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Hughes Syndrome:all too simple to treat but too often ignored

Hughes Syndrome could be diagnosed by a simple blood test but remains dangerously under-diagnosed.

By Victoria Lambert
Last Updated: 10:46AM GMT 02 Feb 2009

The symptoms are so wide-ranging, most of us probably suffer from one of them: migraines and headaches, memory loss, poor circulation, blotchy skin, tinnitus and earache, tummy cramps, DVTs, recurrent miscarriage, infertility, giddiness, visual disturbance, leg ulcers, seizures, and even mini-strokes (a transient ischemic attack or TIA) or a diagnosis of MS.
But if you've been reading that list and have ticked off more than a couple, it is highly likely you could be suffering from a syndrome that's not only extremely common – affecting about one million people in the UK – but which is under-reported, misunderstood and dangerous to ignore, despite being simple and cheap to screen for and treat. Now, thanks to a new book that outlines 50 different case histories, anyone who may have this condition, known as Hughes Syndrome, can learn if they are at risk, and go armed to their GP to demand the blood tests that will put their minds at rest.
The book is written by Professor Graham Hughes, whom the condition was named after (it is also known more clinically as anti-phospholipid syndrome, because of the antibodies whose presence in the blood stream denote the illness, and also more prosaically as Sticky Blood Syndrome, because it causes the blood to clot around organs).
Prof Hughes explains that the best way to learn about it is through listening to the experience of patients. "When you sit in clinic, and listen to someone recite their symptoms, it is spine-tingling. They start with one thing, and then it all comes out. They all share some of this strange list of problems."
Interviewing the professor, I certainly found the hairs on the back of my own neck rising. In early 2004, I had been handed a diagnosis of anti-phospholipid syndrome by a gynaecologist who was investigating why I'd had three miscarriages. When I became pregnant that year, I was treated with aspirin and heparin (both blood thinners to prevent my sticky blood clotting and 'clogging' up the placenta). My reward was a healthy baby girl in 2005.
But it never occurred to me that other health problems could have been caused by the presence of the antibodies in my blood, or that this auto-immune condition needed keeping an eye on after pregnancy. I just saw it as a temporary issue for my child-bearing years, and put it to the back of my mind. But then I listened to Prof Hughes – and his list of symptoms was far too familiar. Tinnitus, ear ache, dizzy spells, headaches, poor circulation, memory lapses where I'd suddenly find a word or phrase had left my head as fast as it had entered. And worst of all, when he described aortic angina – terrible cramps of the stomach that develop about an hour after eating – for the first time in my life I had an explanation for a symptom that had plagued me since childhood and which had never been explained away despite every kind of gastroenterological test from exclusion diets to full-on colonoscopies. As Prof Hughes explained it wasn't irritable bowel syndrome (a catch-all label for a collection of symptoms in itself), but probably the effects of my stomach being poorly supplied by blood at the precise moment it As Prof Hughes explained it wasn't irritable bowel syndrome (a catch-all label for a collection of symptoms in itself), but probably the effects of my stomach being poorly supplied by blood at the precise moment it was attempting to do some hard work – digestion – leading to those severe cramps. He was not surprised at my ignorance. Hughes is a relatively new condition that is just beginning to become recognised by the wider medical community outside the specialised area of auto-immune diseases (in which the body's immune systems attacks itself). The professor first began to note the condition in the mid-Seventies when he was working in a rheumatology clinic in Jamaica. "I noticed there were a whole group of women, paralysed, and forced to use wheelchairs, with the same antibodies in their blood."
When he returned to the UK a few years later, he set up a working party to study the antibodies he had found. Very quickly, his unit had collected up hundreds of patients whose blood carried the antibodies and whose symptoms all resulted from clotting around major organs. "They weren't just suffering clots in their veins but also in their arteries which led to strokes and heart attacks."
Significantly, the clots were also found to have serious effects when they occurred at two particular organs: the placenta and the brain. In the former cases, this led to multiple and unexplained miscarriages. In the latter, they starved the brain of oxygen, leading to migraines, memory loss and what many patients simply described as 'fogginess'.
By 1983, Prof Hughes' team had gathered enough evidence for two papers to be published: one in the British Medical Journal and the other in the Lancet. For the team, this felt like a 'eureka' moment. "We were finally getting our message across. We all celebrated with a long lunch at the local Italian restaurant," says Hughes.
Gynecologists picked up the news fast; the respected royal gynaecologist Dr Anthony Kenny called it the major discovery in obstetrics in the 20th century, and it has revolutionised treatment of women with recurrent miscarriage. Where the antibodies are present, and blood thinners are given, to prevent clotting at the placenta, the rate of successful pregnancy soars from about 20 per cent to 80 per cent.
But in other areas – such as neurology and cardiovascular medicine – there has been less awareness. "We know that it is present in one in five men aged under 45 who have a stroke, and one in five women aged under 35 who have a heart attack. Yet, it is simply not being picked up early enough to prevent these illnesses. Because the symptoms can be subtle, patients do get sent round the houses," says Hughes. "The government is pushing hard on more awareness of strokes; it would be much easier for them – and more cost-effective – to initiate a testing programme for Hughes than to deal with the after-effects. Unfortunately, the Department of Health still regards it as a rare disease even though all the evidence points to it being remarkably common."
He says that the cost would only be a few pounds, and the two blood tests you need could be done in every lab in the world. And were Hughes to be detected, treatment would be equally cheap and cost-effective; most patients find half an aspirin a day is enough to prevent clotting and resolve their symptoms. Those with more severe problems are offered heparin or warfarin by daily injection.
It is not known yet what causes Hughes – the professor believes there is a genetic link – but research is also examining whether there is a link to smoking or the Pill. Certainly, the professor believes that young women who take the contraceptive pill should be screened automatically for Hughes as it also increases the risk of DVT. He would also like to see all pregnant women examined – not forced to wait for three distressing miscarriages before they are 'allowed' to be referred for testing.
The Dean of Medicine of the University of Barcelona, Miquel Vilardell said in 2004: "There are two new diseases of the late 20th century: Aids and the Anti-phospholipid Syndrome." How does it feel to have the latter named after you?

"I'm very pleased and honoured," says Prof Hughes "It was a British discovery and a great British team." Now all he needs to do is make sure the British population is fully aware of the condition and how easy it is to treat.
Understanding Hughes Syndrome – Case Studies for Patients by Graham R V Hughes (Springer) is available from Telegraph books for £7.99 plus 99p p&p call 0844 8711515 or go to For more information, visit ______________________________________________________

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