Prevalence of Acute Hepatic Porphyria

Association pour la Recherche en Medecine Interne150 enrolled

Overview

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.

Study Type

OBSERVATIONAL

Enrollment

150

Conditions

Acute Hepatic Porphyria

Interventions

Dosage of Delta-aminolevulinic acid and PorphobilinogenOTHER

Results of dosages of Delta-aminolevulinic acid and Porphobilinogen which are performed in accordance with the current practice will be recorded

Eligibility

Sex: ALLMin age: 18 YearsMax age: 60 Years

Medical Language ↔ Plain English

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).

Locations (1)

Hôpital de la Pitié Salpêtrière

Paris, France

Outcomes

Primary Outcomes

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 -).

Time frame: 1 day

Data from ClinicalTrials.gov

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