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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.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| Type III angioedema | Experimental | White angioedema. Positive for Factor XII mutation. No C1-inhibitors anomaly. Not caused by IEC. |
|
| Idiopathic angioedema | Experimental | White angioedema. Negative for Factor XII mutation. No C1-inhibitors anomaly. Not caused by IEC. |
|
| Type I or II angioedema | Experimental | White angioedema. Negative for Factor XII mutation. C1-inhibitors anomaly. Not caused by IEC. |
|
| Post IEC (conversion enzyme inhibitors) angioedema | Experimental | White angioedema. Negative for Factor XII mutation. No C1-inhibitors anomaly. Caused by IEC. |
|
| Histaminic angioedema | Experimental |
| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| Factor XII dosage | Diagnostic Test | 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. |
| Measure | Description | Time Frame |
|---|---|---|
| Plasma concentration of Factor XII | Plasma concentration of Factor XII | 24 hours |
| Presence of p.Thr328Lys mutation | Genetic analysis : sequencing of the Factor VII gene. Presence/Absence of the p.Thr328Lys mutation (single nucleotide variation inducing a missense variant). | 24 hours |
| Videocapillaroscopy result | 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. | 24 hours |
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Inclusion Criteria:
Exclusion Criteria:
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| Name | Affiliation | Role |
|---|---|---|
| Oumnia Mouna, MD | CHU Brugmann | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| CHU Brugmann | Brussels | 1020 | Belgium |
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| ID | Term |
|---|---|
| D000799 | Angioedema |
| ID | Term |
|---|---|
| D014652 | Vascular Diseases |
| D002318 | Cardiovascular Diseases |
| D014581 | Urticaria |
| D017445 | Skin Diseases, Vascular |
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| ID | Term |
|---|---|
| D020678 | Microscopic Angioscopy |
| ID | Term |
|---|---|
| D000069416 | Intravital Microscopy |
| D008853 | Microscopy |
| D003952 | Diagnostic Imaging |
| D019937 | Diagnostic Techniques and Procedures |
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Red angioedema.Negative for Factor XII mutation. No C1-inhibitors anomaly. Not caused by IEC. |
|
| Control | Other | Healthy individuals, no angioedema. |
|
| p.Thr328Lys mutation detection | Genetic | Sequencing of exon 9 of franking introns of FXII, for identification of the p.Thr328Lys mutation. |
|
| Videocapillaroscopy | Diagnostic Test | It is an optical method to visualize the most superficial part of the cutaneous microcirculatory network. It provides morphological information. |
|
| D012871 |
| Skin Diseases |
| D017437 | Skin and Connective Tissue Diseases |
| D006969 | Hypersensitivity, Immediate |
| D006967 | Hypersensitivity |
| D007154 | Immune System Diseases |
| D003933 | Diagnosis |
| D003935 | Diagnostic Techniques, Cardiovascular |
| D008919 | Investigative Techniques |