Wednesday, 3 October 2012

Drugs in porphyria


You are working in the developing world and a patient with known acute intermittent
porphyria presents for emergency surgery. Which one of the following pharmaceuticals
would it be best to AVOID in this patient?

a) Suxamethonium
b) Halothane
c) Aspirin
d) Pancuronium
e) Ropivacaine


Answer: e

Explanation
The porphyrias are an example of pharmacogenetics in anaesthesia. Porphyrins (of
which the most significant in humans is haem) are essential molecules concerned with
oxygen transport and handling in the cell. They are manufactured via a sequence of
enzyme-catalysed reactions from glycine and succinyl CoA. Congenital deficiencies in
these enzymes lead to accumulation of porphyrin precursors, or porphyrinogens,
which are responsible for clinical manifestations of the condition. The porphyrin
biosynthesis pathway is very efficient and normally <2% of the precursors are produced
in excess of that required for haem synthesis. The principal rate-limiting enzyme
is δ-Aminolaevulinic acid (ALA) synthetase, which catalyses the initial combination of
glycine and succinyl CoA. ALA synthetase is under tight negative feedback control via
haem concentrations. If haem concentration falls, the enzyme is disinhibited and the
biosynthesis pathway is encouraged. In the various types of porphyria, there are
deficits in subsequent enzymes in the pathway. Acute attacks are precipitated by a
drop in haem concentration prompting ALA synthetase to produce δ-ALA. Subsequent
enzymes are then unable to continue the pathway. As haem is a pivotal component in
cytochrome P450, enzyme-inducing drugs will increase demand for haem, drop its
concentration and thereby induce an attack of porphyria. Unfortunately drugs to
avoid are not limited to the usual quoted enzyme inducersbecause there are a multitude
of mechanisms by which administered drugs may reduce haem concentration or
induce ALA synthetase. Drugs are classified by international consensus as use, avoid, use
with caution and use with extreme caution only.

Reference
James MF, Hift RJ. Porphyrias. Br J Anaesth 2000; 85(1): 14353.

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