C1 Esterase inhibitor deficiency

  • See also

    Emergency airway management 

    Can't intubate can't oxygenate 

    Anaphylaxis

    Key points

    1. Angioedema in hereditary angioedema (HAE) is non-pitting swelling not associated with urticaria, itching or redness
    2. Life-threatening laryngeal oedema can occur at any age
    3. Children diagnosed with HAE should have a personalised ASCIA HAE management plan explaining when and how to treat attacks
    4. Early management of HAE attacks with specific treatments has been shown to improve outcomes, efficacy and quality of life. Antihistamines, corticosteroids and adrenaline have no role in the management of HAE related angioedema

    Background

    • HAE is a rare but potentially life-threatening autosomal dominant disorder due to absolute (HAE-C1-INH Type 1 -- 85% of cases) or functional (HAE-C1-INH Type 2) deficiency of C1-esterase inhibitor (C1-INH)
    • HAE attacks are recurrent, often unpredictable, episodes of painful, non-pruritic and non-pitting angioedema (swelling)
    • In an acute attack, children may develop swelling in one or more sites involving subcutaneous tissues or submucosa of the gut and upper respiratory tract
      • Cutaneous angioedema: over 90% develop non-pitting, non-pruritic swelling affecting face, limbs (especially hands and feet) and genitals. The first few attacks are usually associated with pain and dysfunction
      • Upper airway swelling: may affect oropharynx (tongue, soft palate) or larynx and can be life-threatening
      • Abdominal pain: often associated with nausea, vomiting and diarrhoea and can lead to dehydration and collapse
      • Rash: about one third develop an erythema marginatum rash either before or during an attack. This is non-pruritic and non-urticarial
    • Attacks typically peak at 24 hours and resolve over 48-72 hours
    • Can occur spontaneously or may be precipitated by injury (including local trauma, dental or other surgery), infection, psychological stress, medications (especially oestrogen containing and ACE inhibitors), menstruation, vigorous exercise or certain foods
    • HAE symptoms typically first occur between 5-11 years of age; 40% experience a first episode by age 5
    • Early symptom onset may predict a more severe disease course
    • The frequency and severity of a HAE attack may worsen in adolescence, and symptoms typically persist throughout life

    Assessment

    History

    • Family history of HAE is present in 75% of cases
    • Consider trigger (stress, infection, injury)
    • Prodromal symptoms: fatigue, flu-like symptoms, indigestion, tingling or rash (erythema marginatum) may precede onset of swelling

    Examination

    • Airway swelling: tongue, soft palate, uvula
    • Laryngeal oedema: stridor, hoarseness, drooling, altered voice (ask caregivers)
    • Angioedema behind teeth (eg tongue, posterior oropharyngeal, laryngeal) is more likely to progress to airway obstruction than angioedema in front of teeth
    • Facial and limb swelling
    • Confirm absence of redness and itching, which would otherwise suggest diagnosis other than HAE

    Differential diagnoses

    • Allergic reactions and anaphylaxis (see Anaphylaxis)
    • Idiopathic angioedema
    • Drug-induced angioedema
    • Acquired angioedema (exceedingly rare in childhood)

    Management

    Investigations

    • C4 in a suspected acute attack, if no prior HAE diagnosis

    Management of acute attacks

    • Children with diagnosed HAE presenting in an acute attack should have an individualised ASCIA HAE management plan
    • Aims of treatment are to reduce the duration and severity of an attack, minimise functional impairment, reduce morbidity and potential mortality
    • Treatment of any non life-threatening HAE attack should be at the discretion of the child and parent
    • Treatments available are Icatibant (subcutaneous) or C1 esterase inhibitor concentrate (intravenous)
    • Clinical response should be observed within 2 hours. If there is no response after 2 hours, reconsider diagnosis and evaluate for other causes
    • If above treatments are unavailable, consider solvent/detergent treated FFP for laryngeal and/or severe abdominal attacks, though this may have a paradoxical effect and worsen angioedema
    • Consult local allergy/immunology specialist as required

    Acute treatment

    Treatment and administration Age or weight Dosage Precautions and adverse effects
    First line
    C1 esterase inhibitor (C1-INH) concentrate (Berinert®)

    Given via slow IV injection (4 mL/min)
    Any age 20 IU/kg, rounded to nearest 500 IU

    Symptoms usually stabilise in 30 minutes

    Second dose rarely needed but may be given 30 min to 2 hours after first dose (<1% relapse)

    Do not shake the solution; it may denature the protein

    Bradykinin B2 receptor antagonist Icatibant (Cipla)

    Given by slow subcut injection
    <12 kg or <2 years Seek advice from Immunology Injection site reactions (usually mild)
    12-25 kg 10 mg (1 mL)
    26-40 kg 15 mg (1.5 mL)
    41-50 kg 20 mg (2 mL)
    >50 kg 30 mg (3 mL)
    Any weight Second dose can be given 6 hours after first dose (<10% relapse)
    (max 3 doses/24 hours)

    In airway attacks unresponsive to Icatibant, use C1-INH concentrate as rescue treatment
    Second line
    Solvent/detergent treated FFP Any age Consult immunology/haematology (don't delay in emergency and no alternatives available) Common: nausea, pruritus, rash

