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Hereditary angioedema due to missense mutations in the coagulation factor XII gene - three novel cases
Abstract number: PP-MO-130
Aygören Pürsün1 E., Dewald2 G., Rusicke3 E., Martinez-Saguer3 I., Kreuz3 W.
11Department of Pediatrics, University Hospital, Frankfurt 22Institute for Molecular and Preventive Medicin, University Hospital, Königswinter, Germany 33Department of Pediatrics, University Hospital, Frankfurt
How-to-cite Aygören Pürsün E, Dewald G, Rusicke E, Martinez-Saguer I, Kreuz W. Hereditary angioedema due to missense mutations in the coagulation factor XII gene - three novel cases. Journal of Thrombosis and Haemostasis 2009; Volume 7, Supplement 2: Abstract PP-MO-130
Introduction: Hereditary angioedema attributable to missense mutations in exon 9 of the factor XII (F12) gene (Thr309Lys or Thr309Arg) is a recently recognized clinical entity. It is characterized by recurrent angioedema, particularly affecting females. An increased amidolytic function of factor XII has been suggested in some of these patients. Knowledge about this condition is still sparse. We report three novel cases of hereditary angioedema due to missense mutations in the coagulation factor XII gene.
Patients: In all patients C1- inhibitor deficiency could be excluded. All were of German origin and two had further clinically affected family members.
Case 1. A 24 year old woman presented with recurrent angioedema affecting face, feet and larynx. First manifestation at the age of 19 with oral contraceptive (OC) use. Subsequently frequent angioedema up to twice/month. Complete symptom remission after cessation of OC use. F12 gene analysis revealed heterozygosity for the Thr309Lys mutation.
Case 2. A 17 year old female complained about frequently recurring severe abdominal pain attacks and recurrent angioedema of extremities, lips and complete face and larynx. Symptom frequency was high, up to twice weekly. Onset of symptoms at age 15, rapid progression after start of OC and later with sole use of an estrogen eluting vaginal ring. Complete remission of symptoms after removal of vaginal device. F12 gene analysis revealed heterozygosity for the Thr309Arg mutation.
Case 3. A 16 year old female showed recurrent angioedema of the face. Onset of symptoms concomitant to start of OC use. F12 gene analysis showed a heterozygous missense mutation (Thr309Lys).
Conclusion: The missense mutations at position 309 of the mature factor XII protein can lead to recurrent angioedema, especially in female patients and particularly under additional estrogen influence. Factor XII mutations should be considered in the differential diagnosis of recurrent angioedema.
Disclosure of interest: none declared.
To cite this abstract use the following format:
Journal of Thrombosis and Haemostasis 2007; Volume 5, Supplement 2: abstract number
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