Prof Graham Hughes October 2016 Blog

October Blog 2016

In October, the European Lupus Meeting was held in Venice. Professor Shoenfeld and I were asked to give the opening lectures at the conference. My talk was on “The Challenges of 2020”.

As far as Hughes Syndrome is concerned, there are still major challenges – the best anticoagulant, what to think when the tests are negative yet the clinical features strongly point to the diagnosis, and the screening for ‘sticky blood’ in pregnancy – to name but three.

Another ‘challenge’ concerns the causes (and treatment) of ‘funny turns’ in Hughes Syndrome – the topic of this month’s ‘patient of the month’.

Patient of the Month

‘Funny turns'

Mrs L.B., aged 47, was admitted to hospital having had 3 seizures. They were witnessed by her daughter, who was with her, and who felt that they were epileptic.

Mrs L.B’s past history was complicated. She had been diagnosed several years earlier with Hughes Syndrome, having had a collection of symptoms including headaches, slurred speech, sleep disturbance and ‘funny turns’. During these episodes, she would develop ‘the shakes’ with movements of the hands and feet, muscle contractions and a feeling of ‘not being there’. Between episodes, she was reasonably well, though still complaining of fatigue and occasional severe headaches.

The diagnosis of Hughes Syndrome had been made some 10 years earlier, when investigations showed a deep vein thrombosis and positive aPL tests. She had been taking warfarin for 6 months following the DVT, but then stopped, and was now on low dose aspirin (irregularly).

In the family history, her mother and one sister had lupus, and an aunt was diagnosis with M.S.

On admission to hospital, Mrs L.B. developed a shaking attack – originally thought to be a rigor – secondary to infection. The urine test did in fact show a slight infection but blood cultures were negative.

During the course of her admission, she suffered several similar episodes. On those occasions, the movements appeared more ‘epileptic’ in the opinion of the neurologist.

A new set of investigations showed a normal MRI brain scan. However, an EEG (electro-encephalogram) showed prominent abnormal epileptic waves, including discharges from the temporal lobe of the brain. Her tests for ‘sticky blood’ (aPL tests) were positive.

During one of her turns, an interesting observation was made. She was given oxygen via an oxygen mask, with marked improvement. She was finally started on heparin injections with a view to starting warfarin. Success.

What is this patient teaching us?

A patient recently contacted NHS Choices website, asking why the many brain symptoms, such as mini-strokes, were always attributed to brain clots – especially as patients such as her had normal brain MRI.

I thought she had a fair point : my own view is that cerebral blood sludging is a more likely explanation than full blown clotting – for 2 main reasons: firstly, the normal MRI in so many cases, and secondly, the often full and dramatic resolution of the symptoms with warfarin or heparin.

The other lesson from Mrs L.B. is the importance of seizures in Hughes Syndrome.

Some 30 years ago, my registrar, Dr Charles Mackworth-Young and I wrote a paper suggesting that in lupus patients seizures were more common in those lupus patients with positive aPL tests. (1)

Since then, there have been many reports of the association. Two of my own cases stick in my memory.

The first was an American Diplomat’s wife who had mild lupus, but with severe epilepsy, the latter requiring up to 6 anti-epileptic drugs a day. Whilst in London, she developed a DVT (yes, she turned out to be aPL positive), was started on warfarin – with dramatic reduction in the frequency of fits. (2)

The second was a family tree of one of my Hughes Syndrome patients. She was an EEG technician by profession. During her training, she EEG tested 4 of her brothers and sisters. All 4 had abnormal EEG’s : temporal lobe epilepsy! (3)

The colleague who has contributed the most to this subject is my friend Dr Rolando Cimaz from Milan. In one study, he found that an amazing 20% of teenagers with idiopathic (not due to trauma etc.) epilepsy were aPL positive. (4)

Coincidence! Today I received this month’s volume of the journal LUPUS. The first article was an outstanding review entitled “Hughes Syndrome and epilepsy”, from the excellent research group in the American University Medical Centre, Beirut, Lebanon. (5)

As newer imaging techniques showing blood flow, oxygen uptake, and so on, are developed, we will certainly learn more about the mechanisms of brain manifestations of Hughes Syndrome.

