Katharina Buczek
Additionally, in an effort to narrow their focus, the researchers specifically analyzed patients diagnosed with hereditary angioedema.
Hereditary angioedema (HAE) is “a disease characterized by recurrent episodes of severe swelling of the skin and mucous membranes,” according to the National Institute of Health.
Patients affected by this particular disease notoriously suffer long diagnostic delays, which not only prolong pain but can also be fatal.
The researchers interviewed nine patients who live with HAE yet went undiagnosed for over five years. The patients shared their symptoms, office visit experiences, and more.
Kazuto Kato, the study’s senior author, described the overwhelming consensus.
“What was striking was that, in most cases, the possibility of a rare disease was simply not considered. Symptoms were sometimes put down to ‘psychological stress’ or ‘stomach flu’ and left at that. This is concerning because the condition needs to be treated to avoid worst-case scenarios and improve quality of life,” Kato said.
In turn, the researchers believe that raising rare disease awareness among both medical teams and patients is crucial.
“Our findings strongly suggest the need for measures to make it easier for patients and health care providers to recognize the possibility of rare disease,” Kato said.
These measures might include more rare disease recognition training for clinicians as well as more mass media coverage of rare disease prevalence.
Additionally, Kato encourages patients to conduct research too.
“Health care providers sometimes cannot be fully aware of their patient’s overall condition. So, patients should be encouraged to raise their suspicion and act themselves. This could reduce the diagnostic delays,” Kato continued.
