Hereditary Angioedema is Often Misdiagnosed

Due to its unspecific symptoms, hereditary angioedema (HAE) is often misdiagnosed and treated with unnecessary surgical procedures.

To further examine rates of misdiagnosis and treatment of HAE, researchers used questionnaires for HAE patients and probands without HAE (1:2).

Compared with the general population, they found that HAE patients undergo a significantly greater number of invasive diagnostic and therapeutic interventions. Specifically, they were 2.5 times more likely to undergo abdominal surgery, with the number of operations per patient correlating with the number of years between onset of symptoms and diagnosis. They underwent twice the number of appendectomies and were 2.3 times more likely to undergo a gastroscopy than controls.

“It is…important to increase the general knowledge and awareness of orphan diseases such as HAE with a view to improving diagnosis and treatment, minimizing the patients' suffering and enhancing their quality of life.”

—Michael Potts

Reference:

Hahn J, Hoess A, Friedrich DT, et al. Unnecessary abdominal interventions in patients with hereditary angioedema. J Dtsch Dermatol Ges. 2018 Dec;16(12):1443-1449.