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RESUMEN Introducción: Las porfirias hepáticas agudas son un trastorno genético causado por actividad irregular en la síntesis del grupo hemo. Aunque son de baja incidencia, su presencia puede aumentar el riesgo de muerte y afectar la calidad de vida de los pacientes. Se realizó una búsqueda bibliográfica con un intervalo desde el año 2015 al 2020, sobre porfirias hepáticas agudas. Objetivos: Actualizar sobre las alternativas diagnósticas y terapéuticas para las porfirias hepáticas agudas en adultos. Desarrollo: La exposición a ciertos factores precipitantes como fármacos, infecciones y estrés, conllevan a una crisis aguda de porfiria, que desencadenan síntomas neuroviscerales y requiere hospitalización. Existen teorías aisladas que explican el mecanismo de daño durante el ataque agudo, como la hiperactividad autónoma, inflamación, disfunción endotelial, mitocondrial, lesión renal y neurotoxicidad. Sin embargo, el reconocimiento clínico de estos mecanismos sin un diagnóstico conocido de porfiria es un reto para el personal médico, debido a la presencia de síntomas y signos inespecíficos, lo que retrasa el diagnóstico. Debido a la dependencia de la hemina de por vida, se han optado por nuevas alternativas terapéuticas como la supresión genética y el trasplante hepático. El pronóstico es favorable cuando se realiza el diagnóstico a tiempo. Conclusiones: Las alternativas diagnósticas y terapéuticas para las porfirias hepáticas agudas en adultos han evolucionado hacia el trasplante ortotópico hepático y la terapia génica, la cual se ha convertido en un enfoque terapéutico prometedor y validado para el tratamiento de los pacientes con porfirias hepáticas.
ABSTRACT Introduction: Acute hepatic porphyria is a genetic disorder caused by irregular activity in the synthesis of the heme group. Although they are of low incidence, their presence can increase the risk of death and affect the quality of life of patients. A bibliographic search was carried out with a time interval from 2015 to 2020 on acute hepatic porphyria. Objectives: To update on the diagnostic and therapeutic alternatives for acute hepatic porphyria in adults. Development: Exposure to certain precipitating factors such as drugs, infections, and stress leads to an acute porphyria crisis, which triggers neurovisceral symptoms and requires hospitalization. There are isolated theories that explain the mechanism of damage during the acute attack, such as autonomic hyperactivity, inflammation, endothelial and mitochondrial dysfunction, kidney damage, and neurotoxicity. However, clinical recognition of these mechanisms without a known diagnosis of porphyria is challenging for medical personnel, due to the presence of nonspecific symptoms and signs, delaying diagnosis. Due to the dependence on hemin for life, new therapeutic alternatives such as gene suppression and liver transplantation have been chosen. The prognosis is favorable when the diagnosis is made in time. Conclusion: Diagnostic and therapeutic alternatives for acute hepatic porphyria in adults have evolved towards orthopedic liver transplantation and gene therapy, which has become a promising and validated therapeutic approach for the treatment of patients with hepatic porphyria.
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Resumen Introducción. La porfiria es un conjunto de enfermedades metabólicas que tienen como base fisiopatológica la acumulación de precursores tóxicos. Su similitud clínica con enfermedades como el síndrome de Guillain-Barre puede retrasar el diagnostico, aumentando la posibilidad de complicaciones. Presentación del caso. Paciente femenino quien presentó síntomas inespecíficos de porfiria y síndrome de Guillain-Barre. La mujer fue evaluada de manera integral y recibió tratamiento para ambas patologías, respondiendo de manera inusual. Conclusión. La respuesta farmacológica atípica encontrada y la relación causa-efecto entre ambas entidades se justifica a la luz de sus procesos fisiopatológicos y la respuesta inmune desencadenada por los mismos.
Abstract Introduction: Porphyria is a group of metabolic diseases whose physiopathological basis is the accumulation of toxic precursors. Its clinical similarity to diseases such as Guillain-Barré Syndrome may delay diagnosis, increasing the possibility of complications. Case presentation: Female patient who presented nonspecific symptoms of porphyria and Guillain-Barré syndrome. The woman was comprehensively assessed and treated for both conditions, and had an unusual response. Conclusion: The atypical pharmacological response found and the cause-effect relationship between both entities is explained by their physiopathological processes and the immune response triggered by them.
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BACKGROUND AND OBJECTIVES: Acute intermittent porphyria (AIP) is a rare disease that results from a deficiency of porphobilinogen deaminase, the third enzyme of the heme biosynthetic pathway. AIP carriers are at risk of presenting acute neurovisceral attacks associated with overproduction of heme-precursors in the liver. PATIENTS AND METHOD: We report the characteristics of all AIP patients attended in the Hospital Clinic of Barcelona during the years 1993-2013 and their long-term follow-up. RESULTS: Thirty-five AIP patients (33 women, 2 men) experienced acute attacks. Treatment with hemin resolved the acute neurovisceral crisis in all cases. Nine patients presented peripheral neuropathy and persistent sequelae. Long-term follow-up allowed classifying the patients into groups: A, patients with acute symptoms during 1-2 years and subsequent long-lasting clinical remission (n=24) or a few sporadic crises (n=3), and B, patients with recurrent attacks requiring chronic administration of hemin (n=8). In a majority of the patients of group A, the urinary excretion of heme-precursors decreased gradually over time. However, the chronic hemin regime did not induce a decline of urinary heme-precursors in the patients of group B. Additionally, we identified 44 asymptomatic AIP carriers, most (70.5%) with normal values of heme-precursors in urine. CONCLUSIONS: A majority of the AIP patients of our series achieved a long-lasting clinical remission. A minority (23%) presented recurrent attacks that required chronic hemin infusions without feasible interruption and without long-term biochemical remission. The type of mutation within the porphobilinogen deaminase gene and also life-style related factors may determine remission time-course.
