ACUTE INTERMITTENT PORPHYRIA: A REPORT OF FIVE CASES AND A REVIEW OF THE LITERATURE

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Abstract
This is a study of the clinical features in 69 patients with acute intermittent porphyria, including 64 collected from the literature since 1941. The symptoms fell into a triad of gastrointestinal (in 95%), neuropathy (in 80%), and psychiatric (in 75%). The laboratory findings were mainly non-specific and frequently included leucocytosis and a moderately elevated nonprotein N level in the blood. Occasionally the X-ray findings mimicked those found in intestinal obstruction or gastrointestional atony. The Watson-Schwartz test for urinary porphobilinogen has greatly facilitated the diagnosis of acute intermittent porphyria, and the presence of uroporphyrin in the urine substantiates the diagnosis. The series included 42 women and 27 men, of whom 70% were between 21 and 40 years of age at the time of diagnosis. There were only 3 Negro patients in the series. The pathogenesis of this disease involving an abnormality of pyrrole metabolism is unknown, and the pathologic findings are restricted to non-specific nervous system changes. There is no specific therapy for acute intermittent porphyria, but ACTH or cortisone may be useful in the acutely ill patient. The patients should not be given barbiturates. The mortality in this series was 58%, with the highest mortality in those patients with cranial nerve involvement.

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