Prof Graham Hughes' blog May 2013

'The coldest spring in fifty years?’ Anyway, whatever this month's record was, it was certainly unseasonable. And it seems to have been unseasonable over much of Europe .Last Friday I was in Zurich, where the snow level was at an unprecedented low for late May.

The Zurich meeting was interesting - a one-day gathering at the airport hotel of lupus clinic doctors from a number of European countries. The emphasis was on new drugs for lupus and our current clinical experience of them. In particular, the new 'biologic' - belimumab (Benlysta) - the first new drug to be authorised by the American FDA (but, sadly, not yet in the UK) for the treatment of lupus, is already proving popular with those centres who have access to it. Undoubtedly it will be tried in Hughes syndrome soon. So..... my role in the meeting was to update the doctors on Hughes syndrome and its treatment - as well as its links to lupus in some patients.

On Saturday we had an enjoyable reunion. Dr Charles Christian, and his partner Molly, came through London on their way back to the USA. Chuck, as he is known throughout our world, was my boss when I spent two years (1969 and 1970) in New York. He was a marvellous boss, who led by example and who treated everyone - including the lowliest research fellows, equally. For all of us, that was an exciting time. We were part of the team which introduced the 'Farr' DNA binding test to lupus. (Recorded in detail in my book 'Tales of a Flying Doctor' - Hayward Press). Chuck, now long retired, is universally regarded as one of the 'greats' in modern medicine and rheumatology.

The highlight of May was the annual Hughes Syndrome Foundation Patients' Day. Organised by Kate and her team, the Governors' Hall conference centre at St Thomas' hospital was full. As always, the question and answer sessions were fast-flowing and detailed. By far the most popular topic was self-testing of the INR (blood thickness) in those patients on warfarin. It does look as if older negative attitudes towards self-testing are changing. At last! For most patients the experience has been both positive and 'liberating' - for example, allowing warfarin patients to travel much more conveniently and safely.

Many thanks to Kate and her team of volunteers.

Patient of the Month

"Sero-negative APS"

Mrs L.H., aged 37, had a long history suggestive of Hughes syndrome. As a teenager she had been treated with steroids for thrombocytopenia (low platelets). She also had a long history of migrainous headaches, sometimes as frequently as once a week. She had had three miscarriages and had not had any successful pregnancies. At the age of 25 she developed a leg clot (DVT) for which she was treated for six months on warfarin. Other features in her history included mild mitral valve leakage and a number of attacks of balance disturbance ("Meniere's disease"). In her mid-30s the migraine attacks became more frequent and severe. Finally, she suffered a couple of 'mini-strokes' ('TIAs'). At this time, investigations showed a number of 'focal' abnormalities ('small dots') on her MRI brain scan. Blood tests were negative. She had started taking aspirin, but with little success.

Diagnosis?

For me, despite the negative aPL tests, the clinical picture points to Hughes syndrome: the low platelets, the migraine, the three miscarriages, the mitral valve disease (possibly) and the combination of both venous (DVT) and arterial (strokes) thrombosis.

Treatment?

Warfarin. The presence of lesions on brain scan and the history of TIAs in a 35 year old makes the decision easy.

She was started on warfarin. The result has, in Mrs L.H.'s opinion, been 'life-changing'. Headaches gone, energy levels hugely improved. No more "Meniere's".

What is this patient teaching us?

Since we introduced the concept of 'sero-negative APS' back in 2003 there has been much debate about its significance.

As the years have passed, I have seen more and more patients like Mrs L.H. whose clinical diagnosis fits Hughes syndrome, but in whom the lab tests (aPL) are negative.

For me, there are three possible explanations for the picture:

Firstly, of course, the diagnosis could be wrong.

Secondly, it is conceivable that the (aPL) tests, previously positive, had become negative with the passage of time. (It does sometimes happen).

Thirdly, and in my view the most likely, is that our current tests are short of perfect.

Three questions:

1) Does it matter?

2) Any other clues?

3) How to treat?

1) Of course it matters. Sadly , I see a number of 'sero-negative' patients where the clinical picture isn't fully believed, and where treatment is less than optimal.

2) Any other clues? Hughes syndrome is one of the so-called auto-immune diseases, and a family history is often significant. Mrs L.H.'s family history was remarkable - four sisters with migraine, miscarriages and thrombosis - one of whom had a diagnosis of 'atypical multiple sclerosis' and a second with underactive thyroid; mother and aunt with low thyroid and an aunt with Hughes syndrome - and positive aPL tests (also my patient).

3) Treatment? Despite the negative tests, I treat the patients the same way as I would those with positive tests - and the results are often as gratifying as those seen in many 'sero-positive' cases of Hughes syndrome.

6 Replies

oldestnewest
  • Thank you for posting ;-), for those with sero-negative APS a very interesting read and positive outcome of being treated with warfarin. So glad Mrs L H has had an excellent response and thank goodness for Prof Hughes!!! kathy xxx

  • Dear Kate,

    I want to take the opportunity to THANK YOU for the work you do for APS!

    Kerstin

  • Why thank you Kerstin :) Sometimes it does seem a bit too much to juggle all the charity business and administration as well as patient requests, newsletter, membership, website etc etc, but we now have a really good pro bono Chair and CEO and they keep me going :) Plus the lovely Yvonne now helps me working from home for a few hours a week which is a Godsend - poor thing is doing the Gift Aid next week bless her!

    I met the Chair and CEO at the House of Commons yesterday and we are going to start working on GP awareness in the next few months - doing some research at the moment so I'm hoping we can help more people get diagnosed quickly.

    Thanks for taking the time to post, it's nice to be appreciated :)

  • Well I did offer to help with the GP project as I had already started to do one for another Charity with the Patients Association producing a leaflet/pamphlet that patients could take with them to their GP with all the needed information that a GP would need to know about Hughes Syndrome. This was so that Patients could feel confident about talking through or giving their GP knowledgable and medically sourced information that they would trust and which they could discuss with or leave with their GP.

    It was thought better than producing info that is sent to GP's and is often just binned as junk mail before anyone has even bothered to look at it.

    The offer is still there as is the offer of help for anything else thats needed for that matter and its all voluntary.

  • Thanks APSn - I agree this would be a useful tool for patients although I still think we need awareness directed at GPs from the charity. I am meeting with London Bridge GP Liaison Team later this month to discuss different ways.

    Interestingly, one of our new trustees was the Vice President of the Patients Association at one stage so I think this would be a project he would be interested in (and may be able to help with), in the future.

    Please feel free to put something together - perhaps using the info from the website as well as your experience from the last one you prepared, or even do a poll here to ask the patients how they feel? I wouldn't be able to devote too much time to it immediately as I am now booked up with projects for the rest of the year, but I can really see a place for this in 2014. Nevertheless, I would love to see what you put together and the format etc.

    Thanks for your kind offer of help - much appreciated :)

  • Yes a poll would be a good idea.

You may also like...