Victims give clues to the answers
The development of an autopsy protocol may help unlock some of the mysteries of chronic fatigue syndrome, writes Julie Robotham.
UNDER the microscope, it could not have been clearer. Sophia Mirza's brain and spinal fluid showed indisputable evidence of inflammation and cell death.
The discovery, by the neurologist Abhijit Chaudhuri and a neuropathologist colleague, marked the first time a serious abnormality confined to the central nervous system had been identified at the post-mortem examination of a patient whose principal diagnosis was chronic fatigue syndrome.
In turn, that ensured the 32-year-old became the first person in Britain to have the syndrome – also known as myalgic encephalomyelitis – recorded as the cause of her death.
In Adelaide last month, Chaudhuri and specialists from all over the world took the first steps towards developing an autopsy protocol that would allow samples to be consistently collected and analysed from the bodies of people who die, like Mirza, after a long battle with the syndrome. These would form the basis of an international tissue bank in an attempt to shed light on what goes wrong in the baffling condition, which often strikes young and previously healthy individuals. It could help "establish the condition as a valid neurological problem", Chaudhuri says, and might lead to treatments.
Chaudhuri, a consultant neurologist from the Essex Centre for Neurological Sciences, says the protocol is intended to allow non-specialist pathologists to collect and preserve samples, which could then be examined by a neuropathologist. The move comes amid concern that brain and spinal cord tissues which might shed light on the disorder are being lost because pathologists do not appreciate their significance.
In Mirza's case, and in another autopsy on a young British man, "there was no way [their illness] could be explained by a primary psychiatric condition", Chaudhuri says, referring to a widespread assumption that the condition – which typically begins after a viral illness and is estimated to affect up to 140,000 Australians – is related to mental stress.
Daniel Peterson, an American physician who specialises in chronic fatigue syndrome, says its name has allowed it to be trivialised. "These are very complex patients to understand," he says. "We've been held back by biases."
Peterson, who is establishing a research centre at the University of Nevada, says he is most interested in forms of the condition that arise after recognised infections, which seem to trigger immune disturbances.
The specialists' meeting in Adelaide was organised by Christine Hunter, via the Alison Hunter Memorial Foundation, which Hunter formed after the death a decade ago of her teenage daughter, who had chronic fatigue syndrome. As the protocol is formalised, the group will seek endorsement from experts around the world, she says, to accelerate its acceptance by the wider medical community.
Elizabeth Salisbury, a senior staff specialist in tissue pathology at Royal North Shore Hospital, says formal guidelines would encourage those conducting autopsies to retain appropriate tissues for later genetic, antibody or biochemical testing.
"One of the difficulties with a disease like CFS is [it] is very much an emerging science," says Salisbury, who is not involved in the protocol's development. "We don't necessarily understand all the pathological changes that account for the signs and symptoms."
Salisbury says families of patients who die after having chronic fatigue syndrome or other complex, elusive disorders usually support tissue removal. "They really do want the answers," she says.
Colin Neathercoat, a director of the advocacy group ME/CFS Australia, says the cost of supporting patients with long-term disability from the syndrome is enormous, and more funding is needed for research into its origins and possible treatments.
"We would desperately like to see government engage in this growing problem and recognise its impact on the Australian economy, let alone its impact on sufferers," he says.