Professor Graham R V Hughes MD FRCP

Head of The London Lupus Centre

London Bridge Hospital

References

1.Mackworth-Young C & Hughes GRV

Epilepsy : an early symptom of SLE

J. Neurol Neurosurg Psychiatry 1985 48 : 185

2.Hughes GRV.

Understanding Hughes Syndrome

Springer. ISBN 978-1-84800-375-0 (Case 3 : Diplomatic epilepsy)

3.Hughes GRV.

Hughes Syndrome/APS. 30 years on.

LUPUS 2014 23 : 400-406

4.Cimaz Review. Cimaz R, Meroni P, Shoenfeld Y.

Epilepsy as part of SLE and systemic antiphospholipid syndrome (Hughes Syndrome).

LUPUS 2006 15 : 191-197

5.Noureldine MHA et al.

Hughes Syndrome and epilepsy : when to test for antiphospholip antibodies?

LUPUS 2016 25 : 1397-

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14 Replies

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  • Thank you APsnotFab for that very interestingOctober blog!

    Interesting with the lack of oxygen and clots and sticky blood.

    Kerstin

  • The usual good quality and informative read. MaryF

  • Very interesting indeed. Thank you. 'M'

  • I was diagnosed with epilepsy, still makes me cross that the local neurologist told me that Hughes syndrome doesn't exist

  • Very annoying indeed, but not an uncommon uniformed type of statement from that branch of medicine! MaryF

  • This is really interesting. I was told I was positive for lupus anticoagulant aged 26 following my dad also testing positive (he was 55 and had suffered a stroke). I was advised by my GP that I did not require medication unless pregnant. At the age of 30 I had my first pregnancy and was treated with aspirin and heparin from week 6. at 36 weeks I was told to stop the heparin and five days later I blacked out whilst shopping, banged my head and was told I had a seizure, I regained consciousness once in the ambulance and once at hospital was diagnosed with preeclampsia or eclampsia, my baby was induced and born healthy. Four years later I had an early miscarriage and six months after a successful pregnancy, treated with aspirin and heparin , again I managed to get to 36 weeks when my blood pressure shot up and I was induced, I had another healthy baby. I have been relatively well since (I am now 42) with periodic episodes of dizziness and joint pains throughout my adult life until approximately 8 weeks ago when I blacked out whilst shopping, banged my head and regained consciousness approximately 15 minutes later, I was told I had a tonic clinic seizure. I have just seen a neurologist this week who said she believes the seizure caused the blackout and I'm now waiting for a MRI scan and EEG. I have asked if the lupus anticoagulant could be linked, she said to wait to see what the MRI scan shows. I had previously spoken with my GP who had written to a neurologist for advice about this whilst I was waiting for the appointment, interestingly he said he was not aware of any evidence to link the two. before the most recent episode I had been having periods of feeling lightheaded which continue at times now with a muzzy headache.

  • I hope you will see a Specialist of APS now. We have learnt here that the Neurologists do not "get" what APS is about - too thick blood that has to be thinned.

    We need proper anticoagulation.

    Best wishes to you from Kerstin in Stockholm

  • sr71 If I were me I would ask for a trail of LMW heparin, perhaps dalteparin 10,000iu for a month to see if it helps with symptoms. This is what happens quite a lot in London and if it is successful you know that stickyblood is your problem and anticoagulants is what you need. You may then need something like warfarin to keep things steady.

  • Thanks for the information. When you say in London, do you mean patients who go to the Lupus centre?

  • Mainly, although they will also trial it elsewhere in the UK with a supportive APS specialist too.

  • Thank you. Yes, apart from during pregnancy, doctors I have spoken to don't seem concerned about the lupus anticoagulant, presumably because I havent experienced a stroke or a dvt etc.

  • Probably as you have not seen the "right" APS-Doctor yet. That is a must for us with APS incl the antibody Lupus Anticoagulant (LA).

    Kerstin

  • So are they just going to wait till you have a clot before they treat you then? If you are symtomatic then they should be treating you with something.

  • Very in-ter-es-ting ( though how many of us remember Laugh In?) -- I went into a seizure after an orthopedist pulled a shunt out of my knee without a numbing agent. Subsequent tests showed that I had latent temporal lobe seizure disorder. Nothing since then, and my official diagnosis was temporal lobe seizure disorder with intense pain as the trigger. But now that I read this ---?

    Agsin, very in-ter-es-ting.

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