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PORPHYRIA VARIEGATA—A PROBLEM FOR THE ANESTHESIOLOGIST JACOBUS W. MOSTERT* Porphyrin metabolism may be disturbed by a striking increase in the formation and excretion of porphyrins or their precursors. The diseases which result vary in severity from the harmless to the life threatening. They may be genetically inherited or directly acquired. The various syndromes are described by the major site of the biochemical lesion— hepatic or erythropoietic—geographic distribution, clinical presentation , and the cause of the disturbance. In three forms of porphyria, the regulatory inhibiting control of aminolevulinic acid synthetase activity becomes reduced by enzyme-inducing drugs, especially the barbiturates, which may produce an exacerbation of the disease characterized by abdominal pain that is usually very severe and motor weakness that may progress to quadriplegia with respiratory muscle paralysis. There may be autonomic instability and electrolyte changes, particularly hyponatremia . Epilepsy and mental disturbances occur commonly. King George III of England was famous for shaking hands with trees, and he is now thought to have had such a porphyria [I]. It is in precipitating these symptoms that some anesthetic agents are dangerous. Treatment is the province of the specialist. The patients are well hydrated and are given glucose, analgesics, and hematin infusions [1,2]. The three types of porphyria patients at risk of iatrogenic exacerbation are: Hereditary coproporphyria, an autosomal dominant genetic rarity clinically indistinguishable from acute intermittent porphyria. Acute intermittent porphyria, the Swedish type, an autosomal dominant trait without skin lesions and with principally neurologic effects. Variegate porphyria, the South African type to be discussed below, also called "mixed" porphyria. It is the result of an autosomal dominant ?University of Pretoria, P.O. Box 667, Pretoria 0001, Republic of South Africa.© 1988 by The University of Chicago. All rights reserved. 003 1-5982/88/3104-0586$01.00 Perspectives in Biology and Medicine, 31, 4 ¦ Summer 1988 \ 567 genetic trait. Patients commonly exhibit both marked skin lesions and neurologic symptoms. In coproporphyria and variegate porphyria the disease can be detected by ascertaining an excess protoporphyrin in the feces, even when the disease is quiescent [3]. In South Africa, especially in the Eastern Cape area, anesthesiologists routinely screen the feces preoperatively in all of their patients [3]. Variegate porphyria is not a rare disease among Afrikaners. The word "variegate" was first used in the superb epidemiologic study that Dean and Barnes published in 1959 [2], in which the genetic pedigrees of some 200 individuals with variegate porphyria were traced to their origin in a single pair of married Dutch colonists who settled in South Africa in 1688 [1, 2]. For the 10 subsequent generations, possession of this gene did little to affect fecundity, robust health, or longevity. Only with increased use of medicinal drugs in this century did the porphyrias acquire clinical significance in the form of drug-induced acute attacks characterized by visceral pain, psychosis, and, of special interest to anesthesiologists , acute neurologic involvement which has not uncommonly led to unexpected respiratory paralysis and death after surgical procedures . Between 1950 and 1971, 145 acute attacks in 120 patients were treated in the Medical Research Council's unit at Groóte Schuur Hospital, Cape Town. Of these attacks, 31, of which two were ultimately fatal, were precipitated by thiopental sodium administered for surgical anesthesia [4]. During the last decade, at least one acute exacerbation of variegate porphyria per year was treated at both Groóte Schuur Hospital and Pretoria General Hospital. In Pretoria, I have encountered two ultimately fatal cases from respiratory failure occurring 24-48 hours after administration of thiopental anesthetics. Among known porphyries whom I anesthetized in Pretoria, there was a female patient who had undergone appendectomy, colectomy, hysterectomy, and many cystoscopies and pyelograms before porphyria variegata was eventually diagnosed at the age of 29 years as the source of her difficulties. Dean [1,2] estimated that variegate porphyria is found in at least 0.3 percent of the population of South Africa as a whole; in the Eastern Cape, the incidence is as high as 3 percent. In South Africa, affected subjects frequently wear bracelets and armbands to alert attending physicians , and it is usual for their postpubertal relatives to be screened for fecal protoporphyrinogen. The residue on...

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Additional Information

ISSN
1529-8795
Print ISSN
0031-5982
Pages
pp. 567-571
Launched on MUSE
2015-01-07
Open Access
No
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