Prof Hughes' August blog

The Olympics arrived in London. The weather held and the organisation worked like clockwork.

One of the most successful aspects for me was the clever choice of venues, highlighting the beauty of London – Greenwich Park (horse riding), the Mall (cycling and marathon), leafy Surrey (cycling), Lords (archery), Wimbledon (tennis!), Eton Dorney (rowing) and, of course, Horse Guards Parade for the beach volley ball.

As a commuter into London Bridge Hospital, the journey could not have been easier. Far from a madding, chaotic London Bridge station, the place was half empty – I got a seat each morning on the train. Central London was deserted.

The games themselves were fun, exciting – and sporting. Congratulations to everyone involved.

On a medical note, an interesting study was recently published, suggesting that positive anti-beta2 antibody tests were found to be significantly frequent in a group of multiple sclerosis (MS) patients – a follow on from last month’s blog highlighting the need for more sensitive and specific tests in Hughes syndrome.

Which brings me onto this month’s ‘patient of the month’.

Case of the Month

This month’s case report is rather different: the diagnosis is not certain, and the treatment hasn’t been started yet.

Ms Q.L, a 49 year old veterinary surgeon was referred to me for a second opinion by her neurologist.

The sixty-four thousand dollar question was ‘does she have multiple sclerosis (MS) or does she have Hughes syndrome?’ She had a past history of migraines, especially severe in her early twenties. Her father and sister were both migraine sufferers.

In 2004, at the age of forty, she developed numbness in one foot, together with some unsteadiness of gait. She had also suffered from aches and pains. A number of doctors were consulted and, at one stage, Lyme disease was considered – but not proved.

Various diets were tried – with possibly some improvement with gluten restriction.

Three years ago, she was seen by a neurologist who found a number of clinical abnormalities suggestive of MS, a diagnosis confirmed on MRI which showed a number of small lesions in the brain and spinal cord.

Investigations revealed positive tests for antiphospholipid antibodies (aPL), and she was referred to me for a second opinion.

On examination, apart from the neurological abnormalities, she had dry eyes (with a bone dry tear test). She also had blotchy livedo on the skin of the knees.

Our investigations confirmed the positive aPL tests, as well as strongly positive anti-thyroid antibodies. Thyroid tests showed a raised TSH (‘lazy thyroid’).

What is this patient teaching us?

I highlight this patient because she presents one of the biggest unanswered clinical problems associated with Hughes syndrome. What is the link between Hughes syndrome and MS? Is it just a statistical overlap between two relatively common conditions, is APS one of the causes of brain inflammation and ‘demyelination’?

In the case of Ms Q.L, the clinical and MRI findings carried out by a very observant and highly regarded neurologist do strongly suggest MS.

But there are some (admittedly weak) clues suggesting Hughes syndrome – the severe migraines, the presence of thyroid antibodies, the dry eyes (possibly Sjogrens) and the history of aches and pains. And, of course, the positive aPL tests.

Some years ago, we carried out a questionnaire of patients attending our lupus clinic, then at St Thomas’ Hospital. All patients were asked ‘did your doctor at any time consider a diagnosis of MS?’ Interestingly, one third of all aPL positive patients responded ‘yes’ compared with 8% of all the aPL negative lupus population.

We also carried out a study with our neurology and x-ray colleagues and found that differential diagnosis was far from easy – and that included MRI imaging.

For me, one of the striking observations in clinical practice has been the improvement – sometimes marked improvement - seen in a number of these difficult cases when anticoagulation is started.

Of course the difficulty is that any patient diagnosed as MS would dearly wish to have an alternative diagnosis. Sadly, some neurologists still remain unaware of the full picture of APS – or even consider a positive aPL test as an ‘incidental finding’. This patient’s neurologist was much more open-minded.

What next? Perhaps one day more advanced brain screening tests may help in diagnosis. Or maybe improvements in aPL testing – such as those being tested by kit companies. In the meantime, as with other patients with this clinical picture, we are left with a clinical trial, either firstly aspirin or, at some stage, with three weeks of low molecular weight heparin. Such an important issue. I will keep you posted.

10 Replies

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  • This was very interesting and informative. Interesting case study. Thanks for sharing!!!

    And the Olympics were a blast!!!! I live in the US but had fun watching everything I could on the telly.

  • I am one of these, who is in limbo at the moment, have been diagnosed with M.S. since 1997, after back surgery had a DVT, my grandmother, mother and brother have all had DVT, so my hematologist, did a blood test for protien s and then got a positive also for A.P.S. which has been retested 3 times each time a positive result, my neurologist is not interested, I do not think that I do not have M.S. but do have A.P.S. all I want is to be able to manage it safely with all my other medication as I scuba dive which is my passion but does include flying long haul, I am flying christmas eve, will inject with Clexcine for the flight, diving for me is what keeps me going Ilearnt whilst in a wheelchair it felt as if I had got my legs back, no longer wheelchair bound thanks to meds and my spirit I hope, had to fight to get my neuro to agree that for me scuba was not a threat to my medical condition, now a new challange that is the reason I have already booked my trip for christmas eve before the diciesion is taken out of my hands why does it always have to be a fight, do not care what my illness is just the best treatment for me, will keep fighting thanks for listening

  • Good for you. Mary F x

  • I would like to know what is wrong with Neurologists, why can they not realise that this condition exists, if they looked at the past medical history. It would give them the answer. How nice that their are one or two that might diagnose it, mine didn't and I really hate him for it,

    Karen xx

  • My history is:

    Anno 1997 - Diagnostic: psoriasis slightly legs. Medication: Cream

    april 2009 - Autoimmune hemolytic anemia - steroid medication.

