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To determine the proportion of patients suffering from acute hepatic porphyria (AHP) from different hospital departments and referred to an internist referent for a suggestive clinical picture with a first negative etiological assessment.
In this context, this study aims to assess the prevalence of PHA in a population of patients with a suggestive clinical picture. A better knowledge of the pathology will make it possible to better guide patients and prevent them from diagnostic wandering fraught with physical and psychological consequences.
This is an observational, ambispective, transversal, multicenter study carried out in France. The goal is to recruit a cohort that will reflect current practice. 500 patients will be recruted.
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| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| Dosage of Delta-aminolevulinic acid and Porphobilinogen | Other | Results of dosages of Delta-aminolevulinic acid and Porphobilinogen which are performed in accordance with the current practice will be recorded |
| Measure | Description | Time Frame |
|---|---|---|
| Binary criterion corresponding to the diagnosis of acute hepatic porphyria (acute hepatic porphyria + / acute hepatic porphyria -) via physiological parameter. | The diagnosis of acute hepatic porphyria is based on urine testing of the neurotoxic precursors of haem: Delta-aminolevulinic acid and Porphobilinogen. A patient will be considered to have acute hepatic porphyria (acute hepatic porphyria +) if:
| 1 day |
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Inclusion Criteria:
Man or woman aged 18 to 60;
Presenting severe abdominal pain, afebrile and diffuse over several days, evolving for less than 5 years;
With at least one of the following symptoms:
With a first negative etiological assessment requested by an emergency physician, gastroenterologist, gynecologist, neurologist, internist or another specialty, or with a diagnosis of acute hepatic porphyria less than 6 months;
Patient able to understand the information related to the study and having indicated his non-objection to the collection of data concerning him;
Exclusion Criteria:
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The target population is made up of patients presenting signs suggestive of acute hepatic porphyria or recently diagnosed, from consultations with gastroenterologists, emergency physicians, neurologists, gynecologists, internists or other specialties, referred to an acute hepatic porphyria referent internist participating in the study, within the framework of of the etiological exploration of their clinical picture.
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| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Hôpital de la Pitié Salpêtrière | Paris | France |
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| ID | Term |
|---|---|
| D046349 | Coproporphyria, Hereditary |
| ID | Term |
|---|---|
| D017094 | Porphyrias, Hepatic |
| D008107 | Liver Diseases |
| D004066 | Digestive System Diseases |
| D012873 | Skin Diseases, Genetic |
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| ID | Term |
|---|---|
| D011162 | Porphobilinogen |
| ID | Term |
|---|---|
| D011758 | Pyrroles |
| D001393 | Azoles |
| D006573 | Heterocyclic Compounds, 1-Ring |
| D006571 | Heterocyclic Compounds |
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| D030342 |
| Genetic Diseases, Inborn |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| D012871 | Skin Diseases |
| D017437 | Skin and Connective Tissue Diseases |
| D011164 | Porphyrias |
| D008659 | Metabolic Diseases |
| D009750 | Nutritional and Metabolic Diseases |