title: A Comprehensive Rehabilitation Program and Follow-up Assessment for Acute Intermittent Porphyria.
abstract: Acute intermittent porphyria (AIP) is an infrequent metabolic disease that can cause severe disability or death without timely treatment. A porphyric attack occurs when genetic factors combine with trigger factors, and diagnosis may be delayed owing to nonspecific symptoms. Recovery from AIP can be nearly or fully complete with proper treatment, which includes intravenous hematin administration, the control of trigger factors, and a comprehensive rehabilitation program. The aim of this case report was to describe the clinical evolution of a 43-year-old woman with AIP and a polyneuropathy. The patient was treated through a comprehensive rehabilitation program, with outcomes evaluated by the Functional Independence Measure and the Berg scales during rehabilitation and postdischarge follow-up. After completing the comprehensive rehabilitation program, the patient achieved a satisfactory level of functional independence, allowing for social and work reintegration. We conclude that an early and multidisciplinary approach is essential for regaining optimal functionality after AIP.
authors: From the Rehabilitation Unit, Clínica Los Coihues, Santiago, Chile (ABM, RT-C, COG); Department of Physical Therapy, Faculty of Medicine, University of Chile, Santiago, Chile (RT-C); and Center of Integrated Studies of Neurorehabilitation, Clínica Los Coihues, Santiago, Chile (RT-C).
authors: Anne-Marie
authors: AM
authors: Bonnefoy Mirralles
authors: Rodrigo
authors: R
authors: Torres-Castro
authors: Constanza
authors: C
authors: Ovalle Guzman
mesh_terms: D000328:Adult; D004185:Disability Evaluation; D005260:Female; D005500:Follow-Up Studies; D006427:Hemin / Q000627:therapeutic use; D006801:Humans; D053580:Muscle Strength; D009788:Occupational Therapy; D026741:Physical Therapy Modalities; D017118:Porphyria, Acute Intermittent / Q000534:rehabilitation*; D012138:Respiratory Therapy; D062707:Return to Work; D015300:Ventilator Weaning
chemical_list: D006427:Hemin