Difficulties of diagnosing acute intermittent porphyria in clinical practice

Abstract

Acute intermittent porphyria is an inherited metabolic disease with autosomal dominant inheritance pattern. The pathogenesis of the disease includes disturbed function of vegetative regulation. Attacks of acute intermittent porphyria are rare, sometimes are fatal, but in practice they often remain undiagnosed. Significant difficulties are attributed to unspecific clinical manifistations of acute intermittent porphyria. The patients initially visit surgeons with a clinical presentation of acute abdomen. As a result porphyrinogenic diagnostic and remedial procedures are administered including anesthetics and laparoscopy with anesthesia, which worsen the attack and prognosis. Porphyria being an orphan disease and polymorphism of clinical presentation, absence of medications for its treatment in health care facilities in Russian Federation cause challenges for physicians. The article deals with clinical observation of two patients with a diagnosis of acute intermittent porphyria first made in the neurology department. A 53-year old female was brought in to the neurology department by an ambulance in obtundation after a series of generalized tonoclonic spasms with hyperthermia. A 21-year old female was admitted to the surgical department due to intensive epigastric pain, nausea, repeated episodes of vomiting, an episode of diarrhea and significant general fatigue causing impossibility to move. Presented clinical cases reflect a general situation when for a long period of time the patients were wrongfully admitted to different departments, and cover a problem of late and untimely diagnosis of the disease.