The Olympics arrived in London. The weather held and the organisation worked like clockwork.
One of the most successful aspects for me was the clever choice of venues, highlighting the beauty of London – Greenwich Park (horse riding), the Mall (cycling and marathon), leafy Surrey (cycling), Lords (archery), Wimbledon (tennis!), Eton Dorney (rowing) and, of course, Horse Guards Parade for the beach volley ball.
As a commuter into London Bridge Hospital, the journey could not have been easier. Far from a madding, chaotic London Bridge station, the place was half empty – I got a seat each morning on the train. Central London was deserted.
The games themselves were fun, exciting – and sporting. Congratulations to everyone involved.
On a medical note, an interesting study was recently published, suggesting that positive anti-beta2 antibody tests were found to be significantly frequent in a group of multiple sclerosis (MS) patients – a follow on from last month’s blog highlighting the need for more sensitive and specific tests in Hughes syndrome.
Which brings me onto this month’s ‘patient of the month’.
Case of the Month
This month’s case report is rather different: the diagnosis is not certain, and the treatment hasn’t been started yet.
Ms Q.L, a 49 year old veterinary surgeon was referred to me for a second opinion by her neurologist.
The sixty-four thousand dollar question was ‘does she have multiple sclerosis (MS) or does she have Hughes syndrome?’ She had a past history of migraines, especially severe in her early twenties. Her father and sister were both migraine sufferers.
In 2004, at the age of forty, she developed numbness in one foot, together with some unsteadiness of gait. She had also suffered from aches and pains. A number of doctors were consulted and, at one stage, Lyme disease was considered – but not proved.
Various diets were tried – with possibly some improvement with gluten restriction.
Three years ago, she was seen by a neurologist who found a number of clinical abnormalities suggestive of MS, a diagnosis confirmed on MRI which showed a number of small lesions in the brain and spinal cord.
Investigations revealed positive tests for antiphospholipid antibodies (aPL), and she was referred to me for a second opinion.
On examination, apart from the neurological abnormalities, she had dry eyes (with a bone dry tear test). She also had blotchy livedo on the skin of the knees.
Our investigations confirmed the positive aPL tests, as well as strongly positive anti-thyroid antibodies. Thyroid tests showed a raised TSH (‘lazy thyroid’).
What is this patient teaching us?
I highlight this patient because she presents one of the biggest unanswered clinical problems associated with Hughes syndrome. What is the link between Hughes syndrome and MS? Is it just a statistical overlap between two relatively common conditions, is APS one of the causes of brain inflammation and ‘demyelination’?
In the case of Ms Q.L, the clinical and MRI findings carried out by a very observant and highly regarded neurologist do strongly suggest MS.
But there are some (admittedly weak) clues suggesting Hughes syndrome – the severe migraines, the presence of thyroid antibodies, the dry eyes (possibly Sjogrens) and the history of aches and pains. And, of course, the positive aPL tests.
Some years ago, we carried out a questionnaire of patients attending our lupus clinic, then at St Thomas’ Hospital. All patients were asked ‘did your doctor at any time consider a diagnosis of MS?’ Interestingly, one third of all aPL positive patients responded ‘yes’ compared with 8% of all the aPL negative lupus population.
We also carried out a study with our neurology and x-ray colleagues and found that differential diagnosis was far from easy – and that included MRI imaging.
For me, one of the striking observations in clinical practice has been the improvement – sometimes marked improvement - seen in a number of these difficult cases when anticoagulation is started.
Of course the difficulty is that any patient diagnosed as MS would dearly wish to have an alternative diagnosis. Sadly, some neurologists still remain unaware of the full picture of APS – or even consider a positive aPL test as an ‘incidental finding’. This patient’s neurologist was much more open-minded.
What next? Perhaps one day more advanced brain screening tests may help in diagnosis. Or maybe improvements in aPL testing – such as those being tested by kit companies. In the meantime, as with other patients with this clinical picture, we are left with a clinical trial, either firstly aspirin or, at some stage, with three weeks of low molecular weight heparin. Such an important issue. I will keep you posted.
Prof Hughes' July blog
