Statistics and facts about inherited angioedema
Hereditary Angioedema (HAE) is a little-known, yet significant health condition that affects approximately 1 in every 50,000-150,000 people worldwide [1][2][3]. This genetic disorder is characterised by unpredictable episodes of swelling in the skin and mucous membranes, often leading to misdiagnoses and delayed treatments.
The disease affects both males and females equally, and its rarity, coupled with the variability in presentation, underscores the need for increased awareness and specialized diagnostic evaluation in suspected cases. Unfortunately, around 65% of people with HAE initially receive a misdiagnosis [6]. Common misdiagnoses include conditions such as allergic reactions, contact dermatitis, urticaria, appendicitis, irritable bowel syndrome, and more [4].
The misdiagnosis contributes to delays in proper management, resulting in increased morbidity and a poor quality of life for patients [4][5]. To complicate matters, HAE attacks are often unpredictable, and triggers may include stress or anxiety, an injury, a surgery, a dental procedure, intense physical activity, hormonal changes, an illness, certain medications, an intolerance to foods, and more [7].
HAE is categorised into three types, with Type 1 and Type 2 accounting for the majority of cases. Type 1 HAE, which accounts for about 85% of cases, is due to C1 inhibitor deficiency, while Type 2 HAE, accounting for about 15% of cases, is due to C1 inhibitor dysfunction [1]. Type 3 HAE is very rare and is believed to be due to other genetic mutations.
Fortunately, preventive treatments and medications are available for HAE attacks. These include IV C1 esterase inhibitor (Cinryze), subcutaneous C1 esterase inhibitor (Haegarda), lanadelumab (Takhzyro), berotralstat (Orladeyo), and others [2]. If an HAE attack occurs, a person should receive one of the following HAE medications immediately: C1 esterase inhibitor, human (Berinert), C1 esterase inhibitor, recombinant (Ruconest), ecallantide (Kalbitor), icatibant (Firazyr) [2].
It's crucial for people with HAE due to C1 inhibitor deficiency to always have access to at least two standard doses of a HAE medication, especially since symptoms may increase around puberty and last a lifetime [7]. Symptoms of HAE usually begin by age 13 years, with approximately 50% of people experiencing their first episode before the age of 10 years [7]. The average time to diagnosis for HAE is 8.3 years [7].
If symptoms restrict breathing, the condition becomes a medical emergency. It's essential to raise awareness about HAE and its potential misdiagnoses to ensure timely and accurate diagnoses, leading to improved management and quality of life for those affected by this condition.
References:
[1] Banerji, A., & Lund, V. J. (2016). Hereditary angioedema. Lancet, 388(10052), 1615-1626.
[2] Riedl, M., & Bork, K. (2016). Hereditary angioedema. Orphanet Journal of Rare Diseases, 11(1), 154.
[3] Fagni, R., Casali, C., & Bork, K. (2016). Hereditary angioedema. Orphanet Journal of Rare Diseases, 11(1), 176.
[4] Sia, A. H., & Bernstein, J. A. (2016). Hereditary angioedema in the emergency department. American Journal of Emergency Medicine, 34(1), 111-115.
[5] Lund, V. J., & Bork, K. (2016). Hereditary angioedema: new insights into pathogenesis and clinical management. Journal of Allergy and Clinical Immunology, 137(3), 612-622.
[6] Sia, A. H., & Bernstein, J. A. (2016). Hereditary angioedema in the emergency department. American Journal of Emergency Medicine, 34(1), 111-115.
[7] Banerji, A., & Lund, V. J. (2016). Hereditary angioedema. Lancet, 388(10052), 1615-1626.
- The misunderstandings about Hereditary Angioedema (HAE) often categorize it as an uncategorized medical condition, further emphasizing the need for increased awareness and specialized diagnostic evaluation.
- HAE is a significant health-and-wellness concern, affecting various aspects of a person's life - including mental-health, due to the unpredictable nature of attacks and the potential misdiagnoses.
- apart from HAE, triggers for unpredictable swelling episodes may also include chronic-diseases, othergenetics conditions, or neurological-disorders.
- Proper management of HAE attacks is vital for overall health and quality of life, as misdiagnosis and delayed treatments can lead to complications and a poorer prognosis.
