Angio Edema
Conditions
Brief summary
Angioedema is a common condition, with multiple etiologies. Type 3 angioedema is caused by an increase in kininogenase activity responsible for an increased production of bradykinin. In some cases, it may be associated with clotting factor 12 mutations. However, other genetic abnormalities remain to be identified. Clinically, this angioedema type 3 is similar to types 1 and 2. The patient's vital prognosis is good if the diagnosis is made and if they have access to the appropriate treatment. Otherwise a significant morbidity is associated with it, hence the importance of being able to define a diagnostic marker. Videocapillaroscopy might be able to highlight abnormalities in the microcirculation of patients with a clinical display of angioedema. The purpose of this study is to highlight markers allowing to make an early diagnosis of angioedema. Functional analysis of factor XII in patients with symptoms of angioedema may be an interesting marker for diagnosis. Microcirculation abnormalities will also be evaluated by videocapillaroscopy, which may be another indicator of the disease.
Interventions
DIAGNOSTIC_TESTFactor XII dosage
Factor XII (FXII, Hageman factor) will be measured in plasma. It is converted to FXIIa by an activator. The FXIIa protease cleaves a chromogenic substrate and releases p-nitroaniline (pNA), which can be measured photometrically.
GENETICp.Thr328Lys mutation detection
Sequencing of exon 9 of franking introns of FXII, for identification of the p.Thr328Lys mutation.
DIAGNOSTIC_TESTVideocapillaroscopy
It is an optical method to visualize the most superficial part of the cutaneous microcirculatory network. It provides morphological information.
Sponsors
Brugmann University Hospital
Study design
Allocation
NON_RANDOMIZED
Intervention model
PARALLEL
Primary purpose
DIAGNOSTIC
Masking
NONE
Eligibility
Sex/Gender
ALL
Age
18 Years to No maximum
Healthy volunteers
Yes
Inclusion criteria
* Population of patients treated within the CHU Brugmann Hospital for an angioedema (and control group of healthy individuals)
Exclusion criteria
* None
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Plasma concentration of Factor XII | 24 hours | Plasma concentration of Factor XII |
| Presence of p.Thr328Lys mutation | 24 hours | Genetic analysis : sequencing of the Factor VII gene. Presence/Absence of the p.Thr328Lys mutation (single nucleotide variation inducing a missense variant). |
| Videocapillaroscopy result | 24 hours | It is an optical method to visualize the most superficial part of the cutaneous microcirculatory network. It provides morphological information.The result will be classified as 'normal' or 'abnormal' by the videocapillaroscopy specialist. |
Countries
Belgium
Outcome results
None listed