Flaccid paralysis and abdominal pain, an approach to porphyrias: a literature review and case series

• Autores: Nieto González, Manuel Alejandro, Millán Pérez, Sonia Patricia, Correa Aldana, Alejandra, Galvis Chaparro, Maria Paula, Herrera Centeno, María Paula, Correa Cortés, Valentina
• Formato: artículo
• Fecha de Publicación: 2021
• Institución: Sociedad de Gastroenterología del Perú
• Repositorio: Revista de Gastroenterología del Perú
• Lenguaje: español
• OAI Identifier: oai:ojs.revistagastroperu.com:article/1258
• Enlace del recurso: http://www.revistagastroperu.com/index.php/rgp/article/view/1258
• Nivel de acceso: acceso abierto
• Materia: Porphyrias; Porphyria; acute intermittent; erythropoietic; Porphobilinogen; Aminolevulinic acid; Abdominal pain; Porfirias; Porfiria intermitente aguda; Porfiria eritropoyética; Porfobilinógeno; Ácido aminolevulínico; Dolor abdominal

Porphyrias are inherited metabolic disorders caused by enzymatic deficiencies of HEM group biosynthesis. Most common in childhood at the third and fourth decade of life. They are characterized by increased levels of porphyrins, and various cutaneous, neurological, and visceral manifestations. We describe a series of 3 cases of female patients in the third decade of life with abdominal pain and a wide range of clinical manifestations and short and long-term complications. Our review contributes to the early recognition of these diseases to establish early specific managements to impact on irreversible outcomes.