Hughes Syndrome - The Blood Disease that Mimics MS - Could you have been given the wrong diagnosis? by Judy Graham

Case History

Jeremiah Sheehan a successful London architect, knows how devastating it is to be told you have MS, and then how stressful to hear it might be something else that you have never heard of and requires completely different treatment.

"I had so many things going wrong that I was described by one doctor as a medical chaosity, and although my story is a harrowing one I do feel I have been given a reprieve."

Jeremiah, 45, one of the key designers of the much acclaimed Rainforest Cafe in Piccadilly, had always been careful about his health. One of his favourite pastimes was hill-walking. But it was whilst in Scottish Highlands four years ago that he noticed a dramatic change in his health.

I had this paralysing fatigue that made it hard for me to even get back to the car. I thought it might be linked to asthma I had suffered from for many years."

But other symptoms developed. "I started having double vision, the beginnings of optic neuritis. Then I began to trip up and had problems with my balance. I had something called drop foot where I couldn't lift my toes so I would fall over them. I was getting badly bruised, at one point I ended up in casualty with dislocated ribs and gashes, I looked as though I had been in a war. The doctors didn't know what was wrong."

He was given a MRI scan. When the results came through his neurologist asked him if he wanted the 'good news' or the 'bad news'. Jeremiah's heart sank. Relief came with the news that he did not have a brain tumour. But the scan revealed small white dots, indicating a likely diagnosis of MS.

He was admitted to St Thomas' for further investigation. Out of all the tests done there was one blood result that didn't fit the MS picture.

Jeremiah had what are called antiphospholipid antibodies, indicating that he suffered from sticky blood. His neurologist referred him to another specialist.

After a while, Jeremiah saw consultant rheumatologist and specialist in autoimmune diseases, Dr David D'Cruz, at St Thomas' Hospital. Blood tests were run again to see if the antibody was still present. They were.

Once treatment with the blood-thinning drug warfarin began Jeremiah's symptoms started to disappear. "The medication kicked in very quickly. The tingling feeling in my fingers and toes went away, as did the double vision. In a matter of days I no longer needed the walking stick and the fatigue started to lift."

Up to one third of those diagnosed with MS don't have the disease at all. They have something called 'Hughes Syndrome', a hidden blood disease which in some ways mimics MS. It is also known as Sticky Blood Syndrome.

This is the finding from a new 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 of the symptoms of MS.

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

What is Hughes Syndrome?

Hughes Syndrome is a common autoimmune disease that makes the 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 gentic link.

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

MS: The wrong diagnosis

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

Doctors there were seeing 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 blood-thinning drugs they were out of their wheelchairs and walking.

Prompted by the 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 its 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 amongst 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 many people are 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 as it can be difficult to distinguish between the two conditions."

How Hughes Syndrome mimics MS

Symptoms:

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 headaches or migraine
previous thormbosis
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.

Info box.

'Living with Hughes Syndrome' - Your Essential Guide to 'Sticky Blood'. By Triona Holden, a former BBC News Presenter. Published by Sheldon Press Ł6.99. Available from bookshops.

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

This article was taken from the Pathways magazine - November/December 2002 edition.

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