Coincidence! Two weeks ago there was a newspaper article about a young mother who had had a stroke. Perhaps because of one's own particular interest, I wondered if she was one of the army of previously undiagnosed patients with Hughes syndrome.
A week later I was asked by a neurology colleague to see a young stroke patient whom he had admitted. She was the same newspaper article woman. She had strongly positive antiphospholipid antibody (aPL) tests, and, yes, she had had a past history of migraine, of two miscarriages and a suspected DVT.
Last week, two colleagues (Dr. Chris Edwards and Professor Munther Khamashta) and I spent an evening with lupus and Hughes syndrome patients in a meeting at the Royal College of Physicians - a meeting organised by Arthritis Research UK, the national charity.
One question which came up concerned the prevalence in the population of Hughes syndrome.
As always, no clear answer. All three of us felt that in our own clinics, cases of Hughes syndrome easily outnumbered lupus, though 'selection bias' may well have informed our impressions.
The published prevalence figures range from 0.5% (1 in 200 people) to a striking 5% (5 people in every 100). We genuinely believe that as more neurologists, cardiologists and other doctors routinely test for aPL, the syndrome - a potentially preventable cause of major medical problems such as migraines, thrombosis, pregnancy loss, heart attack, stroke and memory loss, will become better recognised.
Patient of the Month
A 38 year old housewife was referred by the cardiologists. She had been investigated by them for cardiac arrhythmia and occasional angina. There were no obvious underlying risk factors and the only family history was of thyroid problems and migraine. The cardiologist tested for aPL and the result was positive.
When I saw the patient, there was little to add to the cardiologist's suspected diagnosis of Hughes syndrome. The chest and heart problems were significant.
What next? Aspirin, heparin or warfarin? The cardiologist favoured warfarin.
The other significant feature of the history only became apparent on questioning about memory. And what a history!
"I have to write everything down". "My husband and my closest friends have noticed my memory problems". "I was worried about Alzheimer's but didn't do anything". "I often forget my own address".
Treatment? In the event, anticoagulation won. The patient was started on daily injections of heparin.
Almost immediately, the mental 'fog' cleared. More important than the memory problems - at least initially - the heart symptoms improved.
The patient now remains stable, no chest pains, memory fine. No Alzheimer's - on warfarin.
What is this patient teaching us?
Alzheimer's? The often unspoken fear of many, many patients with Hughes syndrome.
So many patients, often towards the end of their consultation, confess to their memory difficulties. These range from difficulties in remembering words, to taking much longer over normally routine activities such as Sudoku or crossword puzzles (I'll come back to that later).
In others (usually untreated patients) the memory defects can be severe - "I'm the joke of the family", or "I'm worried that I'm developing Alzheimer's". Sadly, in some cases, the memory loss becomes critical and several memory and psychometric studies have been published on patients with Hughes syndrome.
Yet Alzheimer's disease and Hughes syndrome are totally different conditions. For a start, the appearances on MRI are different - Alzheimer's appearing as cloud-like areas in the brain, Hughes syndrome either with a normal MRI or, in more severe cases, small 'dots'.
And of course, the outcome is very different. Alzheimer's is largely untreatable while the memory loss in Hughes syndrome commonly responds well.
And the treatment? Aspirin, heparin or warfarin? In most patients with milder disease, aspirin or its cousin clopidogrel ('Plavix') alone improves the symptoms.
However, when brain features are prominent, most patients ultimately respond to warfarin. So many patients on starting warfarin remark on "the fog lifting" though often only when the anticoagulation is thorough.
The blood 'thickness', measured as the so-called 'INR' (international normalised ratio) is critical. Most patients on warfarin run at 'half thickness' (an INR of 2) - but many, many patients with brain symptoms of Hughes syndrome only respond well when the INR is higher - often over 3.5. Interestingly, many patients 'know' their INR. Indeed one of my patients on warfarin is keeping a record for me of the time she takes each day to complete the Daily Mail crossword (previously 15 minutes) compared with her INR, measured by her own self-testing kit.
What about heparin? Its usefulness is, of course, limited by the fact that it needs to be injected. Nevertheless, we have found a new use for heparin. When faced with the difficult decision of whether to start warfarin in, say, a patient with increasing headaches, or severe memory loss, it is my practice to give a three week trial of daily (low molecular weight) heparin injections: safe, if uncomfortable.
This "therapeutic trial" often gives us a clear indication of the potential impact of anticoagulation.
In one young woman, (published in my book "Understanding Hughes Syndrome" (Springer), word-finding ability on formal psychometric testing improved from under 20% to over 90%.................... a result not equalled, according to our professor of Psychiatry, by any conventional psychiatric drug!
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Catastrophic Hughes!!
From doctors to professors
