An evaluation of tests used for the diagnosis and monitoring of C1 inhibitor deficiency: normal serum C4 does not exclude hereditary angio‐oedema

• Published in: Clinical and experimental immunology Vol. 149; no. 3; pp. 513 - 516
• Main Authors: Tarzi, M. D., Hickey, A., Förster, T., Mohammadi, M., Longhurst, H. J.
• Format: Journal Article
• Language: English
• Published: Oxford, UK Blackwell Publishing Ltd 01.09.2007; Blackwell; Blackwell Science Inc
• Subjects: Adult; Aged; Analytical, structural and metabolic biochemistry; Angioedema - diagnosis; Angioedema - genetics; Angioedema - immunology; angio‐oedema; Biological and medical sciences; Biomarkers - blood; C1 inhibitor deficiency; Child; Complement C1 Inhibitor Protein - analysis; Complement C1 Inhibitor Protein - genetics; Complement C1 Inhibitor Protein - immunology; Complement C4 - analysis; False Negative Reactions; Female; Fundamental and applied biological sciences. Psychology; HAE; Humans; Male; Molecular biophysics; Mutation; Reference Values; Sensitivity and Specificity; Translational Studies; Allergy; Immunopathology; Skin disease; Complement C1; Deficiency; Use; Cl inhibitor deficiency; Biochemistry; Biophysics; Hereditary; HAE; angio-oedema; Angioneurotic edema; Surveillance; Serum; Inhibitor; Diagnosis; Molecular biology

Summary Reduced levels of serum C4 have been considered a ubiquitous finding in hereditary angio‐oedema (HAE), and consequently low C4 is often used to ‘request manage’ access to C1 inhibitor assays in the United Kingdom. However, in our experience normal C4 may occasionally be compatible with HAE....