    Results of analysis

    ANTI-cardiolipin. IGG (24) [lpg / ml] IGM (69) [mpl / ml]

    Antinuclear antibodies (ANA) 1/320

    Lupus anticoagulant - presence of lupus inhibitor

    C3 (78) C4 (5)

    AUGUST 2009 - Diagnostic ANTIPHOSPHOLIPID SYNDROME - medication: inmuran (azathioprine) 100 mg, Plaquenil (hydroxychloroquine) 400mg, 100mg aspirin

    March 2012 - I do not take drugs for my decision

    July 2012 - Results of the analyzes

    ANTI-cardiolipin. IGG (21.8) [lpg / ml] IGM (3,4) [mpl / ml]

    b2-glycoprotein IGG (7.7) [u / l] IGM (11.9) [u / ml]

    I have no manifestations thrombosis, abortions, and others.

    I NEED YOUR OPINION! THANKS

  • Glad to hear fears of chaos at London Bridge Stn were unfounded. Yes the Olympics and the Paralympics are an inspiration to us all. Your case study is fascinating and I was interested to read the inclusion of Sjogren's in the possible diagnosis. Some of the symptoms you write about were similar to my own - Sjogren's and Hughes Syndrome. I will always be so grateful that with your help and support you have reduced the likelihood of migraine after a lifetime of severe pain and discomfort and given me the relief of having a diagnosis to hang my other symptoms on. After being told there was nothing wrong and beginning to think"it was all in my head," it was a huge positive step forward to take the medication and "get on with it".

  • I have very similar symptoms to this lady.

    Numbness in my right leg and foot balance problems etc.

    I was initially investigated for MS and my MRI shows Lesions/ White Matter damage and small vessel disease.

    I have memory, coordination, muddled words and concentration problems.

    I have also suffered from fatigue, pain just about everywhere and terrible brain fog along with having very pronounced Levido.

    I tested positive for APL. I see Prof. Khamashta to whom I am eternally grateful in no small way and especially as he was the first Doctor to believe I was actually ill and not a raving hypochondriac!

    I am now on daily Clexane 80mg and initially symptoms improved but have now returned with a vengeance along with Muscle Spasms, Dry Eyes, Nose and Throat (which gives me difficulty in swallowing and makes me sound like a donkey on helium).

    I am constantly dizzy. I get twitchy eyes and most recently very annoying facial twitches.

    The mystery is are all these symptoms caused by APS or have I something else going on?

    Further anti coagulation may serve as a prevention against having strokes, DVT and heart attack but maybe it doesn't prevent all the complications of this illness.

    I would be so grateful for some answers but am willing to concede that maybe there aren't any yet.

    Sue

  • hi Sue, a lot of your symptom, are very similar, brain fog, dizzy, legs which you cannot trust, swallowing, sight problems, which have now returned almost to normal, always tired, cramps and spazams, yes sometimes you feel very alone and getting doctors to take u seriously can be a challenge, only you know your body and if something is wrong, fight they will listen eventually, best wishes Angela

  • Thanks Angela,

    I was trying to make the point that even with diagnosis and treatment there is still the problem of the underlying illness that causes all the other complications.

    I haven't any problem with my Consultant Prof. Khamashta he has been brilliant.

    I do know what you mean in general though.

    I have long held the theory that if the body's autoimmune system has gone wrong then when we suppress the symptoms it is causing it strives to reverse to what it deems as normal. i.e. if the body thinks it needs to clot our blood when it doesn't if we make it thinner it will try to make the blood clot all the more.

    Hope this makes sense.

    x

  • Hello,

    A fascinating case. This could have been me. I so wish I lived in England and could get to Prof. Hughes!

    In 2005 I was diagnosed with MS and spent almost 2 years in a wheelchair. However the neurologists were unsure what to do with me. Although my mri had the brain lesions and I had the balance problems, my leg and arm jerked (if that is the correct term, excuse me if it is wrong), I had (and still have) migraines, and other markers, the doctors held off on giving me ms medication. The symptoms subsided, which is very strange.

    At the same time, I have Sicca (dry eye syndrome). Also I have livedo on my arms and legs which is always evident but sometimes looks like a makeup artist has been at work it is so bad. The doctors just ignore it completely. Have been aware of it since being a teenager.

    My neurologist only feels I have a headache disorder and seizure disorder. However, he gives me the medicines I feel I need so I pass his ignorance off. Same goes for the rest of my doctors. My hematologist feels my APS is no big deal, even though I've had a stroke and more tia's than can count. There just is not better medical care available where I live and traveling is not an option for me. My trying to educate these doctors has been to no avail, they are in a box which seems to have steel walls.

    Because I do get the medicines I feel I need I just sigh and hope down the road that education shall reach the provincial areas such as Michigan in the US of A.

    I still have attitude, strength, humor, etc., and am sort of sorry for these docs. '-)

    So glad to read this blog!!!

    Keep up the good work, everyone, and we WILL keep on getting better.

    Leigha

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