Article

Acute Porphyria

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Abstract

PORPHYRIA is a metabolic disease characterized by excessive excretion of porphyrins in the urine and feces. Clinically it appears to occur in two forms, congenital and acute. Congenital porphyria is rare and is distinguished by red discoloration of the teeth and bones and by photosensitivity of the skin. The acute form is much more common. It is actually a chronic disease characterized by remissions and exacerbations, with symptoms involving principally the nervous and gastrointestinal systems. Both forms are thought to be hereditary, the congenital being transmitted as mendelian recessive and the acute as mendelian dominant.1 The following patient represents a case of acute porphyria.

Case Report

A 26-year-old housewife entered the Clinic complaining of “bad nerves.” She had felt well until 4 weeks before admission when she developed “grippe” with chilly sensations, myalgias, transient diarrhea, and generalized crampy abdominal pain. The chilly sensations and diarrhea disappeared after 1 or 2 days. No fever was present. The patient continued to experience intermittent crampy abdominal pain, became constipated and required the use of repeated laxatives and enemas. She lost her appetite and vomited occasionally. There was a loss of 31 pounds during this period. In addition she had two attacks characterized by weeping, hyperventilation, carpal spasm, and inability to speak clearly; each lasted about 10 minutes. No loss of consciousness or sphincter control accompanied these episodes. As a result the patient became depressed and apprehensive. She was observed in a local hospital for 2 weeks, and was given barbiturates repeatedly for sedation.


 

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