title: Misdiagnosis of hereditary angio-oedema type 1 and type 2.
abstract: BACKGROUND
  Hereditary angio-oedema is a rare, life-threatening, autosomal dominant condition caused by deficiency (type 1) or dysfunction (type 2) of complement C1 inhibitor. Serological assays to measure C1 inhibitor concentration and function are widely available. However, expert interpretation may not be.
  
  
  OBJECTIVE
  To review all cases within three NHS Trusts with a putative diagnosis of hereditary angio-oedema.
  
  
  METHODS
  Review of laboratory results and clinical notes of 44 cases of presumed hereditary angio-oedema.
  
  
  RESULTS
  Audit revealed that 11 of 42 (26%) cases had been incorrectly considered to have a diagnosis of hereditary angio-oedema. Two of 44 had insufficient data to assess. All 11 had low functional C1 inhibitor recorded at presentation.
  
  
  RESULTS
  available in these 11 cases at the time of diagnosis showed a normal or borderline C4 level (>or= 50% of mean normal, in contrast to hereditary angio-oedema, where C4 was less than 40% of mean normal) indicating that the low C1 inhibitor levels were a result of sample decay. Cases incorrectly diagnosed were predominantly female and had a mean age at presentation of 40 years (compared with 22 years for type 1 hereditary angio-oedema). Six of the 11 cases were offered C1 inhibitor concentrate (pooled plasma product) as treatment.
  
  
  CONCLUSIONS
  We recommend that all suspected cases of hereditary angio-oedema are reviewed, that specialist advice is sought before making the diagnosis and that the diagnosis is only made after initial abnormal serology is confirmed on a second sample.
authors.affiliation: Department of Immunology and Immunogenetics, Southmead Hospital, Westbury-on-Trym, Bristol, BS10 5NB, UK. gompels_m@southmead.swest.nhs.uk
authors.forename: M M
authors.initials: MM
authors.lastname: Gompels
authors.forename: R J
authors.initials: RJ
authors.lastname: Lock
authors.forename: D J
authors.initials: DJ
authors.lastname: Unsworth
authors.forename: S L
authors.initials: SL
authors.lastname: Johnston
authors.forename: C B
authors.initials: CB
authors.lastname: Archer
authors.forename: S V
authors.initials: SV
authors.lastname: Davies
mesh_terms: D000293:Adolescent; D000328:Adult; D000367:Age Factors; D000799:Angioedema / Q000175:diagnosis* / Q000235:genetics*; D015415:Biomarkers / Q000097:blood; D002648:Child; D002675:Child, Preschool; D003174:Complement C1 Inactivator Proteins; D050718:Complement C1 Inhibitor Protein; D003181:Complement C4 / Q000032:analysis; D003951:Diagnostic Errors; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D008485:Medical Audit; D008875:Middle Aged; D012008:Recurrence; D012189:Retrospective Studies; D015843:Serpins / Q000097:blood / Q000172:deficiency
chemical_list: D015415:Biomarkers; D003174:Complement C1 Inactivator Proteins; D050718:Complement C1 Inhibitor Protein; D003181:Complement C4; C469952:SERPING1 protein, human; D015843:Serpins