Patients can now be officially diagnosed after just one clinical episode.
New guidelines for diagnosing multiple sclerosis will enable patients to be diagnosed faster – often after a single episode of the disease – speeding up treatment, experts say.
The global benchmark for diagnosing MS, the McDonald Diagnostic Criteria, has been updated to include tests that are less invasive, such as optical coherence tomography and newer spinal fluid tests.
MS Australia’s Head of Research, Dr Tennille Luker, said the revisions were designed to enable earlier and more accurate diagnosis of MS.
“These new guidelines will hopefully reduce misdiagnosis as well, because there are a few more tests you can use that will at least give doctors more confidence in diagnosing people,” she told The Medical Republic.
“The key updates include radiologically isolated syndrome – which is MS-like damage seen on MRI scans without symptoms – can now be diagnosed as MS if supported by other tests like MRI markers or kappa free light chain test, which is proteins in the spinal fluid.”
The optic nerve is now also recognised as a location of MS, which Dr Luker said, “expands the diagnostic reach”.
“New tools like optical coherence tomography and kappa free light chains offer less invasive and more accessible diagnostic options,” she said.
The authors of the new guidelines said in The Lancet Neurology that around 25% of people with MS presented with optic neuritis as the initial manifestation.
“Most patients with multiple sclerosis exhibit optic nerve involvement postmortem,” they said.
The new guidelines now allow MS in adults and children to be diagnosed after a single clinical episode.
Under the previous guidelines – which were last updated in 2017 – patients needed to have a second clinical episode before diagnosis.
“Dissemination in time is no longer required, so MS can be diagnosed based on dissemination in space alone, if other criteria are met,” Dr Luker said.
A single clinical episode referred to the first noticeable neurological symptom that might suggest MS, she said.
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“Some examples could include sudden vision problems in one eye such as blurred vision or pain often linked to inflammation of the optic nerve, numbness or weakness in arms or legs which might be caused by inflammation in the spinal cord, balance issues, dizziness, double vision which can result from inflammation in the brain stem, and unusual sensations or difficulty moving parts of the body, depending on where the nervous system is affected,” Dr Luker said.
“With these symptoms, if they’re supported by scans or tests, we may be able to confirm a diagnosis using the updated criteria without needing to wait for that second episode to occur.
“Now we can use the criteria to diagnose people earlier and get them on treatments earlier, because time is brain, and if you get people on treatments earlier, it’s a better outcome for them.”
The guidelines also expand criteria for diagnosing children and adults aged over 50 years.
Patients over 50 were more likely to be misdiagnosed, the researchers said. In this cohort “small vessel ischaemic disease, psychiatric disorders, and some autoimmune diseases are associated with an increased risk of misdiagnosed multiple sclerosis,” they said.
“Headache disorders, particularly migraine, are associated with periventricular lesions and an increased risk of misdiagnosis of multiple sclerosis,” they wrote.
Dr Luker said an MS diagnosis was usually confirmed by a neurologist, but GPs played a critical role in the early recognition of the disease and in the referral process.
“Having an idea of the symptoms and what the criteria includes will empower GPs to act sooner when MS is suspected, like recognising red flag symptoms like optic neuritis, ordering initial investigations such as MRI scans, referring to a neurologist, and also providing that continuity of care and supporting patients through that diagnostic journey.”
Dr Luker said the average time to MS diagnosis in Australia was four years after the onset of symptoms.
Earlier treatment “massively slows down disability progression”, she said.
“All the research supports that if you get someone on a high efficacy treatment sooner rather than later, then that slows disability right down,” she said.