    Rare: allergic reactions, bronchospasm, cardiorespiratory collapse, fever

    Very rare: arrhythmia, hypertension, thromboembolism

    Management of special clinical features

    • Airway/laryngeal attacks: medical emergency requiring immediate treatment with Icatibant or C1-INH concentrate. Signs of impending airway obstruction should prompt senior involvement/ICU/anaesthetics, ideally with fibre optic-guided intubation and surgical airway skills (see Emergency airway management)
    • Peripheral swelling: significant pain +/- significant disability and/or angioedema involving face or genitals should be treated. Mild swelling that doesn't impact function may not require treatment
    • Abdominal pain: moderate to severe pain, vomiting and/or abdominal distension require C1-INH concentrate administration. If severe, consider fluid resuscitation. Mild pain can be treated with simple analgesia including NSAIDs

    Consider consultation with local paediatric team when

    • First episode of swelling / no previous diagnosis
    • Airway / laryngeal attack
    • No response to medication within 2 hours
    • Relapse to first line treatment

    Consider transfer when

    • Airway / laryngeal attack - children will usually require observation in PICU / HDU setting
    • Immediate life-threatening situation
    • A child requiring care beyond the comfort level of the hospital
    • Inadequate response to acute treatment

    Consider discharge when

    • Following successful emergency treatment, children who have started to improve with peripheral swellings and/or abdominal attacks may be discharged even if peripheral swellings have not fully resolved
    • Any child diagnosed with HAE should have a consultation with an allergy/immunology specialist or clinician with expertise in managing angioedema

    Additional notes

    Short term prophylaxis

    Medication and administration Age and indication Dosage
    First line
    C1-INH concentrate (Berinert® IV) Any age

    1-6 hours prior to any medical, surgical or dental procedure
    20 IU/kg, rounded to nearest 500 IU
    Second line (ONLY if first-line prophylaxis is unavailable)
    Bradykinin B2 receptor antagonist Icatibant (Cipla)

    Given by slow subcut injection
    ≥2 years (if <2 years seek Immunology advice)

    <30 minutes prior to any procedure

    Additional dose available for emergency

    Observation >12 hours post procedure
    <12 kg: seek Immunology advice
    12-25 kg: 10 mg (1 mL)
    26-40 kg: 15 mg (1.5 mL)
    41-50 kg: 20 mg (2 mL)
    >50 kg: 30 mg (3 mL)

    Long term prophylaxis

    Regular medication prescribed by the child's Immunologist to prevent attacks and reduce the burden of disease. Options include oral antifibrinolytics (tranexamic acid), subcutaneous C1-INH concentrate (Berinert® SC) and advanced therapies like plasma kallikrein inhibitors (Lanadelumab) and factor XIIa inhibitors (Garadacimab)

    Investigations

    • In the non-acute setting, screening for HAE may be considered, in consultation with an Immunologist: serum C4 level, C1-INH blood level, C1 functional assay
      • Two sets of complement tests should be obtained, at least 3 months apart
    • Genetic testing is not usually required to confirm the diagnosis
      • Both C1-INH levels and function are difficult to interpret in children <1 year of age and at least 1 set of HAE bloods should be performed after the age of 1
      • If the diagnosis is confirmed, family screening is recommended

    Diagnostic testing profiles for HAE subtypes

    C1-INH function C1-INH protein level C4 protein level
    HAE Type 1
    HAE Type 2 N/↑

    Parent information

    ASCIA HAE

    ASCIA HAE Management Plan

    Last updated May 2025

    Reference List

    1. Australasian Society of Clinical Immunology and Allergy. Hereditary Angioedema (HAE). https://allergy.org.au/patients/immunodeficiencies/hae. (viewed Feb 2025)
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    3. Betschel SD, et al. Hereditary Angioedema: A Review of the Current and Evolving Treatment Landscape. J Allergy Clin Immunol Pract. 2023 Aug;11(8):2315-2325.
    4. Christiansen SC, et al. Pediatric hereditary angioedema: onset, diagnostic delay, and disease severity. Clin Pediatr (Phila) 2016;55:935-42.
    5. Farkas H, 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.
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    8. Levy D, et al. Long-term efficacy of subcutaneous C1 inhibitor in pediatric patients with hereditary angioedema. Ped Allergy Immunol Pulmonol. 2020;33(3):136-141.
    9. Maurer M, et al. The international WAO/EAACI guideline for the management of hereditary angioedema---the 2021 revision and update. Allergy. 2022;77(7):1961 90.
    10. Nanda MK, et al. Clinical Features of Pediatric Hereditary Angioedema. J Allergy Clin Immunol Pract. 2015 ; 3(3): 392--395
    11. Reshef A, et al. Definition, acronyms, nomenclature, and classification of angioedema (DANCE): AAAAI, ACAAI, ACARE, and APAAACI DANCE consensus. J Allergy Clin Immunol 2024;154:398-411
    12. Tachdjian R and Kaplan AP. A Comprehensive Management Approach in Pediatric and Adolescent Patients With Hereditary Angioedema. Clin Pediatr (Phila). 2023;62(9):973-980.
    13. Zuraw B and Farkas, H, Hereditary angioedema (due to C1 inhibitor deficiency): Acute treatment of angioedema attacks. In: UpToDate, Connor RF (Ed), Wolters Kluwer. (viewed Feb 2025)