Updated: 10/22/2018

Hereditary Angioedema

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Snapshot
  • A 15-year-old boy is rushed to the emergency department by his mother due to increased difficulty with breathing. His mother says that he does not have a food allergy and that this has happened to him before after undergoing a dental procedure. She reports that in the father's side of the family, they suffer from these episodes of swelling but usually self resolve. On physical exam, the patient has swelling of the lips, tongue, and skin around the face and arms. He is immediately sedated and subsequently intubated and treated for anaphylaxis which does not improve his symptoms. Laboratory testing is significant for decreased C4 and C1 inhibitor levels as well as normal C1q levels.
Introduction
  • Clinical definition
    • hereditary C1 inhibitor deficiency that leads to recurrent angioedema without urticaria or pruritus
      • triggers include
        • physical
          • dental work
          • surgery
          • intubation
        • medical
          • angiotensin-converting enzyme (ACE) inhibitors
          • tamoxifen
          • estrogen-containing medications (e.g., hormone replacement therapy and oral contraceptives)
  • Epidemiology
    • incidence
      • 0.001%-0.003% of the general population
    • demographics
      • typically begins in childhood and worsens during puberty
    • location
      • skin, upper airway, and gastrointestinal tract
    • risk factors
      • family history
  • Pathophysiology
    • pathobiology
      • C1 inhibitor deficiency (hereditary angioedema type I) or dysfunction (hereditary angioedema type II) results in
        • unchecked bradykinin production
          • C1 inhibitor inhibits kallikrein and active factor XII, which is involved in the cleavage of high molecular weight kininogen into bradykinin
        • decreased serum C4 levels
          • due to increased C1 complex cleavage of C4 in the absence or dysfunction of C1 inhibitor
  • Genetics
    • inheritance pattern
      • autosomal dominant
  • Associated conditions
    • possibly associated with an increased incidence of autoimmune disease
  • Prognosis
    • variable
      • after the attack occurs, they may recur throughout the patient's life
        • attack frequency can be reduced with appropriate therapy
Presentation
  • Symptoms
    • prodromal symptoms
      • fatigue
      • nausea and/or other gastrointestinal symptoms
      • flu-like symptoms
    • angioedema without urticaria or pruritus affecting the
      • skin
        • swelling of the extremities, face, and genitals
          • can affect any area
      • upper airway
        • swelling of the lips, tongue, uvula, soft palate, and larynx
      • gastrointestinal
        • bowel wall edema resulting in
          • gastrointestinal colic, nausea, vomiting, and/or diarrhea
  • Physical exam
    • skin
      • erythema marginatum may be seen
    • upper airway
      • voice changes or horseness
      • stridor
      • shortness of breath
    • gastrointestinal
      • abdominal tenderness
      • ascites
      • signs of small bowel obstruction
Studies
  • Labs
    • ↓ C4 and C2 levels
    • normal C1q levels
    • C1 inhibitor levels
      • low level (hereditary angioedema type I)
      • normal level (hereditary angioedema type II)
Differential
  • Drug-induced anaphylaxis
  • Contact dermatitis
  • Atopic dermatitis
  • Superior vena cava syndrome
Treatment
  • Conservative
    • securing airway, breathing, and circulation
      • indication
        • for the treatment of acute attacks of angioedema
          • it is difficult to differentiate anaphylaxis and angioedema
            • epinephrine, corticosteroids, and antihistamines are not effective in hereditary angioedema
  • Medical
    • plasma-derived C1 inhibitor
      • indication
        • acute treatment of herediatry angioedema
        • short-term prophylaxis in patients with hereditary angioedema who will be exposed to a trigger (e.g., dental procedures and surgery)
        • long-term prophylactic treatment of hereditary angioedema
      • other medications that can be used in the acute treatment of hereditary angioedema includes
        • plasma kallikrein inhibitorn (ecallantide) 
        • bradykinin receptor antagonist
    • attenuated androgens (e.g., danazol)
      • indication
        • for long-term prophylactic treatment of hereditary angioedema
Complications
  • Asphyxiation can result in death
  • ≥ 30% mortality in patients with laryngeal angioedema
    • can present with decreased inspiratory and expiratory rate and should be treated promptly w/epinephrine (histaminergic angioedema) 
 

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