The American Journal of Medicine
Volume 121, Issue 11 , Pages 949-951 , November 2008

Hereditary Angioedema with Normal C1 Inhibitor

  • Nilesh N. Patel, MD

      Affiliations

    • Department of Medicine, Citrus Valley Medical Centers, West Covina, Calif
    • Corresponding Author InformationRequests for reprints should be addressed to Nilesh N. Patel, MD, 2694 East Garvey Avenue south, #393, West Covina, CA 91791
    • ,
  • Devesh N. Patel, MD

      Affiliations

    • Department of Medicine, Roger Williams Medical Center (Brown University), Providence, RI

References 

  1. Temino VM, Peebles RS. The spectrum and treatment of angioedema. Am J Med. 2008;121:282–2864
  2. Nzeako U, Frigas E, Tremaine WJ. Hereditary angioedema: a broad review for clinicians. Arch Intern Med. 2001;161:2417–242920
  3. Bowen T, Cicardi M, Farkas H, et al. Canadian 2003 International Consensus Algorithm for the Diagnosis, Therapy, and Management of Hereditary Angioedema. J Allergy Clin Immunol. 2004;114:629–637
  4. Bork K, Barnstedt SE, Koch P, Traupe H. Hereditary angioedema with normal C1-inhibitor activity in women. The Lancet. 2000;56:213–217
  5. Binkley KA, Davis A. Clinical, biochemical, and genetic characterization of a novel estrogen dependent inherited for angioedema. J Allergy Clin Immunol. 2000;106:546–550
  6. Bork K, Gul D, Hardt J, Dewald G. Hereditary angioedema with normal C1 inhibitor: clinical symptoms and course. Am J Med. 2007;120:987–99211
  7. Dewald G, Bork K. Missense mutations in the coagulation factor XII (Hageman factor) gene in hereditary angioedema with normal C1 inhibitor. Biochem Biophys Res Commun. 2006;343:1286–1289
  8. Cichon S, Martin L, Hennies HC, et al. Increased activity of coagulation factor XII (Hageman factor) causes hereditary angioedema type III. Am J Hum Genet. 2006;79:1098–1104
  9. Bork K, Gul D, Dewald G. Hereditary angio-oedema with normal C1 inhibitor in a family with affected women and men. Brit J Derm. 2006;154:542–5453
  10. Martin L. Hereditary angioedema with normal C1 inhibitor gene in a family with affected women and men is associated with the p.Thr328Lys mutation on the F12 gene. J Allergy Clin Immunol. 2007;120:975–9774
  11. Gupta S, Yu F, Klaustermeyer WB. New variant hereditary angioedema in three brothers with normal C1 esterase inhibitor level and function. Allergy. 2004;59:557–558

 Conflict of interest: None; this manuscript is original, unpublished and not submitted elsewhere during the period of review. Both the authors have contributed to this paper.

PII: S0002-9343(08)00834-6

doi: 10.1016/j.amjmed.2008.06.042

The American Journal of Medicine
Volume 121, Issue 11 , Pages 949-951 , November 2008

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