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what is hereditary angioedema?

 

Get to know the signs and symptoms of hereditary angioedema (HAE) and how to identify the disease in your patients, so that together you can take action.

 

HAE is a rare autosomal dominant disease affecting approximately 1 in 50,000 individuals worldwide.1,3

It causes spontaneous attacks of swelling in various parts of the body.3,4

 

Attacks of swelling are unpredictable in frequency and severity, and they can be life threatening when they occur in the throat.4,5

 

 

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The disease burden of HAE may extend beyond attacks into everyday life. Due to its unpredictable nature, HAE can cause substantial emotional, psychosocial, and quality-of-life impairments for some patients and their caregivers.2,6

spotblock image overview of hereditary angioedema

Share this fact sheet with others in your practice to help familiarise them with the signs and symptoms of HAE

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Common HAE attack locations3,4

The mouth, throat,abdomen, genitals, hands,and feet are common HAE attack locations

 

what can cause hereditary angioedema attacks?

 

There are several different forms of HAE that are currently recognised and genetically identifiable. The two most common are:

 

C1-INH deficiency (Type 1 HAE, HAE-1):

characterised by low antigenic and functional C1-INH levels

C1-INH dysfunction (Type 2 HAE, HAE-2):

characterised by normal or elevated antigenic but low functional 7 C1-INH levels

 

Within the kallikrein-kinin system, C1-INH inhibits the production of bradykinin by interfering with plasma kallikrein activity. Dysregulation of plasma kallikrein activity within the kallikrein-kinin system leads to the cleavage of high-molecular-weight kininogen and excess bradykinin production, which can lead to attacks.8,9

 

Types of HAE4

 

Graph showing 85% of patients have Type 1 HAE and 15% of patients have Type 2 HAE

 

Other forms of HAE that do not involve mutations of C1-INH include:

  • F12 gene mutation (HAE-FXII)7
  • Angiopoietin-1 gene mutation (HAE-ANGPTI)7
  • Plasminogen gene mutation (HAE-PLG)7

 

triggers and prodromal symptoms of hereditary angioedema

While many occur with no identifiable trigger, some HAE attacks may be associated with10:

  • Emotional distress
  • Physical trauma
  • Changes in hormone levels
  • Infection
  • Medication
  • Exposure to cold
  • Non-traumatic tissue compression
  • Prolonged sitting or standing
  • Certain foods

 

Prodromes can be predictive of an attack in some cases and are often described as11-13:

  • Fatigue or malaise
  • Restlessness
  • Nausea
  • Joint pain
  • Cramps
  • Anxiety or mood changes

 

The patient may also experience a prickling sensation, tightness in the skin, or nonpruritic rash called erythema marginatum.12-14

 

Laryngeal swelling is a potential symptom of hereditary angioedema attacks and can be lifethreatening

 

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Attack history is not a predictor of future attack frequency, severity, or location.5

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References: 1. Maurer M, Magerl M, Ansotegui I, et al. The international WAO/EAACI guideline for the management of hereditary angioedema—the 2017 revision and update. Allergy. 2018. doi:10.1111/all.13384. 2. Longhurst H, Bygum A. The humanistic, societal, and pharmaco-economic burden of angioedema. Clin Rev Allerg Immunol. 2016;51(2):230-239. 3. Longhurst HJ, Bork K. Hereditary angioedema: causes, manifestations and treatment. Br J Hosp Med (Lond). 2006;67(12):654-657.
4. Banerji A, Busse P, Christiansen SC, et al. Current state of hereditary angioedema management: a patient survey. Allergy Asthma Proc. 2015;36(3):213-217. 5. Farkas H, Martinez-Saguer I, Bork K, et al. International consensus on the diagnosis and management of pediatric patients with hereditary angioedema with C1 inhibitor deficiency. Allergy. 2017;72(2):300-313. 6. Bygum A, Aygören-Pürsün E, Beusterien K, et al. Burden of illness in hereditary angioedema: a conceptual model. Acta Derm Venereol. 2015;95(6):706-710. 7. Zuraw B. Hereditary angioedema with normal C1 inhibitor. Four types and counting. J Allergy Clin Immunol. 2018;141(3): 884-885. 8. Longhurst H, Cicardi M. Hereditary angioedema. Lancet. 2012;379(9814):474-481. 9. Suffritti C, Zanichelli A, Maggioni L, Bonanni E, Cugno M, Cicardi M. High-molecular-weight kininogen cleavage correlates with disease states in the bradykinin-mediated angioedema due to hereditary C1-inhibitor deficiency. Clin Exp Allergy. 2014;44(12):1503-1514. 10. Caballero T, Maurer M, Longhurst HJ, et al. Triggers and prodromal symptoms of angioedema attacks in patients with hereditary angioedema. J Investig Allergol Clin Immunol. 2016;26(6):383-386. 11. Prematta MJ, Kemp JG, Gibbs JG, Mende C, Rhoads C, Craig TJ. Frequency, timing, and type of prodromal symptoms associated with hereditary angioedema attacks. Allergy Asthma Proc. 2009;30(5):506-511. 12. Rasmussen ER, de Freitas PV, Bygum A. Urticaria and prodromal symptoms including erythema marginatum in Danish patients with hereditary angioedema. Acta Derm Venereol. 2016;96(3): 373-376. 13. Magerl M, Doumoulakis G, Kalkounou I, et al. Characterization of prodromal symptoms in a large population of patients with hereditary angio-oedema. Clin Exp Dermatol. 2014;39(3);298-303. 14. Johnston D. Diagnosis and management of hereditary angioedema. J Am Osteopath Assoc. 2011;111(1):28-36.