Acute porphyria: A neuropsychiatric and biochemical study

Abstract

Various authors have alleged the importance of emotional disturbance in precipitating acute attacks of porphyria and have also claimed that the porphyric patient has a background of neurotic instability. The evidence in the literature for these claims is found to be inconclusive. Psychiatric, psychological and EEG investigations, together with daily measurement of the urinary excretion of porphobilinogen (PBG) and δ-aminolaevulinic acid (ALA) have been carried out in thirteen patients with acute porphyria. No evidence was found for a psychogenic factor in the etiology of the disorder, nor for a neurotic predisposition in the family history or previous personality. The excretion of PBG and ALA fluctuated considerably but there was no correlation between peaks of excretion and acute symptoms; some patients were symptomless despite excreting considerable quantities of these compounds whilst others had symptoms without an increase in excretion rate. The presence of porphobilinogen in the urine demonstrates that the patient has the metabolic defect of porphyria but neither dark-coloured urine nor the finding of high levels of porphobilinogen and δ-aminolaevulinic acid prove that an acute attack of porphyria is occuring. Psychiatric symptoms commonly occur during an acute attack of porphyria. However, symptoms suggestive of porphyria may sometimes be largely psychogenic. and unrelated to the underlying metabolic defect. In such cases the diagnosis is not assisted by the EEG findings or the level of porphobilinogen in the urine and must be based on a clinical and psychiatric assessment.