Prevalence of Acute Hepatic Porphyria

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.

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).