Resumo
JUSTIFICATIVA E OBJETIVOS: As porfirias são um grupo de distúrbios herdados ou adquiridos que envolvem enzimas participantes do processo de síntese do heme. As manifestações agudas afetam o sistema nervoso, resultando em dor abdominal, vômitos, neuropatia aguda, convulsões e distúrbios mentais. A fisiopatogenia resulta do efeito tóxico dos precursores de porfirina, podendo ser desencadeada por fármacos usados de rotina na prática médica, restrição intensa de carboidratos e estresse metabólico. O objetivo deste trabalho foi apresentar um caso de porfiria de diagnóstico tardio, evoluindo para dor crônica. RELATO DO CASO: Paciente do sexo feminino, 27 anos, internada há 5 meses com dor abdominal intensa sem diagnóstico clínico. Foi indicada laparotomia exploradora, a qual não evidenciou causa para o quadro. A paciente, exposta a trauma cirúrgico e medicamentos que desencadeiam crise de porfiria, como cetoprofeno, metoclopramina e antibióticos, evoluiu com hiponatremia importante, elevação de enzimas hepáticas, convulsão e perda dos movimentos, sendo internada em Unidade de Terapia Intensiva. Após diagnóstico de porfiria, manteve dor em membros inferiores, sendo encaminhada para tratamento no Serviço de Dor da Santa Casa de Misericórdia de São Paulo. Iniciou tratamento com amitriptilina, gabapentina, opioide e analgésicos simples, mas continuou apresentando crises recorrentes da porfiria e, insegura quanto à condução do caso, abandonou o acompanhamento. CONCLUSÕES: A porfiria é um dos raros grupos de distúrbios enzimáticos que permanecem desconhecidos por grande parte dos profissionais de saúde. O paciente, ao perceber esse desconhecimento sobre a doença, tem seu nível de estresse e insegurança com o tratamento aumentado, dificultando a adesão e a continuidade ao mesmo.
Palavras-chave
DOR, DOENÇAS, Hematológica
Abstract
BACKGROUND AND OBJECTIVES: Porphyrias represent a group of inherited or acquired disorders that involve enzymes that participate in heme synthesis. Acute manifestations affect the nervous system resulting in abdominal pain, vomiting, acute neuropathy, seizures, and mental disorders. The physiopathogeny results from the toxic effects of porphyrin precursors, and it can be triggered by drugs used routinely in medical practice, severe carbohydrate restriction, and metabolic stress. The objective of this report was to present the case of a late onset porphyria evolving to chronic pain. CASE REPORT: This is a 27 years old female who was admitted 5 months prior to her clinic appointment with severe abdominal pain without diagnosis. An exploratory laparotomy was indicated, which failed to demonstrate a cause for her pain. The patient was exposed to surgical trauma and drugs that can trigger porphyria, such as ketoprophen, metoclopramide, and antibiotics, and she evolved with significant hyponatremia, increased liver enzymes, seizures, and loss of movements that led to be admitted to the Intensive Care Unit. After the diagnosis of porphyria was made, the patient remained with pain in the lower limbs, being referred to the Pain Department of Santa Casa de Misericórdia de São Paulo. Treatment with amitriptyline, gabapentin, opioid, and simple analgesics was instituted; however, the patient continued to present recurring episodes of porphyria and, feeling insecure with the conduction of the case, she stopped the treatment. CONCLUSIONS: Porphyria is one of the rare groups of enzymatic disorders that remain unknown by the great majority of health professionals. Upon recognizing this lack of knowledge about the disease, the level of stress and insecurity of the patient increases hindering adhesion to and continuity of the treatment.
Keywords
DISEASES, Hematologic, PAIN
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