Case Report

Hereditary Angioedema Associated with Heterozygous Factor V Leiden Mutation in a Patient with Purpura Fulminans
S. Celikel^a, Y. Buyukasik^b, G. Karakaya^a, A.F. Kalyoncu<sup>a

a</sup>Department of Chest Diseases, Adult Allergy Unit, and
^bDepartment of Hematology, Hacettepe University School of Medicine, Ankara, Turkey

Address of Corresponding Author

Int Arch Allergy Immunol 2007;142:175-178 (DOI: 10.1159/000096611)

  Key Words

• Hereditary angioedema
• Purpura fulminans
• Factor V Leiden mutation
• Thrombosis

  Abstract

Background: Hereditary angioedema (HAE) is an autosomal dominant, quantitative or functional defect of the C1 esterase inhibitor. The main role of the C1 esterase inhibitor is to regulate the activation of the complement system, the contact phase of the intrinsic coagulation system. On the other hand, factor V Leiden is the most common cause of primary and recurrent venous thromboembolism and displays a strong interaction with oral contraceptives. Here we report the case of a patient with HAE associated with the factor V Leiden mutation who had purpura fulminans when put on an oral contraceptive therapy. Case: A 42-year-old woman presented to the emergency room with a history of livid skin changes on her legs during a flight. On physical examination, the vital signs were normal, but there were edemas in her legs. The livid skin changes tended to increase, eventually leading to skin necrosis on the next day. She had a history of a similar episode two months before and experienced both episodes of necrotic skin lesions just after she had been put on a hormone replacement therapy due to irregular menstruations. She also had a history of recurrent angioedema attacks since her childhood, triggered by stress and physical stimulants such as pressure and heat. Subsequent investigations revealed heterozygous factor V mutation, activated protein C resistance and reduced C1 inhibitor levels. Conclusion: Thrombosis is a multifactorial disease. The coexistence of multiple hereditary and acquired factors eases its occurrence. Women with HAE should be screened for the factor V Leiden mutation before pregnancy or the start of a hormone replacement therapy.

Copyright © 2007 S. Karger AG, Basel

  Author Contacts

Correspondence to: Dr. Serhat Celikel
Hacettepe University School of Medicine
Department of Chest Diseases, Adult Allergy Unit
TR-06100 Shhye/Ankara (Turkey)
Tel. +90 312 305 1721, Fax +90 312 310 0809, E-Mail scelikel@gmail.com

  Article Information

Received: March 13, 2006
Accepted after revision: August 7, 2006
Published online: October 27, 2006
Number of Print Pages : 4
Number of Figures : 1, Number of Tables : 0, Number of References : 14