New Tool can Measure Disease Activity in Hereditary Angioedema Type 1 and 2

According to a story from Angioedema News, a team of researchers and scientists have successfully developed a tool that is able to measure disease activity in hereditary angioedema that is linked to deficiency of the C1 inhibitor. This refers to by the type 1 and 2 variants of the condition. The creation of this tool could be valuable both for treatment and in the clinical trial setting.

About Hereditary Angioedema

Hereditary angioedema is a genetic disorder which is characterized by chronic episodes of swelling that can affect multiple areas of the body. The condition is caused by mutations affecting the SERPING1 gene. Swelling attacks generally occur every two weeks or so; they can usually last for several days. Swelling may affect the limbs, digestive tract, face, and airway, with blockage of the airway being the most dangerous complication. Vomiting and abdominal pain may accompany attacks as well if the digestive tract is involved. Treatment involves reducing the likelihood for attacks to appear and preventing them from worsening when they do. Hereditary angioedema is typically only life-threatening if left untreated. Prevalence of the condition is estimated to be around one in 10,000 to one in 50,000, at least in the US and Canada. To learn more about hereditary angioedema, click here.

Improving Disease Monitoring

Before the creation of this new tool, there was no real effective method for measuring activity in these forms of the disease. Some, such as the Angioedema Activity Score, can be useful for measuring activity in patients regardless of the disease variant that they have, but the fact that it needs to be filled out daily (creating a burden for patients) and its brief time frame limits is usefulness.

The new Hereditary Angioedema Activity Score (HAE-AS) is a 12 item questionnaire that focuses on circumstances surrounding attacks (location, severity, frequency, etc.), ER visits, psychiatric treatment, and daily life impacts. It was designed on a six month time frame, far longer than the one month time frame used in the Angioedema Activity Score. 290 patients, mostly women with the type 1 variant, completed the HAE-AS in the study. 

The average score from this sample was 10.66, and the authors concluded that a score of 12 was the cutoff for advanced disease. Women and people who experienced earlier symptom onset tended to have higher scores. The scores from HAE-AS were also correlated with scores from SF-36v2 scores (a general quality of life assessment) and HAE-QoL (a quality of life evaluation specifically for the disease).

Patients who scored low on these assessments scored higher on HAE-AS, suggesting that the measures are statistically aligned with one another. The authors recommend that use of HAE-AS in future research of type 1 and 2 hereditary angioedema.


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