Tratamento Fisioterapêutico durante a hospitalização em paciente com Porfiria Aguda Intermitente grave: um relato de caso.

Abstract

Introduction: Porphyrias are rare, usually hereditary, metabolic diseases caused by alterations in heme biosynthesis, leading to the accumulation of porphyrins and their precursors. Acute Intermittent Porphyria (AIP) is the most common form, manifesting as episodic neurovisceral crises, mainly in young women, with nonspecific symptoms that hinder early diagnosis and can progress to serious complications such as progressive neuropathy. Objective: To report the case of a patient diagnosed with AIP and hospitalized at the HU/UFJF, emphasizing the physiotherapeutic approach during hospitalization.  Case report: A 20-year-old female patient presented with severe abdominal pain, constipation, sialorrhea, and tachycardia. Within a few days, she developed progressive paresis, dysphagia, and acute respiratory failure. Guillain-Barré syndrome was initially suspected. She was later diagnosed with AIP through biochemical and genetic testing. The patient required prolonged mechanical ventilation, tracheostomy, and intensive care, receiving respiratory and motor physiotherapy, as well as multidisciplinary support. During her four-month hospitalization, she showed gradual improvement, with weaning from mechanical ventilation, decannulation, and partial recovery of muscle strength, highlighting the importance of integrated management in functional prognosis. 

Conclusion: This case demonstrates the complexity of the rehabilitation process in severe AIP and reinforces the importance of a multidisciplinary approach, highlighting the important role of physiotherapy in ventilator weaning, decannulation, and the patient's overall rehabilitation.