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Related Experiment Videos

C1 inhibitor deficiency: consensus document.

M M Gompels1, R J Lock, M Abinun

  • 1Department of Immunology and Immunogenetics, North Bristol NHS Trust, Southmead Hospital, Bristol, UK. mark.gompels@nbt.nhs.uk

Clinical and Experimental Immunology
|February 26, 2005
PubMed
Summary
This summary is machine-generated.

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Hereditary angio-oedema, caused by C1 inhibitor deficiency, presents with recurrent swelling. Diagnosis involves low C4 and C1 inhibitor levels, with treatments ranging from concentrates to androgens.

Area of Science:

  • Immunology
  • Genetics

Background:

  • Hereditary angio-oedema (HAE) is a rare autosomal dominant disorder.
  • It results from reduced C1 inhibitor (C1-INH) function due to genetic defects.
  • Clinical manifestations include recurrent angio-oedema, potentially affecting the larynx or gastrointestinal tract.

Framework:

  • Diagnosis is confirmed by low serum C4 and absent/reduced C1 inhibitor levels or function.
  • Attacks can be triggered by trauma, infection, or other stimuli.
  • Management strategies are stratified based on attack severity and swelling location.

Implementation:

  • Acute treatment for severe attacks involves C1 inhibitor concentrate infusion.
  • Minor attacks may be treated with attenuated androgens or tranexamic acid.

Related Experiment Videos

  • Prophylaxis utilizes attenuated androgens and/or tranexamic acid.

    • Implications:

    • New therapies in clinical trials include engineered C1-INH, kallikrein inhibitors, and bradykinin B2 receptor antagonists.
    • Guidelines address diagnosis, management, prophylaxis, emergency care, and special populations (children, pregnant women, travelers).
    • Optimal service specifications are crucial for comprehensive HAE care.