Do you live with swelling without explanation? It can be a rare disease without anyone noticing it

In Mexico, genetic vascular edema is one of Those rare diseases that are almost not speakingBut this can radically change the life of those who suffer from it.

According to the data of Dr. Estefanía Torres, a pioneer in immunology at Takeda Mexico, The spread is only 0.9 patients per 50 thousand people.

However, lack of diagnosis and ignorance of their symptoms It makes it a silent threatNo more than 80 % of the country has been diagnosed.

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Although it is very rare, this genetic disease It can be fatalEspecially when symptoms affect the airways and life is at risk by suffocation.

Patients usually live for years with uncertainty, and they face frequent swelling plates (edema) in different parts of the body, Especially in the abdomenWhich can lead to unnecessary multiple surgeries Wrong diagnoses like Irritable Bowel Syndrome or Digestive Infections.

What is genetic vascular edema and how is it distinguished from common allergies?

Genetic vascular edema is a disease that causes it For genetic change Who causes Lack of protein called C1 Proteasa inhibitors.

This deficiency is born in the body, allowing an increase in radycicinin, which is a substance It expands the blood vessels and causes the causes of fluidsWhich led to edema.

Unlike common allergies, The hereditary vascular edema They are not accompanied by itching or redness.

It is presented asymmetric (only in one part of the body) and It can appear in different areas in each episode.

In addition, this type of edema does not respond to usual antihistamines or allergies, and therefore the lack of response to these treatments is an important alert to doctors.

The diagnosis that can take years

One of the main barriers to a timely diagnosis is the lack of knowledge of rare diseases at the first level of medical care.

In Mexico, the general practitioner, a pediatrician or an internal doctor He faces thousands of rare diseasesSo thinking about genetic vascular edema is not immediate.

According to Dr. Torres, symptoms They usually start in childhood, between 5 and 8 years. Often, parents travel to many offices and hospitals in search of answers, which delay the diagnosis for years.

In some cases, patients spend up to 15 years without receiving a correct diagnosis, It suffers from repeated attacks What It affects the quality of their lives and generate anxiety Whether in the sponsorship providers.

Keys of detection and suspicion

For the first time, communication doctors, There are warning signs: Repeated edema Without itching or redness, Family history for swelling or unjustified deaths by suffocation And not responding to traditional remedies of allergies. 75 % of cases report relatives with similar symptoms, which enhances the importance of detailed medical history.

Access to new treatment and challenges

Panorama has improved for patients in recent years. It is currently in Mexico Medicines that can stop the sharp attackand Short -term preventive treatments For those who will be exposed to long -term surgeries and prevention to maintain control of the disease. However, these individual treatments and access to expert doctors require this topic.

On the institutional level, the main challenge remains the lack of knowledge of rare diseases, both In the health sector as in the administration.

Therefore, asserting Mexico, medical organizations and the patient They are working in campaigns and educational forums for health professionalsWith the aim of visual disease and facilitating early diagnosis.

Believe in the patient, the key to saving lives

For Dr. Torres, one of the biggest challenges is to ensure the creation of both doctors and family members in the patient’s symptoms, Even when the results of the laboratory or primary treatments Don’t be conclusive. Emotional support and reliable information can be published to achieve timely diagnosis and improve the quality of the life of those who live with genetic vascular edema.

BGPA