6533b7d5fe1ef96bd1264902
RESEARCH PRODUCT
Hereditary Angioedema with Normal C1 Inhibitor
Konrad Borksubject
Malemedicine.medical_specialtyImmunologyCoagulation Factor XIIC1-inhibitorDiagnosis DifferentialPregnancyRisk FactorsInternal medicinemedicineHumansImmunology and AllergyHereditary Angioedema Type IIIAngioedemaFactor XIIbiologyAngioedemabusiness.industryAngioedemas Hereditarymedicine.diseaseEndocrinologyTransgender hormone therapyFactor XIIMutationHereditary angioedemabiology.proteinFemaleDifferential diagnosismedicine.symptombusinessComplement C1 Inhibitor Proteindescription
Until recently it was assumed that hereditary angioedema was a disease that results exclusively from a genetic deficiency of the C1 inhibitor. In 2000, families with hereditary angioedema, normal C1 inhibitor activity, and protein in plasma were described. Since then, numerous patients and families with that condition have been reported. Most of the patients were women. In many of the affected women, oral contraceptives, hormone replacement therapy containing estrogens, and pregnancies triggered the clinical symptoms. In some families mutations in the coagulation factor XII (Hageman factor) gene were detected.
| year | journal | country | edition | language |
|---|---|---|---|---|
| 2013-11-02 | Immunology and Allergy Clinics of North America |