Hughes Syndrome

Could you have been given the wrong diagnosis?
By Judy Graham

Up to 5% of those diagnosed with Multiple Sclerosis don't have the disease at all. They have something called antiphospholipid syndrome or ‘Hughes Syndrome’, a hidden blood disease which in some ways mimics MS.

It is also known as "Sticky Blood Syndrome".

This finding from a study by a leading team of British researchers at St Thomas’ Hospital in London. Instead of having MS, these patients could be suffering from this relatively new disease which mimics some symptoms of MS.

Like MS, Hughes Syndrome can affect mobility, memory, the speech and the nervous system. But the differences. Hughes Syndrome is easy and cheap to treat.

What is Hughes Syndrome?

Hughes Syndrome is the common autoimmune disease that makes blood more sticky or thick and therefore more prone to clotting in both veins and arteries. Lack of awareness of this condition means it is often missed or overlooked.

Sticky blood can affect old and young, men and women alike and is found in all countries. No one knows what causes it although there is evidence that there is a genetic link.

Current research shows Hughes Syndrome is responsible for a fifth of strokes under 45 years, a fifth of cases of deep vein thrombosis, including so-called ‘economy class syndrome’. It is the cause of 1 in 5 recurrent miscarriages. Hughes Syndrome can also mimic Alzheimer's disease, ME, and is linked to migraine. If it is left untreated sticky blood can kill.

MS the wrong diagnosis?

The St Thomas's Hospital found that up to one-third of patients coming to their clinic did not have MS at all, but Hughes Syndrome.

Doctors there were seen numerous patients who had been told they had MS and were confined to a wheelchair having lost the use of their legs. They were subsequently re-diagnosed as having Hughes Syndrome. Within weeks, and in some cases days of starting on the blood-thinning drugs they were out of their wheelchairs and walking.

Prompted by a growing number of patients coming to the clinic who had been told they had MS when they didn't, the team at the Rayne Institute questioned a sample of 250 patients with Hughes Syndrome. They found that almost a third of them had originally been told they had MS.

Dr Graham Hughes, the British physician who first identified the condition (hence the name) is concerned by these findings. Dr Hughes says sticky blood is dangerously under-diagnosed and believes there is an urgent need to raise levels of awareness among the medical profession and the public.

“The study makes us feel very strongly that there is a group of MS patients who in fact have a different disease which is treated totally differently and very successfully.

What concerns us at the clinic is that we do not know how many patients amongst the wider population remain undiagnosed. We are just one group of doctors at one hospital.

If you consider that we have almost 900 patients who have Hughes Syndrome, that means 300 were told they had MS. If you broaden the picture you can soon see how this could affect a large number of people.”

Dr Hughes wants to see more research to establish how the people of being wrongly diagnosed.

“We believe there is an urgent need for a major collaborative study of the link between the two diseases. Doctors need to be more aware of Hughes Syndrome can be difficult to distinguish between the two conditions.”

How Hughes Syndrome mimics MS

Symptoms include problems with:

• Mobility - difficulty in walking, tripping and dragging foot
• Vision - double vision
• Tingling feelings
• Fatigue
• Balance
• Speech
• Memory

How can you tell the difference between MS and Hughes Syndrome?

Dr Hughes says there are clues that will help point to sticky blood:

• recurrent headache or migraine
• previous thrombosis
• recurrent miscarriage

If any of these are present then the blood should be tested for Hughes Syndrome. Dr Hughes and his team have developed two inexpensive blood tests that are available at most laboratories and will show the presence of sticky blood.

Further Information

Living with Hughes Syndrome’ - Your essential guide to ‘Sticky Blood’.
By Triona Holden, a former BBC News Presenter.
Published by Sheldon Press
£6.99
Available from bookshops.

Contact: The Hughes Syndrome Foundation:
The Rayne Institute, St Thomas' Hospital, London, SE1 7EH.
Webpage: www.hughes-syndrome.org 

Read/download the article: I guess that's why they call it the Hughes

The Multiple Sclerosis Society warned that the vast majority of people with this progressive disease of the nervous system should not draw false hope from claims that 5% of them in reality have a less serious condition.

