Exposure to anaesthetic agents may be hazardous in some
genetic disorders. Myotonic dystrophy is associated with
increased anaesthetic risk and suxamethonium must not be
given to people with pseudocholinesterase deficiency.
Malignant hyperthermia (MH) is an autosomal dominant
condition in which individuals with MH susceptibility, who are
otherwise healthy, may develop life-threatening hyperpyrexial
reactions when exposed to a variety of inhalational anaesthetics
and muscle relaxants. Relatives with MH susceptibility can be
identified by muscle biopsy and in vitro muscle contracture
testing. This enables them to ensure that they are not exposed
to the triggering agents in any future anaesthetic. It is
recommended that susceptible individuals wear a MedicAlert or
similar medical talisman containing written information at all
times.
Exposure to sunlight precipitates skin fragility and blistering
in all the porphyrias except the acute intermittent form.
Sunlight should also be avoided in xeroderma pigmentosum (a
rare defect of DNA repair) and in oculocutaneous albinism
because of the increased risk of skin cancer.
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