Hereditary angioedema, a rare disease difficult to diagnose

2023-05-16 18:00:04

• World Hereditary Angioedema Day is commemorated every May 16.
• The main reason for diagnosis so late is because its symptoms are confused with allergies.
• Attacks to the larynx characteristic of this disease can be fatal because between 25% and 40% of deaths in patients are due to asphyxia.

He Hereditary angioedema It is a low-prevalence and life-threatening disease that affects one in 50,000 people worldwide. Despite its rarity, this condition is highly relevant due to the high impact it has on the quality of life of the people who suffer from it. Its unpredictability and the suddenness in which the attacks can appear make it very risky, since, in a critical state, they can be fatal.

Unfortunately, a patient with this condition can take from eight to 21 years to be diagnosed. The main reason is because the swelling of the different parts of the body, which is one of its main signs, is often confused with allergies, insect bites or even some gastrointestinal conditions.

But what is hereditary angioedema?

It is a genetic disease derived from a malfunction of the protein called Esterase Inhibitor. There are two types: type 1, which occurs in approximately 85% of patients, is characterized by low C1 inhibitor (C1INH) levels.

While type 2 stems from a C1INH malfunction. In both cases, C1 alters kallikrein in the blood and causes the blood vessels to dilate and release fluids that cause the edema or swelling characteristic of this disease.

Rare disease that can manifest at any age

He hereditary angioedema It can manifest at any age and gender, although it is more common for it to appear in childhood or adolescence. Despite this, little is known about family members who had this previous condition, many symptoms are different, and even the frequency of attacks in the same patient may vary.

This drastically alters the lives of people who suffer from it, from school to work. In addition to the impact on physical health, emotional health is also harmed due to the effects that the deformations that occur in the body have on self-esteem and the constant emotional stress of suffering a potentially fatal attack.

Characteristic signs of the disease include recurrent episodes of swelling in different parts of the body such as the face, extremities, gastrointestinal tract, and respiratory tract. Specifically, laryngeal attacks can be fatal due to the risk of suffocation. It is estimated that between 25% and 40% of deaths in patients with HAE are due to this cause.

“At the regional and local level there are no exact figures, although it is estimated that around 1% of the population in Mexico could have Hereditary Angioedema. The little knowledge and confusion with other diseases such as allergies, insect bites or gastrointestinal disorders, can take patients years, even decades to reach a correct diagnosis. Although there is much to explore about these complex diseases, today, with the support of technology, disease monitoring and virtual diagnoses can change the way we care for ourselves and facilitate follow-up or treatment for diseases such as Hereditary Angioedema”, highlights Dr. Estefanía Torres, Medical Leader for Immunology at Takeda Mexico.

under the World Hereditary Angioedema Daywhich is commemorated every year on May 16, the medical and scientific community come together to raise awareness about the importance of timely diagnosis, access to adequate treatment and useful alternatives that optimize and improve the quality of life of patients with this weird illness.

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