The long wait for diagnosis in patients with hereditary angioedema
For many patients with hereditary angioedema (HAE), time from first symptoms to diagnosis of HAE can take as long as 10 years or more. Meanwhile, acute attacks can be life-threatening and require emergency care. This article summarises the need for better diagnosis expressed during patient surveys.1–7
Adequate emergency and long-term prophylactic treatment of HAE are essential due to the disabling and life-threatening nature of attacks. However, HAE is rare, with an incidence of 1:50,000, and many patients struggle to be diagnosed while still being vulnerable to attacks.1,4 HAE can also affect patients’ long-term life decisions because symptoms and lack of adequate treatment can interfere with work duties and influence careers and personal life.5 Patients like Martin experience days when HAE affects their work, at the same time as enduring unpleasant swelling and attacks for decades before being diagnosed:6
“I started getting swelling episodes when I was around 14 years old. Despite having all the classic symptoms of HAE, I was misdiagnosed several times and even had an exploratory laparotomy to try to find a cause for my abdominal pain and distention. A correct diagnosis wasn’t made until I moved to the UK from Africa, 19 years later.”6
A 2014 audit of 376 patients in the UK from across 14 centres in England, Scotland and Wales found that 55 deaths had occurred as a result of HAE attacks in 33 families, which highlights the potentially lethal consequences of this disease.7 The same study also found that there were significant diagnostic delays for both types of HAE, with an average waiting time of 10 years for type I HAE and 18 years for type II HAE.7 The impact of HAE on quality of life was rated as moderate or severe by 37% of adult patients.7
Four years later, a 2018 survey of almost 150 patients concluded that, despite medical and technological advances, there were still long diagnostic delays and patients were still experiencing attacks with significant frequency, both with and without prophylaxis, which negatively impacted their quality of life.1 The results showed that although HAE treatment has improved, diagnostic challenges remain.1
Watch this HAE Burden of Illness mini clip to hear Martin talking about his experience.
There were significant diagnostic delays for both types of HAE, with an average waiting time of 10 years for type I HAE and 18 years for type II HAE.7 The impact of HAE on quality of life was rated as moderate or severe by 37% of adult patients.7
- Banerji A, et al. Hereditary angioedema from the patient's perspective: A follow-up patient survey. Allergy Asthma Proc 2018;39:212–23.
- Savarese L, et al. Psychology and hereditary angioedema: A systematic review. Allergy Asthma Proc 2021;42:e1–7.
- Otani IM, et al. Emergency department management of hereditary angioedema attacks: Patient perspectives. J Allergy Clin Immunol Pract 2017;5:128–34.
- Pines JM, et al. Recognition and differential diagnosis of hereditary angioedema in the emergency department. J Emerg Med 2021;60:35–43.
- Aygören-Pürsün E, et al. Socioeconomic burden of hereditary angioedema: Results from the hereditary angioedema burden of illness study in Europe. Orphanet J Rare Dis 2014;9:99.
- Patient interviews. Difficulties with the diagnosis of HAE. A film produced by Takeda for the Rare Disease Hub 2021. Available at: https://www.rarediseasehub.co.uk/resources/difficulties-with-the-diagnosis-of-hae/. Accessed February 2022.
- Jolles S, et al. A UK national audit of hereditary and acquired angioedema. Clin Exp Immunol 2014;175:59–67.