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Hereditary angioedema: classification, pathogenesis, and diagnosis.

Aleena Banerji1

  • 1Division of Rheumatology, Allergy and Immunology, Massachusetts General Hospital, Harvard Medical School, Boston, USA. abanerji@partners.org

Allergy and Asthma Proceedings
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Summary

Hereditary angioedema (HAE) is a rare genetic disorder caused by C1 inhibitor deficiency, leading to bradykinin-mediated swelling. Recent advances offer improved diagnosis and management for HAE patients.

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Area of Science:

  • Genetics and Immunology
  • Rare disease research

Background:

  • Hereditary angioedema (HAE) is an autosomal dominant disorder linked to C1 inhibitor deficiency, with over 200 identified gene mutations.
  • While often inherited, 20-25% of HAE cases arise from spontaneous mutations, lacking a family history of swelling.
  • Reduced C1 inhibitor activity triggers complement, contact, fibrinolysis, and coagulation systems, increasing bradykinin and causing swelling episodes.

Purpose of the Study:

  • To review the classification, pathophysiology, clinical presentation, and diagnosis of Hereditary Angioedema (HAE).
  • To provide an update on the management of HAE, considering recent therapeutic advancements.

Main Methods:

  • Literature review of hereditary angioedema (HAE).
  • Analysis of genetic mutations, biochemical pathways, clinical manifestations, and diagnostic criteria for HAE.
  • Examination of current and emerging therapeutic strategies for HAE management.

Main Results:

  • HAE is characterized by recurrent swelling episodes due to elevated bradykinin levels.
  • Triggers include trauma, stress, infection, and certain medications.
  • Diagnosis relies on laboratory tests like C4, C1 inhibitor level, and function.

Conclusions:

  • HAE management has significantly improved with new therapies.
  • Consensus guidelines aid in HAE patient care.
  • Understanding HAE's classification, pathophysiology, and diagnosis is crucial for effective treatment.