Nutroterapia na porfiria aguda intermitente: Da UTI ao ambulatório

Abstract

Acute intermittent porphyria is a rare genetic disease, autosomal dominant, with variable penetrance, which causes error in the heme metabolism pathway of the liver, with accumulation of intermediate metabolites that are toxic to the body. It is manifested by crisis with multisystem symptoms, and diagnosis is often difficult. The main findings are severe abdominal pain, polyneuropathy, autonomic dysfunction, and neuropsychiatric disorders. It ranges from mild to very severe with malignant arrhythmia and bulbar paralysis with respiratory failure requiring mechanical ventilation and admission to the intensive care unit. The diagnosis is confirmed biochemistry and genetics. Treatment of the crisis is done away from precipitating factors and specifically with a diet rich in carbohydrates and hematin, with positive effect on the heme biosynthetic pathway. Within the multidisciplinary team, it must be highlighted the role of the nutrition specialist doctor, who evaluates and guides the nutrition therapy, both in crises and in the clinical monitoring of these patients.