This year, 2013, is the 30th anniversary of our first description of the antiphospholipid syndrome, published in 1985 in the British Medical Journal and the Lancet.
I still remember the excitement of the discovery. All medics know how difficult it is to get an article published in the Lancet. On the day the Lancet article came out (describing our new 'anti-cardiolipin' test) came out, our whole team descended on a local Italian café for a celebratory pizza! - (described in my book 'The Flying Doctor', published by Hayward Press).
The following year, 1984, we held our first 'world symposium' on the syndrome. I think there were 34 attendees. The second, two years later, in St Thomas' Hospital was a much grander affair.
This year, the 14th International Congress on Antiphospholipid Antibodies (kenes.com/apla-laca), to be held in Rio in September, is expected to host as many as 1000 attendees. How things have changed!
We also plan our own celebration at St Thomas' Hospital. On Thursday 27th June we are holding a two hour 'anniversary symposium' during the annual "Ten Topics in Rheumatology" postgraduate meeting. Speakers will include Professor Meroni (Milan), Professor Shoenfeld (Israel), Professor Tincani (Brescia) and Dr Mackworth-Young (London), as well as Professor Khamashta and myself.
Hopefully, there are two new books due out soon. Professor Khamashta and I have produced a small volume called "Hughes Syndrome- Highways and Byways" (published by Springer) - a collection of 80 or so of the clinical features of the syndrome. The other book will be a collection of three years' worth of my monthly 'patient of the month' blogs.
Thanks to the sponsorship of the commercial kit-testing company INNOVA, I hope that we will be in a position to distribute many of these books at meetings, and through our charity. We have a lot to thank kit-testing companies such as INNOVA. Not just for sponsorship such as this, but more importantly for contributing to the availability of antiphospholipid (and other) antibody testing to hospitals and laboratories in every corner of the world.
Patient of the Month
“It’s all in the mind”
Mrs LL (33 years old) arrived with her husband for her appointment without a doctor’s letter. It was somewhere in the post. The history, however, was clear.
Since her childhood, she had suffered from severe migrainous headaches.
At the age of 21 she suffered an acute life-threatening pulmonary embolus, treated for a period with warfarin, but followed by another pulmonary embolus three years later. For the following decade, she received intermittent treatment, but none was sustained.
At the age of 30, she suffered a transient ischaemic attack (‘TIA’ or mini-stroke). A brain MRI was normal. Other symptoms and problems developed. Her balance became a problem. Her memory and, in particular, her ‘word finding’ became poor. She was forced to give up her job. Other problems included a tendency to faint, a tendency to abdominal pain following a meal (gastroscopy was normal), occasional angina-like chest pains and episodes of ‘weakness’ in the legs.
She had become pregnant twice, but each ended in miscarriage. She and her husband had received conflicting advice, but the consensus was for no further pregnancies.
For years, the diagnosis remained a mystery, and at least one doctor recommended a psychiatric opinion.
Finally, tests for antiphospholipid antibodies were found to be strongly positive. Yet still no specific treatment had been started.
On examination, she was uncomplaining, despite her ordeals, and gave a clear history. She had cold hands and feet, and two of the tell-tale features pointing to Hughes syndrome – blotchy skin livedo, and a dry tear-test (suggesting the commonly associated autoimmune condition, Sjogren’s syndrome).
Worryingly, the reflexes in the legs were exaggeratedly brisk (especially on flexion of the neck) – possible problems in the spinal cord.
I arranged my own tests and am due to see her for follow-up next week.
What is this patient teaching us?
The history suggests almost a “full-house” for Hughes syndrome, with migraine, memory loss, miscarriage, TIA, livedo reticularis. Also possibly associated are abdominal pains (abdominal angina?), spinal cord involvement, and possible ‘autonomic neuropathy’.
At least 6 possible lessons:
1. Migraine, next to memory loss, is the commonest feature of Hughes syndrome. I can only hope that one day, careful studies from migraine clinics will support my contention that Hughes syndrome is an important and potentially treatable cause of migraine.
2. Memory loss is almost universal in our more severely affected Hughes syndrome patients. We have previously published on the marked memory improvement when anticoagulation treatment is started.
3. The brain and nervous system are frequently affected in Hughes syndrome. As well as her migraine, memory loss and TIA, this patient almost certainly had involvement of the spinal cord – “myelopathy”, and of the autonomic (internal nerves) nervous system.
4. Pregnancy. Given appropriate treatment future pregnancy is not out of the question.
5. Tests for Hughes syndrome. In this patient, two positive tests - anticardiolipin and anti-Beta2GP1 – now available cheaply and world-wide thanks to the kit companies – were strongly positive. If only these tests had been carried out years before.
6. Need a psychiatrist? Not on your Nellie! How tragic is it that in the 21st century, and 30 years after the discovery of Hughes syndrome, so many patients have to go through this ordeal?
Professor Graham Hughes' March blog