An article in today's Times suggested that hundreds of people who had been told they have MS could be suffering from Hughes Syndrome - a condition that leads to dangerous blood clotting but which can be easily treated if recognised.

Hughes syndrome can lead to problems with the supply of oxygen to the brain, causing neurological symptoms similar to those associated with MS. But, unlike MS, Hughes syndrome can be treated with blood-thinning drugs.

The Times article, based on figures from the Hughes Syndrome Foundation - www.hughes-syndrome.org , reported a number of "seemingly miraculous recoveries", with patients regaining the ability to walk after being treated for Hughes syndrome rather than for MS.

But a spokesman for the MS Society said: "These cases should not offer false hope to the vast majority of people with MS who have been properly diagnosed".

He added: "There are a very, very few cases where people have been misdiagnosed with MS when they actually have got Hughes syndrome. There is a simple blood test that can be made to avoid any doubt."

The MS Society spokesman also questioned the Hughes Syndrome Foundation's figures. "We would like to know where the figure of 5% came from and what solid evidence there is for it."

The foundation's manager, Kate Fitzpatrick, admitted that the figure was based on anecdotal evidence. But she insisted that "hundreds" could have been misdiagnosed with MS.

"We don't want to get patients' hopes up, but if they do have any doubts they should get tested," she said.

Around 100,000 people in Britain have MS. Up to 150,000 could be suffering from Hughes syndrome.

Source: Guardian Unlimited © Guardian Newspapers Limited 2006

This condition, discovered in 1993, mimics MS but can be easily treated with blood thinning drugs or aspirin.

Mr Simper has now started a crusade to make the condition more well known.

He believes other people who have been told they have MS may have Hughes Syndrome.

More than 150,000 people in the UK have the condition, which also causes recurrent miscarriages and chronic migraine.

"When I first heard about it I contacted my doctor and he had never heard of the condition," he said.

People with Hughes Syndrome suffer abnormal movements, dizzy spells, short-term memory loss, headaches and angina.

For more than a quarter of a century Mr Simper has been in fear of ending up in a wheelchair or even dying.

'Wary of developments'

Mr Simper said that his problems began after he was seriously assaulted and knocked out in 1980.

He had a legacy of injuries to all parts of his body from crashes as a motorcycle racer.

"The tests for MS are a matter of eliminating other conditions and I had nothing else.

"Then a few months ago my daughter drew my attention to an article about Hughes Syndrome. I'm wary of new developments in my condition but asked my doctor about it and he had never heard of it.

"Now I am doing all that I can to make people aware.

"I'm not jumping up and down with joy yet because I am going to have my first referral at St Thomas's Hospital in London, which is the main treatment centre, in October.

"I have spoken to neurological hospitals, other GPs and even NICE to draw attention to the condition.

"It could save the government millions of pounds on care and drugs if many people diagnosed with MS have Hughes Syndrome instead."

Causes miscarriages

A spokeswoman from the Hughes Syndrome Foundation - www.hughes-syndrome.org  said the condition was discovered by Dr Graham Hughes when a group of people he was treating for Lupus, the immune-system disease which is his speciality, did not fit the classic mould.

After painstaking detective work he found they all had a strange antibody in their blood which caused it to thicken and clot.

This caused less oxygen to reach the brain, body organs and the placenta in pregnant women.

It accounted for migraine, one in five recurrent miscarriages, deep vein thrombosis in young people and many other conditions which could be treated by aspirin, heparin injections and in more serious cases with warfarin.

Source: BBC Health News

The rheumatologist Dr Graham Hughes reported in the British Medical Journal in 1983 that he had identified the syndrome - now called Hughes Syndrome - that resulted in blood becoming sticky, leading to potentially dangerous blood clots.

Evidence has emerged that it could cause one in five recurrent miscarriages, as well as one in five strokes in younger people, and one in five DVTs (deep vein thromboses).

The good news is that, unlike multiple sclerosis (MS) - which affects 100,000 Britons - the syndrome can usually be treated with blood-thinning drugs such as aspirin and warfarin.

"It is still totally under-recognised," says Dr Hughes, now a professor at the London Lupus Centre. He estimates that five per cent of MS patients may be misdiagnosed.

For 26 years, John Simper, 60, from Ipswich, Suffolk, thought he would suffer the slow degeneration of MS, only to find he had Hughes Syndrome.

After the first blood tests came back positive a few weeks ago, he began campaigning for the test to become routine so some of the other estimated 150,000 people with the syndrome can be diagnosed. "The Government has to take notice," he said.

"Few GPs are alert to the condition and lack of knowledge causes thousands of people to suffer needlessly, not only by thinking they have MS but, in the case of female sufferers, by having unnecessary miscarriages", said Prof Hughes.

He recommends that two simple blood tests be routinely offered to any MS patient who has suffered recurrent headaches, problems with clots such as DVT, a family history of autoimmune diseases, or who has had recurrent miscarriage.

Once the syndrome is diagnosed, aspirin, or anticoagulants such as heparin and warfarin, produces a dramatic reduction in symptoms in 80 per cent of patients, he said.

Dr Alasdair Coles, of Cambridge University, praised Prof Hughes's work, but said: "With modern techniques and careful inquiry, the number of people incorrectly diagnosed with MS is low."

The Department of Health was "not aware of any evidence that population screening would be beneficial".

Hazel Edwards, 48, of North Wales, was diagnosed with MS five years ago and ended up paralysed from the neck down.

She is now able to walk again, having been correctly diagnosed by Prof Hughes.

"As soon as I started warfarin, my memory improved and I found I could walk. I can drive and go to the gym. Prof Hughes and his team gave me back my life. But I feel very let down. My first symptoms of Hughes emerged 28 years ago."

Source: Telegraph.co.uk © Copyright of Telegraph Group Limited 2006.

Q: Can you have MS AND Hughes Syndrome? Or does it have to be one or the other?
A: It's probably one or the other. But they may have things in common which need further investigation.

Q: Is it worse to have MS, or Hughes Syndrome?
A: HS is easily treatable. However, if HS is left untreated, you could have thrombosis or a stroke.

Q: Should a test for HS be done routinely when MS is suspected?
A: Yes! It's a tragedy that people are wrongly diagnosed with MS when Hughes Syndrome is so easy a cheap to treat. To get a test for HS, you have to ask your GP.

Q: How do you test for Hughes Syndrome?
A: There are two simple blood tests. Anticardiolipin Antibodies and Lupus Anticoagulant. If you have HS, it means your immune system is producing proteins, or antibodies, that make the blood far more stick than normal.

Q: Are the results of the blood test for Hughes Syndrome clear-cut?
A: The blood tests can give a range of results from 'weak positive' to 'strong positive' But we don't dismiss someone with a weak positive result. Also, only one of the two blood tests needs to be positive.

Q: Is the blood test the only way to get a certain diagnosis of HS?
A: Yes, at the moment.

Q: The main way MS is diagnosed is by MRI scan. If white plaques show up, isn't that a sure sign that it's MS?
A: No. White dots can show on an MRI with HS too. So it can be difficult to tell the difference between MS and HS from an MRI scan. These just show anatomical lesions.

Q: How well known is Hughes Syndrome amongst doctors?
A: Despite the fact that the syndrome is now 20 years old, some doctors have still not heard of it.

Q: What if someone's GP didn't know what to do if they prove positive for Hughes Syndrome?
A: The GP should get in touch with us and ask for a brochure about our GP Programme. I have also written a book for doctors. Patients can be referred from anywhere to St Thomas's.

Q: What percentage of patients diagnosed with MS have actually got Hughes Syndrome?
A: We don't know the exact percentage. A conservative estimate is said to be 5%. It could be more. We are working with MS clinics to find out. At our clinic at St Thomas's Hospital in London, 32% of patients with HS were originally diagnosed with MS.

Q: How does 'sticky blood' cause neurological problems similar to MS?
A: Sticky blood is like petrol in a car that's too thick and the engine stutters. If the blood is too sludgy, the brain is affected. So is the placenta in pregnancy. If the brain does not get the oxygen it needs, you get neurological symptoms. If it's severe, then you get ischaemic lesions which show up on an MRI scan. These can certainly cause problems with walking, for example.

