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Hereditary Angioedema

Genetic disease causing recurrent attacks of subcutaneous and submucosal swelling.

Written by: Saygı Hospital Health Guide Editorial Board
Last updated:

This content has been compiled by the Saygı Hospital Health Guide Editorial Board and is periodically reviewed by a specialist physician.

References (5)

This content is for informational purposes only and does not constitute medical advice. You can book an appointment at our Dermatoloji department. Book Appointment →

What is Hereditary Angioedema?

Hereditary angioedema (HAE) is caused most commonly by mutations in the SERPING1 gene that result in deficient (type I) or dysfunctional (type II) C1 esterase inhibitor protein, leading to uncontrolled bradykinin generation and increased vascular permeability.

Patients experience unpredictable attacks of swelling that can affect the face, lips, larynx, hands, feet, genitalia and gastrointestinal tract. Laryngeal attacks are potentially life-threatening due to airway obstruction; abdominal attacks mimic acute abdomen and lead to unnecessary surgery.

Unlike histaminergic angioedema, the swelling is not associated with urticaria or itching and does not respond to antihistamines, corticosteroids or epinephrine. Specific HAE-targeted therapies are required.

Symptoms

Recurrent non-pitting swelling of face, lips, hands, feet
Painful abdominal attacks (cramping, vomiting, diarrhea)
Laryngeal swelling (hoarseness, stridor, dyspnea)
No urticaria or itching
Triggered by trauma, dental work, stress, estrogens, ACE inhibitors
Family history of similar attacks
Prodromal erythema marginatum (in some patients)

Risk Factors

Family history (autosomal dominant, 75% with affected parent, 25% de novo)
Estrogens (oral contraceptives, hormone therapy)
ACE inhibitors
Trauma, surgery, dental procedures
Infections (especially H. pylori)
Stress and emotional factors
Pregnancy

When to See a Doctor?

If you experience any of the following symptoms, seek medical attention promptly:

  • Recurrent unexplained swelling without itching
  • Unexplained recurrent abdominal pain attacks
  • Hoarseness or stridor with swelling
  • Family history of similar episodes
  • Failure to respond to antihistamines or steroids
  • Any laryngeal involvement (emergency)

Treatment Methods

01
On-demand therapy: C1 inhibitor concentrate, icatibant, ecallantide
02
Long-term prophylaxis: lanadelumab, berotralstat, subcutaneous C1 inhibitor
03
Short-term prophylaxis before surgery or dental work
04
Avoidance of estrogens and ACE inhibitors
05
Patient self-administration training
06
Trigger avoidance and stress management
07
Genetic counseling and family screening

Which Department to Visit?

You can visit our Dermatoloji department for these complaints. Our specialist physicians will create the most suitable treatment plan for you.

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Health Disclaimer: The information on this page is prepared for general informational purposes only. It does not replace medical diagnosis and treatment. Please consult your physician for your complaints. Saygı Hospital does not accept responsibility for actions taken based on the information on this page.