Just across the river from the Houses of Parliament, tucked away in St Thomas’ Hospital, works a man who should be recognised as one of the heroes of modern medicine. Yet despite being hailed around the world as having made one of the most important medical discoveries of the past 50 years, no one beyond a select band in the UK has heard of him or the syndrome he discovered — even though it has implications for all areas of medicine and affects 150,000 people in the UK.
About 20 years ago, the rheumatologist Dr Graham Hughes reported in the British Medical Journal that he had identified a syndrome that resulted in blood becoming sticky, leading to potentially dangerous blood clots. Since then, his discovery has been confirmed as the cause of one in five recurrent miscarriages, one in five strokes in younger people, and one in five DVTs (deep vein clots). Sticky blood is also strongly linked with migraine, Alzheimer’s disease, and infertility, and the numbers believed to be affected are larger than those with high-profile conditions such as Parkinson’s disease.
Internationally, hundreds flock to Dr Hughes’s lectures and fellow scientists have hailed his discovery by naming this strange condition Hughes syndrome. The dean of medicine at Barcelona University has said that there are just two new diseases of the late 20th century — Hughes syndrome and Aids.
Yet here? Here we’re hardly making the most of a great British achievement. Dr Hughes reckons that only a handful of GPs are alert to the condition and this lack of knowledge causes thousands of people to suffer needlessly — and thousands of unnecessary miscarriages. “Bit by bit, obstetricians and neurologists are picking up on it but GPs aren’t,” says Dr Hughes, who runs the Lupus Research Unit at St Thomas’s. “It’s not easy to pick up because sticky blood can affect every organ in the body. The commonest problems people have are migraine, headaches and memory loss. Some cases are picked up in infertility clinics and there is now a simple blood test provided to some women who have had two or more miscarriages. But it’s not routinely available. It’s inexpensive and should be standard for all pregnant women.”
Perhaps one of the reasons why Hughes syndrome hasn’t hit the headlines is that its discovery was the result of good old-fashioned clinical detective work — not massive research funding. Dr Hughes made his discovery through carefully observing and talking to thousands of patients — something, as he is only too aware, that most doctors nowadays have precious little time to do. He is obviously a master of the art, in conversation he is polite and enthusiastic — the kind of doctor you would really want to describe all your symptoms to in detail.
It started in the early 1970s, when he set up Europe’s first clinic for lupus (a type of arthritis) in Hammersmith Hospital. On his ward rounds, he was struck by the number of people who seemed to have a collection of symptoms — memory loss, balance problems, recurrent miscarriage, fluctuating blood pressure and recurrent thrombosis — who then went on to have strokes and heart attack. Testing their blood, he found that all had high levels of a kind of antibody that destroys phospholipid — a fat found in cells.
It was clear that these were not simply lupus symptoms. “Right from the start, we knew we were on to something,” says Dr Hughes. So he went to other hospital departments and asked if specialists had seen similar problems. Sure enough, liver clinics revealed people with liver blood clots who also displayed memory loss, fluctuating blood pressure and so on. The same pattern appeared in epilepsy, multiple sclerosis and pregnancy clinics. And all the patients with these groups of symptoms also revealed high levels of antiphospholipid antibodies.
Since 1983, a host of research papers has been published, tracing the antiphospholipid antibody as a key factor in a range of diseases. Dr Hughes believes he now understands the mechanism behind Hughes syndrome, or antiphospholipid syndrome as it is also known.
In people with a genetic predisposition to the syndrome, a virus seems to trigger the release of antiphospholipid antibodies into the blood. These attack the slippery coating of blood cells, so they become sticky, jam together and cause clots. Since clotting can affect every sphere of medicine, the syndrome can be at the root of many conditions. In pregnancy, clots block the placenta causing it and the foetus to wither and die. In neurological conditions, such as memory loss, the clots impair blood flow to the brain.
And now research by Dr Hughes and his team at St Thomas’ is revealing that many people with Hughes syndrome are being misdiagnosed as having multiple sclerosis. “Thirty per cent of people with Hughes syndrome have that label hanging over them at some stage,” he says.
Once Hughes syndrome is diagnosed through a blood test, then it is easily controlled. Taking aspirin, or anticoagulants such as heparin and warfarin, produces a dramatic reduction in symptoms in 80 per cent of patients.“We had one lady who had been wrongly told she had ‘mad cow’ disease, and she’s well now,” he says. Another was in a wheelchair, paralysed from the waist down — luckily, she was seen by a neurologist who referred her to us and she can walk now.”
It must be like being a miracle worker. But you also sense his realism. Sadly, until doctors throughout the UK become aware of sticky blood, the full implications of his discovery are unlikely to be realised. “I’m proud that the community decided to call it Hughes syndrome,” he says. “But I think they only did so because my name is easier to spell than antiphospholipid.”
Have you got it?
If you have had one or more of the following, you may have the sticky blood condition discovered by Dr Hughes:
Visit www.hughes-syndrome.org, or call 020-7188 8217 What’s in a name?
There have never been any strict criteria for a syndrome or disease to be named after its discoverer — it’s usually a matter of medical colleagues deciding that they deserve it. There’s invariably a more technical name for a condition, too. Here are some stories behind the eponyms.
Munchausen’s syndrome: the continuous fabrication of symptoms or an illness by a patient is named not after its discoverer but after the fictional Baron Munchausen, famous for his tall tales — such as sailing to the moon in a ship.