Q: What are the main differences between MS and Hughes Syndrome?
A:In HS, patients have a history of previous thrombosis - blood clots, a high chance of miscarriages during pregnancy, headaches are very prominent, and maybe blotchy rashes on the skin of the knees and forearm.

Q: What are the similarities between MS and Hughes Syndrome?
A: Clinically, there is considerable overlap, but the cause is different.

Q: When someone was told they had MS, but it turns out they have Hughes Syndrome, what effect does this have on their lives?
A: It's a tragedy. Some of our patients who have been given the label of MS have lost so much in their lives. But they could have been treated so easily.

Q: What's the treatment for Hughes Syndrome?
A: Aspirin, or the blood thinning drugs heparin or warfarin.

Q: Do diet and natural substances like gingko biloba, evening primrose oil, fish oils, garlic etc have the same blood-thinning effects as these drugs?
A: They have a mild effect but they certainly wouldn't get the same effect as the drugs. Anyone diagnosed with HS should definitely take one or other form of anticoagulant.

Q: Is it dangerous not to treat Hughes Syndrome?
A: Yes. Hughes Syndrome is too dangerous not to treat as there is a high chance of clotting. Over a 10 yr period, 50% get thrombosis. This could cause a stroke which could leave them paralysed, or it could be fatal.

Q: If you've got Hughes Syndrome, what will MS treatments like beta interferon do for you?
A: They won't work

Q: If you've been told you've got MS but then turns out to have Hughes Syndrome, can you regain your former abilities once you start on treatment?
A: Obviously, the sooner you start treating someone the
better. It's also easier to treat younger people than older people. For some patients, their symptoms disappear within weeks of starting on anticoagulant drugs and there's no neurological progression. With more disabled patients, it depends how much disability there is. You can get some reversal of symptoms, and physiotherapy helps.

Q: In Hughes Syndrome, is it the blood that's sticky, or something about the blood vessel walls which makes the blood stick to them?
A: It's probably a fault in the blood itself. The blood is thicker than it should be. We don't know the precise reasons why.

Q: In Hughes Syndrome, there is a problem with blood coagulation, platelets and phospholipids. But isn't that also the case with MS?
A: There are similarities and could be certain common factors.

Q: If someone with MS also has a problem of coagulation, could they benefit from going on the drug treatment for Hughes Syndrome?
A: It's conceivable.

Q: What research is going on into the links between MS and Hughes Syndrome?
A:Research is going on throughout the world. Our unit at St Thomas' is currently carrying out collaborative research projects with colleagues in Japan, Italy, Spain, Israel and France.

Q: Some readers are confused about their blood test results. eg "I have a reading of 10. Does that mean that I have half MS and half Hughes Syndrome?"
A: No.

Q: At what level does a blood test become conclusive for Hughes Syndrome?
A: Each laboratory gives its own 'negative' and 'positive' range. If the reading gives an unclear result, it should be repeated.

Q: Can it mean - as some readers are suggesting - that some patients with MS have a coagulation problem?
A: No, some patients who've been told they've got MS don't have MS at all; they have Hughes Syndrome - a coagulation disorder. The treatment for that is aspirin or warfarin.

Symptoms which could be MS or HS

• Pins and Needles
• Vertigo
• Eye problems
• Ataxia (staggered walk)
• Loss of sensation
• Muscle weakness
• Movement disorder
• Difficulty walking
• Bladder incontinence
• Speech Difficulties
• Fatigue
• Depression

More Likely in Hughes Syndrome

• Blood clots/Thrombosis
• Headaches/Migraine
• Strokes/Heart attacks<
• Memory loss
• Recurrent miscarriage (Not universal)
• Blotchy rashes on skin
• Aches, pains, cramp
• Low platelet count
• Dry eyes

What Makes MS Different?

• Attacks on myelin
• Relapses and remissions (in most cases)
• Degenerative

Further Information

Hughes Syndrome Foundation
The Rayne Institute
St Thomas' Hospital
London SE1 7EH
Tel: 0207 188 8217
Website: www.Hughes-syndrome.org
Email: [email protected]

© Multiple Sclerosis Resource Centre (MSRC)