Understanding HAE

Dariela, a real HAE patient, helps prevent her attacks with CINRYZE.

What is HAE?

Hereditary angioedema (HAE) is a rare, potentially life-threatening genetic disorder. In most of the cases, HAE is caused by the deficiency or dysfunction of C1 esterase inhibitor (C1-INH).1-3 HAE can cause swelling attacks in the skin/subcutaneous tissue, gastrointestinal tract, and upper airways, some of which may be painful and functionally disabling.1,3,4

HAE affects about 1 in 10,000 to 50,000 people5 and is usually inherited, but it can manifest spontaneously from a genetic mutation.6

Genetic disease6

75%
Inherited gene
25%
Spontaneous
mutation

Types of HAE

There are two major subtypes of HAE, which present with the same signs and symptoms1:

85%

Type I

Characterized by low levels of antigenic and functional C1 esterase inhibitor

15%

Type II

Characterized by normal antigenic and low functional levels of C1 esterase inhibitor

HAE symptoms

Attacks can be unpredictable, often occurring without a known trigger, and can migrate to other parts of the body during a single episode.1,4

The severity and frequency of HAE attacks vary greatly from patient to patient and can also change over time.1,2 Before an attack, some patients may experience a prodrome, often a tingling sensation in the affected area. HAE attacks usually present without urticaria or pruritus.1 When untreated, the swelling in an HAE attack typically increases over a 24-hour period and then gradually subsides during the next 48–72 hours.1

Triggers

Though each person will have a unique experience with HAE, some known triggers are:

  • Stress4
  • Physical trauma, surgery, or a dental procedure2,4
  • Infection2,4
  • Hormonal influences10
  • Mechanical pressure7

HAE attacks can have consequences

HAE attacks can be debilitating and, in the case of laryngeal attacks, potentially life threatening.4 On average, an untreated patient will experience 2 to 4 attacks per month,1 usually lasting 2 to 5 days each.3,11

  • About 75% of patients experience an attack at least once a year*8
  • In a survey from 2010, 19-24% of patients underwent unnecessary procedures as a result of misdiagnosis, including removal of appendix‡12
  • About 50% of HAE patients experience at least one laryngeal attack in their lifetime*7,8

Every patient with HAE, even those who have only experienced attacks in other locations, is still at risk for laryngeal attacks.1

* According to a survey of 209 patients
‡ In a survey of 313 patients

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References

  1. Zuraw BL. Clinical practice. Hereditary angioedema. N Engl J Med. 2008;359(10):1027–1036.
  2. Zuraw BL, Banerji A, Bernstein JA, et al. US Hereditary Angioedema Association Medical Advisory Board 2013 recommendations for the management of hereditary angioedema due to C1 inhibitor deficiency. J Allergy Clin Immunol Pract. 2013;1(5):458-467.
  3. Cicardi M, Bork K, Caballero T, et al. Evidence-based recommendations for the therapeutic management of angioedema owing to hereditary C1 inhibitor deficiency: consensus report of an International Working Group. Allergy. 2012;67(2):147-157.
  4. Banerji A. The burden of illness in patients with hereditary angioedema. Ann Allergy Asthma Immunol. 2013;111(5):329–336.
  5. Longhurst HJ, Bork K. Hereditary angioedema: causes, manifestations and treatment. Br J Hosp Med (Lond). 2006;67(12):654–657.
  6. Altman KA. Hereditary angioedema: a brief review of new developments. Curr Med Res Opin. 2014;30(5):923-930.
  7. Agostoni A, Aygören-Pürsün 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–S131.
  8. Bork K, Meng G, Staubach P, Hardt J. Hereditary angioedema: new findings concerning symptoms, affected organs, and course. Am J Med. 2006;119(3):267-274.
  9. Bork K, Staubach P, Eckardt AJ, Hardt J. Symptoms, course, and complications of abdominal attacks in hereditary angioedema due to C1 inhibitor deficiency. Am J Gastroenterol. 2006;101(3):619–627.
  10. Nielsen EW, Gran JT, Straume B, Mellbye OJ, Johansen HT, Mollnes TE. Hereditary angio-oedema: new clinical observations and autoimmune screening, complement and kallikrein-kinin analyses. J Intern Med. 1996;239(2):119-130.
  11. Lumry WR, Castaldo AJ, Vernon MK, Blaustein MB, Wilson DA, Horn PT. The humanistic burden of hereditary angioedema: Impact on health-related quality of life, productivity, and depression. Allergy Asthma Proc. 2010;31(5):407–414.
  12. Lunn ML, Santos CB, Craig TJ. Is there a need for clinical guidelines in the United States for the diagnosis of hereditary angioedema and the screening of family members of affected patients? Ann Allergy Asthma Immunol. 2010;104(3):211–214.

Definition: