La porfiria aguda intermitente, un problema diagnóstico / Acute intermittent porphyria: A diagnostic dilemma

La porfiria aguda intermitente (PAI) es una enfermedad poco frecuente que se caracteriza por dolor abdominal acompañado en muchas ocasiones de síntomas inespecíficos. Describimos el caso de una mujer de 24 años que presentó una secreción inadecuada de hormona antidiurética (SIADH) junto con neuropatía motora y sensitiva debido a una crisis de PAI. La paciente acudió al servicio de urgencias por dolor abdominal presentando una exploración física y análisis normales. Posteriormente presentó un episodio de convulsiones generalizadas como consecuencia de hiponatremia por SIHAD, lo que llevó junto a la observación de orinas rojas al diagnóstico de PAI. En el intervalo que se tardó en disponer de hematina para el tratamiento la paciente presentó además hipertensión, taquicardia y neuropatía periférica de predominio motor con debilidad muscular. Revisamos brevemente las características clínicas y de laboratorio de esta enfermedad, resaltando la importancia de tener en consideración la PAI en el diagnóstico diferencial de patología gastrointestinal, hiponatremia o neuropatía para un reconocimiento rápido de esta entidad, iniciar el tratamiento especifico con hemina de forma precoz y evitar complicaciones irreversibles (AU)

AbstractAcute intermittent porphyria (AIP) is a rare condition characterized by abdominal pain and a wide range of nonspecific symptoms. We report the case of a 24-year-old woman with syndrome of inappropriate secretion of antidiuretic hormone (SIADH) and motor and sensory neurological deficits due to an attack of acute porphyria. The patient presented to the emergency department with abdominal pain. The results of physical examination and laboratory investigations were normal. Two days after admission, the patient developed seizures as a result of hyponatremia due to SIADH, which, together with the observation of red urine, led to the diagnosis of AIP. Before hematin was available, the patient developed autonomic instability and peripheral neuropathy with muscular weakness.AbstractWe briefly review the clinical and laboratory features of this syndrome and emphasize the importance of its inclusion in the differential diagnosis of gastrointestinal diseases, hyponatremia and neuropathy. Prompt recognition of this entity and early specific treatment with haem arginate are important to prevent irreversible complications(AU)

[Acute intermittent porphyria: a diagnostic dilemma]. / La porfiria aguda intermitente, un problema diagnóstico.

Acute intermittent porphyria (AIP) is a rare condition characterized by abdominal pain and a wide range of nonspecific symptoms. We report the case of a 24-year-old woman with syndrome of inappropriate secretion of antidiuretic hormone (SIADH) and motor and sensory neurological deficits due to an attack of acute porphyria. The patient presented to the emergency department with abdominal pain. The results of physical examination and laboratory investigations were normal. Two days after admission, the patient developed seizures as a result of hyponatremia due to SIADH, which, together with the observation of red urine, led to the diagnosis of AIP. Before hematin was available, the patient developed autonomic instability and peripheral neuropathy with muscular weakness. We briefly review the clinical and laboratory features of this syndrome and emphasize the importance of its inclusion in the differential diagnosis of gastrointestinal diseases, hyponatremia and neuropathy. Prompt recognition of this entity and early specific treatment with haem arginate are important to prevent irreversible complications.