C1 inhibitor deficiency

Angioedema without wheals 
Idiopathic
Drug 一induced
C 1 esterase inhibitor deficiency
 A  low  C4  level  (< 30%  mean  normal)  has  a very  high  sensitivity  but  low  specificity  for  C1  inh  deficiency.

  • Hereditary: C1q level normal
  1. Type 1: 85%: AD(mutant gene, often duplication, deletions, or frameshifts), C1 INH amount decrease
  2. Type 2: 15%: dominant (point mutation): C1 INH level normal or increased, functional decrease

  • Acquired: C1q level decrease
  1. B cell lymphoma or connective tissue disease (SLE, cryoglobulinemia): consumption of C1 INH
  2. Autoimmune disorder: circulating IgG Ab to C1 INH
 British Journal of Dermatology 2007 157, pp1116–1123

from http://www.drskin.com.tw/Articles.asp?AC1_ID=5&BlockName=ArtView&AT_ID=1293



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