WHEN SIMPLES WORKS: THE IMPACT OF QUALITATIVE TESTING ON THE DIAGNOSIS OF ACUTE INTERMITTENT PORPHYRIA IN THE STATE OF PIAUÍ

Abstract

Rare diseases, affecting an estimated 13 million Brazilians, face significant challenges in diagnosis and treatment due to a lack of infrastructure and specialized knowledge. This study describes the implementation and standardization of the qualitative porphobilinogen test (PBG) at the Laboratory of Immunogenetics and Molecular Biology of the Federal University of Piauí (LIB-UFPI), aiming at the diagnosis of Acute Intermittent Porphyria (IAP). The standardization of the Ehrlich test allowed the provision of an affordable diagnostic tool in a region with limited resources. To strengthen the health network, actions were carried out to organize and disseminate information about IAP among local health professionals. The dissemination of information was accompanied by the implementation of an efficient logistical flow, including collection, transportation, and analysis of samples in a timely manner, which made it possible to carry out early interventions. In five months, the test was responsible for the diagnosis of six patients with IAP, allowing the reduction of the patients' therapeutic itinerary. In addition, the negative results in other patients with similar symptoms directed the investigation to alternative etiologies, contributing to more accurate diagnoses. The impacts of this initiative include reducing the diagnostic time, expanding access to appropriate treatment, and strengthening the National Policy for Comprehensive Care for People with Rare Diseases in the state of Piauí. This work demonstrates how the combination of simple laboratory tools, professional training, and networking can transform the natural history of rare diseases, improving patients' quality of life and promoting significant advances in the local health system.