Patients in Brazil Wait Decades for a Hereditary Angioedema Diagnosis


A study of hereditary angioedema (HAE) patients in Brazil was featured in an article in the Angioedema News. Researchers found that patients waited on average seventeen years for a diagnosis. One patient actually had to wait thirty-six years before receiving a diagnosis. Having a family history of HAE did not seem to have an effect on the extraordinary time delay.

The researchers noted that although most patients had their first HAE symptom by the time they were eleven years old, the majority were not diagnosed until they reached twenty-nine years of age, which is a seventeen-year delay from their first manifestations of the disease.

It must be noted that family members of HAE patients should be tested even if they are asymptomatic. HAE can be fatal if it is not treated in the early stages of the disease.

The Brazilian Registry

It is estimated that there are somewhere between 3,600 to 18,000 cases of HAE in Brazil. Yet from 2006 through 2010 only 210 cases were entered into the Brazilian registry.

About the Study

A group of Brazilian researchers associated with the Clementino Hospital in Rio de Janeiro studied the clinical features of HAE patients from 1989 to 2016.

About HAE

There are two main types of HAE. Type 1 is caused by low levels of the C1 inhibitor protein in the blood. Type 1 represents approximately 85% of HAE cases.

In Type 2 HAE the patient’s C1 level is almost normal. In Type 2 cases, the C1 protein is unable to function properly. Type 2 represents approximately 15% of all HAE cases.

The third type of HAE, Type 3, has normal levels of the C1 inhibitor protein but it is rare and not fully understood.

 Symptoms of HAE

 Recurrent edema (swelling) stands out as the primary manifestation of HAE. Symptoms of the three types of HAE are almost identical. Left untreated, it can threaten the patient’s life if it develops in critical areas.

Stressful life events, trauma, medical procedures, infections or pregnancy may trigger HAE-related attacks of swelling, which usually subside in several days.

If abdominal swelling occurs it may cause diarrhea, pain, and vomiting. Healthcare staff often misdiagnose angioedema as a surgical emergency.

The researchers collected data from 107 patients including their family’s HAE history, age at the onset of symptoms, education, and socioeconomic information. Most patients listed their education as medium and their socioeconomic status between low to medium. The patients’ age averaged 38 within a range of 12 to 73 years old.

Approximately eighty-six percent of patients indicated that they had a family history of HAE, yet these patients still had to wait a considerable length of time for a diagnosis.

Almost ninety-five percent of patients reported a trigger prior to having a swelling attack. Half of the patients had symptoms such as itching or numbness prior to an attack.

Most attacks occurred in the skin, gastrointestinal tract, or airways. One-fourth of the patients had to be admitted into the intensive care units, with eight percent requiring tracheostomy to create an airway in the neck.

 The study revealed that women experience attacks that are more severe than in men. This presents the need for awareness of HAE by obstetricians and gynecologists to avoid complications in pregnancy and delivery.


Rose Duesterwald

Rose Duesterwald

Rose became acquainted with Patient Worthy after her husband was diagnosed with Acute Myeloid Leukemia (AML) six years ago. During this period of partial remission, Rose researched investigational drugs to be prepared in the event of a relapse. Her husband died February 12, 2021 with a rare and unexplained occurrence of liver cancer possibly unrelated to AML.

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