Hereditary Angioedema (HAE) patients and health specialists reiterated their urgent call to publicize this serious disease within the country and to inquire about its symptoms, so as to avoid erroneous diagnoses in patients, who experience painful oedema (swelling) in several body parts. The inflammations are produced by the functional deficiency of a protein called C1 Inhibitor, which causes an uncontrolled action of two blood proteins responsible for regulating pressure, coagulation and pain. More information about hereditary angioedema.

In Chile, 87% of patients are undiagnosed, which is why they’re often subjected to the erroneous treatment of their crises, with a risk of death in 30% or 40% of cases. Immunologist at the German Clinic, one among the few AEH specialists within the country.

Added to the present scenario is that the high cost of the drugs to treat the disease, which exceeds $ 350,000 per dose; difficult to finance for many patients and impossible to accumulate for those living on the wage ($ 264,000). I often spend them reception, because I do not always have the drugs, “confesses Karen Silva, who has lived with HAE since she was five years old.

Erroneous diagnoses also cause a rise within the country’s public spending. Not a couple of patients have even undergone unnecessary hospitalizations and surgeries, as their symptoms are confused with diseases like appendicitis.

According to Dr Gallardo, patients present a mean of 100 seizures per annum and therefore the constant concern that HAE is inherited in 85% of cases. during this way, anxiety and depression are common in those that suffer it, damaging not only their own quality of life but also that of their family nucleus: “It lives a day with vital risk. You never know if the subsequent day you’re getting to be fine or if you’ll have a crisis during the night, ”says Silva.

Alert symptoms

The call is to urge informed and recognize the symptoms of HAE, whose commonest warning signs are:

  • The sudden appearance of inflammation or painful swellings in parts of the body like skin, mucosa of the abdomen, extremities or face.
  •  Repetitive episodes of abdominal colic without apparent cause.
  •  Attacks that last for quite 76 hours which don’t answer antihistamines or corticosteroids.

Base history of Oedema.

In the presence of 1 or more symptoms, the advice is to ascertain a specialist as soon as possible. This, through a biopsy, can detect if you suffer from the dramatic disease.

The average time of diagnosis of hereditary angioedema exceeds ten years

the aim is to sensitize the overall population and therefore the medical profession to enhance health care, allowing faster and more accurate diagnosis and help patients The SEAIC and therefore the Institute of Health Carlos III will sign an agreement for the inclusion of hereditary angioedema within the Rare Disease. Wearehae.co.uk.

Hereditary angioedema may be a genetic disorder almost unknown by popular opinion and by the doctors themselves, which suggests that the typical time to succeed in diagnosis is quite ten years. This has been highlighted with the arrival of the primary International Day of pathology, on May 16.

As explained by Dr. Concepción López Serrano, Head of the Allergology Section of the La Paz Hospital in Madrid, “this may be a rare disease caused by a genetic disease on chromosome 11 that causes a deficiency or malfunction of a protein called an inhibitor. C1-esterase that controls, among other things, the formation of bradykinin, a strong mediator of inflammation and a vasodilator with increased vascular permeability. This defect leads to severe episodes of swelling lasting 2 to five days which will affect the skin of the face, neck, lips, eyelids, limbs of arms and legs, and mucous tissues of the upper tract (throat, tongue or glottis), producing symptoms of respiratory distress and inability to swallow, “he points out.

Cite this article as:
Editorial Staff, "Hereditary Angioedema: The little known and deadly disease," in Medicalopedia, April 16, 2020, [Permalink: https://www.medicalopedia.org/8671/hereditary-angioedema-the-little-known-and-deadly-disease/].