Prevalence of Acute Hepatic Porphyria

Study Overview
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Brief Summary
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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.

Detailed Description
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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.

Official Title
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Prevalence of Acute Hepatic Porphyria in Population With Suggestive Clinical Picture

Conditions
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Acute Hepatic Porphyria

Intervention / Treatment
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* Other: Dosage of Delta-aminolevulinic acid and Porphobilinogen


Participation Criteria
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Eligibility Criteria
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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: Peripheral neurological symptoms: decreased driving force and pain in the limbs (roots of the thighs), etc. ; Central neurological symptoms: psychiatric (depression, anxiety, insomnia), disturbances of consciousness, etc. ; Autonomous neurological symptoms: tachycardia, nausea, vomiting, constipation, etc. 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: Patient with a diagnosis of acute hepatic porphyria for more than 6 months; Patient unfit to participate in the study, due to cognitive or linguistic difficulties; Protected patient (under legal protection, or deprived of liberty by judicial or administrative decision).

Ages Eligible for Study
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Minimum Age: 18 Years
Maximum Age: 60 Years

Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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No

Study Plan
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How is the study designed?
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Arms and Interventions

| Intervention/Treatment |
| --- |
|Other: Dosage of Delta-aminolevulinic acid and Porphobilinogen|Results of dosages of Delta-aminolevulinic acid and Porphobilinogen which are performed in accordance with the current practice will be recorded|

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | 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: Delta-aminolevulinic acid ≥ 3 µmol / mol Cr And or Porphobilinogen ≥ 1 µmol / mol Cr Otherwise, the patient will be considered to be acute hepatic porphyria free (acute hepatic porphyria -). | 1 day |