March saw a marvellous new initiative here in London. Baroness Estelle Morris, the Chair of our charity, and Baroness Drake succeeded in raising the issue of Hughes syndrome (antiphospholipid syndrome/APS) in the House of Lords. By doing this, they have succeeded in ramping up the awareness of the importance of the illness and its treatment across a broad spectrum of politics, of media publicity and, hopefully, of more concerted action. Thank you both.
Twenty years ago, we started a series of articles in our journal ‘LUPUS’, called ‘Lupus around the world’. This month, I have been reviewing the hundred or so articles in the series.
In lupus, as you can imagine, there have been enormous strides. For example, a study from Spain reported that in their country, the mean age of death in lupus patients increased with time, from 42 years in 1981, to 61 years in 2010. Of course, social and economic improvements are fundamental to this improving picture.
What about Hughes syndrome? Possibly too early to say. Nevertheless, the ‘lupus around the world’ series is producing some interesting reports of relevance:
Does lifestyle affect the outcome in Hughes syndrome patients? A fascinating series of studies by Dr Malaviya, a New Delhi rheumatologist, compared data in New Delhi with Kuwait, where he had spent time working. The prevalence of positive aPL tests in both cities was the same. But interestingly, the incidence of thrombosis was far greater in the Kuwaiti population.
And health economics? In a study of 256 patients from Lebanon with Hughes syndrome, only 50% had both anticardiolipin (aCL) and lupus anticoagulant (LA) tested …“The cost of each test was around US $50 for the patient…… it remains to be seen whether the test costs might partially explain the very small percentage of patients who did undergo a follow-up confirmatory test”.
Patient of the month
“Twenty years on”.
Mrs M.J. married at the age of 22. She and her husband tried for pregnancy – at first unsuccessfully. Things changed a year or so later when she first became pregnant. Sadly, her first two pregnancies ended in miscarriage after three months. Even more tragically, her third pregnancy ended in stillbirth at eight months.
At this time, Hughes syndrome was becoming recognised in the obstetric world, and Mrs M.J. was tested for antiphospholipid antibodies (aPL). She was found positive. One further pregnancy came along, and this time Mrs M.J. was treated with heparin and aspirin. There was discussion at the time as to whether both drugs were required – but caution won. Happiness with Gillian now aged 20.
No further pregnancies. Mrs M.J. combined motherhood with part-time work as a medical receptionist in a G.P. practice.
She remained well, apart from occasional migraine headaches (also a prominent symptom in her sister who also suffered from MS).
Twenty years later, whilst at work in her G.P. practice, Mrs M.J. suddenly developed alarming symptoms including headache, confusion, difficulty in speaking and pins and needles down one side of her body.
To cut a long story short, the hospital diagnosis was a ‘TIA.’ (or mini-stroke). Investigations included a normal blood pressure and a normal brain scan. She was treated with anti-clotting medicines and recovered fully. Tests for aPL were again positive. She was 42.
What is this patient teaching us?
As always, a number of lessons.
Firstly, the diagnosis and management of miscarriage. Official recommendation is that aPL testing should be considered after three miscarriages. Although this advice is based on the fact that there are many other causes of miscarriages, and the cost of testing all pregnancies would be too high, to test earlier in Mrs M.J. would have prevented a stillbirth – one of life’s greatest tragedies – in Mrs M.J.’s fourth pregnancy attempt.
Could there be any way of screening out ‘at risk’ patients? For some years I have been advocating a standard three question questionnaire, which obstetricians and midwives could apply at pregnancy check-in. They are:
1. Have you ever had a thrombosis?
2. Do you suffer from migraine?
3. Do you have a family history of autoimmune disease? (eg. thyroid, lupus, rheumatoid, MS).
Mrs M.J. was positive for two of these (a sister with MS).
The second very, very important lesson is – make sure the recurrent miscarriage patient is followed up. In most patients, positive aPL tests don’t ‘go away’. Mrs M.J.’s case was typical of many – miscarriages in their 20s, thrombosis or TIA in her early 40s – totally preventable.
One of the messages the Hughes Syndrome Foundation is working to get across is – stroke is a preventable complication in some patients with APS. Early diagnosis is based on a very simple blood test (aPL) - and listening to the patient.