RESUMEN
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.
Asunto(s)
Terapia Ocupacional , Modalidades de Fisioterapia , Porfiria Intermitente Aguda/rehabilitación , Terapia Respiratoria , Adulto , Evaluación de la Discapacidad , Femenino , Estudios de Seguimiento , Hemina/uso terapéutico , Humanos , Fuerza Muscular , Reinserción al Trabajo , Desconexión del VentiladorRESUMEN
La porfiria aguda intermitente es una enfermedad poco frecuente en España producida por una hipo-actividad generalizada de la uroporfirinógeno I-sintetasa (PBG-desaminasa) con una reducción del 50 % de la concentración de la proteína enzimática. Las crisis suelen iniciarse con un cuadro de dolor abdominal junto con náuseas, vómitos y estreñimiento. En un 75 % de los pacientes aparecen manifestaciones neurológicas en forma de neuropatía periférica. La parálisis puede llegar a afectar a la musculatura respiratoria y obligar a la ventilación mecánica asistida. La recuperación suele ser lenta pero completa. Presentamos un caso clínico de porfiria aguda intermitente que inició la sintomatología con un cuadro de dolor abdominal seguido de crisis comiciales y polineuropatía axonal sensitivo motora periférica con afectación de la musculatura respiratoria que requirió intubación orotraqueal; interesante por su infrecuente prevalencia y por sus múltiples formas de presentación junto a su amplio abanico de posibles diagnósticos diferenciales. Se describe el tratamiento rehabilitador pautado y su evolución posterior. Se revisan los principales aspectos sobre el tema expuestos en la literatura médica
Acute intermittent porphyria is a rare diseasein Spain produced by generalized hypoactivity of uroporphyrinogenI-synthetase (PBG-desaminase) with a 50 % reduction of the enzymatic protein concentration. The episodes generally initiate with a picture of abdominal pain together with nausea, vomiting and constipation. In 75 % of the patients, there are neurological manifestations in form of peripheral neuropathy. Paralysis may affect respiratory musculature and require assisted mechanical ventilation. Recoveryis generally slow but complete. We present a clinical case of Intermittent Acute Porphyria whose symptoms initiated with a picture of abdominal pain followed by seizures and peripheral axonal sensory-motor polyneuropathy with involvement of the respiratory musculaturethat required orotracheal intubation. It is interesting due to its uncommon prevalence and multiple presentation forms together with its wide range of possible differential diagnoses. We describe the rehabilitation treatment prescribed and its posterior course. We review the main aspects on the subject presented in the literature