Learn more about HAE

Hereditary angioedema (HAE) is a rare genetic disorder that results in recurring attacks of swelling in parts of the body.1,2,3 HAE mainly affects the extremities, face, abdomen, and throat. Less frequently, HAE can cause life-threatening attacks, due to obstruction in the upper airway (throat).1,2,4,5

Swelling Attacks

Individuals with HAE experience recurring attacks of swelling which vary unpredictably for each individual affected with respect to severity and frequency.3,7 Past attacks do not predict severity of future attacks or whether the airway may become involved.6

Signs and Triggers

In many cases, swelling attacks occur spontaneously.1,15 However, swelling attacks can follow triggers such as trauma, infections, stress, dental work, or surgery.5,6,8,9,15 In women, attacks can be exacerbated during menstruation or pregnancy or by the use of an oral contraceptive containing estrogen.10

Impact of HAE

HAE impacts patients’ ability to perform daily activities both during and between swelling attacks.7,11,12 Patients are estimated to miss an average of 20 days of work or school per year due to HAE.12 People living with HAE report substantial anxiety about future attacks, traveling, and passing HAE to their children.7

Diagnosis of HAE

Diagnosing HAE can be challenging. Since HAE is rare, many doctors may never see a patient with HAE, which can lead to delayed diagnosis or misdiagnosis for some patients.7,9,16

HAE is usually passed down through families, so your doctor will likely ask if anyone else in your family has been diagnosed.9

To know for certain if you have HAE, your doctor may also perform a blood test to measure protein levels. Measuring levels of the proteins C4 and C1-INH will not only help determine if you have HAE, but will also help identify the type.9

Management of HAE

There is currently no cure for HAE, but there are medicines available.9 Please remember to talk with your healthcare provider about your medical condition and your treatment options.

Additional Information

You can find more information about HAE from the International Patient Organization for C1 Inhibitor Deficiencies (HAEi) at www.haei.org and its member organization, the U.S. Hereditary Angioedema Association (HAEA) at www.haea.org.

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References

  • Donaldson V, Evans R. A biochemical abnormality in hereditary angioneurotic edema: absence of serum inhibitor of C1-esterase. Am J Med. 1963; 35: 37-44.
  • Bork K, et al. Hereditary angioedema: New findings concerning symptoms, affected organs, and course. Am J Med. 2006; 119(3): 267-74.
  • Bork K, Davis-Lorton M. Overview of hereditary angioedema caused by C1-inhibitor deficiency: assessment and clinical management. Eur Ann Allergy Clin Immunol. 2013; 45 (1): 7-16.
  • Bork K, et al. Asphyxiation by laryngeal edema in patients with hereditary angioedema. Mayo Clin Proc. 2000; 75: 349-354.
  • Bork K, et al. Clinical studies of sudden upper airway obstruction in patients with hereditary angioedema due to C1 esterase inhibitor deficiency. Arch Intern Med. 2003; 163: 1229-1235.
  • Bork K. Fatal laryngeal attacks and mortality in hereditary angioedema due to C1-INH deficiency. JAACI. 2012; DOI: http://dx.doi.org/10.1016/j.jaci.2012.05.055.
  • Caballero T, et al. The humanistic burden of hereditary angioedema: Results from the Burden of Illness Study in Europe. Allergy and Asthma Proceedings. 2013; 34: 1–7, DOI: 10.2500/aap.2013.34.3685.
  • Nussberger. Plasma bradykinin in angio-oedema. The Lancet. 1998;351: 1693–97.
  • Craig T, et al. WAO guideline for the management of hereditary angioedema. World Allergy Organ Journal. 2012; 5 (12): 182-99.
  • Bouillet L, et al. Disease expression in women with hereditary angioedema. Am J Obstet Gynecol. 2008; 199: 484.e1-484.e4.
  • Lumry W, et al. The humanistic burden of hereditary angioedema: impact on health-related quality of life, productivity, and depression. Allergy Asthma Proc. 2010; 31: 407–414, DOI: 10.2500/aap.2010.31.3394
  • 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.
  • Agostoni A, Aygoren-Pursun E, Binkley KE, et al. Hereditary and acquired angioedema: problems and progress: proceedings of the third C1 esterase inhibitor deficiency workshop and beyond. J Allergy Clin Immunol. 2004; 114(3 Suppl): S51-131
  • Bowen T, Cicardi M, Bork K, et al. Hereditary angioedema: a current state-of-the-art review, VII: Canadian Hungarian 2007 International Consensus Algorithm for the Diagnosis, Therapy, and Management of Hereditary Angioedema. Ann Allergy Asthma Immunol. 2008; 100(1 Suppl 2): S30-40
  • Kemp J, Craig T. Variability of prodromal signs and symptoms associated with hereditary angioedema attacks: A literature review. Allergy and Asthma Proceedings. 2009; 30: 493–499, 2009; DOI: 10.2500/aap.2009.30.3278
  • Banerji A. The burden of illness in patients with hereditary angioedema. Ann Allergy Asthma Immunol. 2013; 111(5):329-36.