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Since 1963 Hereditary AngioEdema (HAE) is considered an autosomal dominant disorder (Donaldson and Evans), characterized by a quantitative and/or qualitative deficit of C1 esterase inhibitor (C1-INH), which affects approximately 1:50.000 individuals in the general population. From this period the link between HAE and psychiatry was interrupted, however genetic issues could not comprehensively explain the clinical evolution of the disease. Clinical studies show an evident gap between genotype and phenotype of HAE. For this still controversial question, we have designed this cross-sectional study in order to establish the relationship between HAE clinical manifestations and neurobiological/psychopatological parameters.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| HereditaryAngioEdema | Patients from the Eastern Sicily HAE register |
|
| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| Clinical and psychopathological assessment of HAE patients | Other |
|
| Measure | Description | Time Frame |
|---|---|---|
| Multivariate linear regression analysis of HAE clinical status and psychometric parameters | First assessment |
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Inclusion Criteria:
Diagnosis of HAE
Exclusion Criteria:
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This population-based cross-sectional study will include all Hereditary AngioEdema (HAE) patients from the Eastern Sicily HAE register.
| Name | Role | Phone | Extension | |
|---|---|---|---|---|
| Giuseppe Minutolo, MD, PhD | Contact | +39 0953782791 | giuseppeminutolo@hotmail.com | |
| Francesca Magnano S. Lio, MD | Contact | +39 0953782470 | francesca.magnanosanlio@gmail.com |
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| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| UOPI of psychiatry - Department of clinical and molecular biomedicine - AOU Policlinico-Vittorio Emanuele | Catania | Catania | 95024 | Italy |
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| ID | Term |
|---|---|
| D054179 | Angioedemas, Hereditary |
| D001008 | Anxiety Disorders |
| D003863 | Depression |
| ID | Term |
|---|---|
| D000799 | Angioedema |
| D014652 | Vascular Diseases |
| D002318 | Cardiovascular Diseases |
| D000081208 | Hereditary Complement Deficiency Diseases |
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| D000081207 | Primary Immunodeficiency Diseases |
| D030342 | Genetic Diseases, Inborn |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| D014581 | Urticaria |
| D017445 | Skin Diseases, Vascular |
| D012871 | Skin Diseases |
| D017437 | Skin and Connective Tissue Diseases |
| D006969 | Hypersensitivity, Immediate |
| D006967 | Hypersensitivity |
| D007154 | Immune System Diseases |
| D007153 | Immunologic Deficiency Syndromes |
| D001523 | Mental Disorders |
| D001526 | Behavioral Symptoms |
| D001519 | Behavior |