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Hereditary Angioedema (C1 Esterase Deficiency), Pediatric

Barry J. Pelz, MD and Anna B. Fishbein, MD, MSc Reviewed 10/2018
 


BASICS

DESCRIPTION

Hereditary angioedema (HAE) is an autosomal dominant condition characterized by recurrent, unpredictable, and potentially life-threatening swelling. The swelling results from excess ...

DIAGNOSIS

  • Decide if symptoms consistent with HAE; if so, laboratory testing should be used to confirm the diagnosis.

  • Any of the following symptoms may be present:

    • Recurrent “attacks” of angioedema worse...

TREATMENT

GENERAL MEASURES

  • Assessment and protection of the upper airway is most important in the setting of an acute attack.

  • Patients may require intubation if airway patency cannot be maintained.

MEDICATION

ONGOING CARE

FOLLOW-UP RECOMMENDATIONS

  • Patients should be seen at least annually.

  • Education should be provided to the patient and patient’s family regarding the disease.

  • Testing family members should be ...

ADDITIONAL READING

  • Frank MM, Zuraw B, Banerji A, et al. Management of children with hereditary angioedema due to C1 inhibitor deficiency. Pediatrics.  2016;138(5):e20160575. [View Abstract on Ovi...

CODES

ICD9

  • 277.6 Other deficiencies of circulating enzymes

  • 277.6 Other deficiencies of circulating enzymes

ICD10

D84.1 Defects in the complement system 

SNOMED

  • 82966003 Hereditary angioneurotic edema (disor...

FAQ

  • Q: What is a good screening test for HAE?

  • A: C4 is a good screening test. C1 inhibitor functional and quantitative assays are readily available from commercial labs and are the definitive tests of ...

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