaction of patients with hereditary angioedema will be higher."
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This article was translated by Naver AI translator.
