Professor Graham Hughes Monthly Blog April 2016

Monthly Blog

April 2016

So soon after the March blog, here comes another. Like London buses – nothing for a while then two together. Hopefully I am making up for lost time following my illness.

My topic this month is “Twins” - what can they teach us? In diseases where there is a suspicion of a genetic tendency, twin studies can be very useful in assessing the strength or otherwise of that tendency. For example, some decades ago Dr Charles Christian (my former teacher and mentor) and his colleagues published a major twin study in lupus, which showed that twin siblings of lupus patients had a higher risk of lupus – but very significantly the increased risk was only moderate – suggesting that other factors were also in play.

In Hughes syndrome I have seen a number of pairs of twins. One recent pair is this month’s “Patient(s) of the Month”.

Patient of the Month

Miss D.S., aged 30, made an appointment to see me at The London Lupus Centre – at her mother’s suggestion. Her mother, aged 50-something, was a lupus sufferer and felt that her daughter’s problems might be related.

Miss D.S had a number of symptoms including balance problems, headache, visual disturbance and, most worrying, memory loss. She was single and worked as a hospital secretary. She was worried that the memory problems might cost her her job. She had been investigated by a neurologist and multiple sclerosis mentioned. But not definite.

When I saw the patient there were two abnormal findings – impaired balance and, in the skin, mild but definite livedo (“corned beef skin”). Her tests showed positive (medium high) for antiphospholipid antibodies (aPL). Lupus and other tests were negative.

To cut a long story short, she was treated firstly with aspirin (slight improvement), then a three week trial of heparin (vast improvement) and now on long-term Warfarin – back to ‘normal’.


That was some time ago.

Her identical twin sister, Miss J.S, also a hospital secretary (but in a town 100 miles away) came for her first appointment. And she was identical both in appearance and in her medical problems. She was suffering balance problems, headache, visual disturbance and memory loss. She also had a small area of skin livedo.

But there was one major difference:

Her tests were negative.

Negative aPL (using three different assays), negative lupus tests and all routine tests clear.

Is it Hughes syndrome? Would you treat?

My answer is of course yes. The symptoms and signs, the family history – mother with lupus and twin sister with Hughes syndrome are all possible clues and perhaps more important is that the patient had been well investigated but was no nearer any treatment or improvement.

As with her sister, J.S. was finally given a three week trial of heparin – with immediate effect. Miss J.S. is now another year on- and on regular Warfarin. Her words echo those of many similar patients: “I’ve got my life back.”

What is this patient teaching us?

Firstly, once again the family history. Some time ago, at our annual patients meeting of the Hughes Syndrome Foundation, I ran a straw poll asking if there was a family history of an ‘autoimmune’ disease (lupus, rheumatoid, thyroid, M.S., Hughes syndrome). A striking 60% of the patients attending gave a “yes” response as opposed to some 20% of the friends and “accompanying persons.”

And the negative tests? I see a number of patients who have all the features of Hughes syndrome but who have negative aPL tests. Probably significantly, a number of these patients are referred because of similar pictures in a close relative.

And do these “seronegative” patients respond to treatment? As with Miss J.S. the result can be quite clear cut and just as striking as in “seropositive” cases. Some doctors refuse to accept the concept of “seronegative” antiphospholipid syndrome. I disagree. Firstly, we are already discovering “new” tests for the syndrome, and these are being cross-checked in collaborative studies around the world. One such study is being discussed this week in an autoimmunity meeting in Germany.

Secondly, two other diseases went through the same learning process – “seronegative rheumatoid arthritis” and “seronegative lupus” in the last century. The concept immensely advanced our knowledge of these two diseases.

One final point: Out there in migraine clinics, in cardiology clinics, in miscarriage clinics, in multiple sclerosis clinics, in balance clinics, and even in (younger) memory loss clinics, there may be some patients – perhaps only a few – who do have Hughes syndrome but with diagnosis and treatment taken no further because “the tests are negative.”

Professor Graham R V Hughes MD FRCP

London Lupus Centre

London Bridge Hospital

15 Replies

  • H i Mary,

    Thanks to the Professor and to you of course!

    It shows how important anticoagulation is. I always repeat and repeat it  after the "Miracle" I experienced with Warfarin. It must be others like me out there.


  • All we can do is just keep raising awareness of the "seronegative" aspect of this condition. You would think, would you not, with the "do no harm" aspect that Doctors have to swear when they graduate, they would at least give us the benefit of the doubt! Unfortunately, and what it shows all to clearly from the results of the small Poll which I put up last month, many Doctors are prepared to wait till we suffer the awful affects of Strokes and other disabling side affects BEFORE they will either medicate or diagnose the condition. How short sighted and lacking in cost efficiency for the NHS. My Strokes immediate after care cost was £145,000 which could have been avoided. But more importantly the damage to my brain will never be fully repaired and for that the short sightedness, egoistic attitudes and blinkered views need to take responsibility and change their attitude!

    Thank God for Graham Hughes!

  • Agreed!   MaryF

  • Omg u took the words right out of my mouth! Thank you for that notsofab! Thank God for all of you and especially Dr, Graham Hughes and I pray he has a long healthy future and is able to continue what he does best ~~~ HELPING ALL OF US TO UNDERSTAND AND ACCEPT WHAT WE HAVE AND AS LONG AS HES AROUND I FEEL SO BLESSED TO B ABLE TO HAVE HIS AMAZING FEEDBACK IN OUT COMPLICATED LIVES! Thx again! I pray for Dr. Hughes for Health and Happiness always! 

  • This is brilliant! Thank you for posting and answers a lot of questions from my earlier post. 

    I hope Prof Hughes will be at patient day!! 


  • I am sure he will be.   MaryF

  • Thank you for that.  ⭐️⭐️⭐️⭐️⭐️

  • Thanks to you also.    MaryF

  • It's such a pity that the treatment and understanding of this condition is so inconsistent and even those who have trained under the Professor don't share his apparent belief of taking family history and a patient's symptoms seriously.

  • Some people do appear to have to go through every symptom including the more serious ones before being taken seriously!   MaryF

  • A very inretesting read, it is disheartening to see such difference in who you see and where to get a diagnosis.  

    I test very high triple positive, have memory, some balance issues, migraines, etc inc on and off LR and 2 confirmed miscarriages (sure there have been more early ones) but Louise coote won't confirm diagnosis and have told me if I have another miscarriage or a clot then they will confirm.  I take hydroxy and aspirin and I still don't feel right. 😞😞😞

  • Keep pushing, and keep as well as you can.   MaryF

  • I will do but it's tiring and they are not due to see me again for 7 months.  Is it worth making a private appointment to see professor Hughes will all my tests results or will I be wasting my money.   Would like to try a trial of heparin for a couple of weeks rather than on long journeys, think it would make a difference but I just don't think they will listen 😞 Fed up 😞

  • Hi, I believe that he is not taking on any new patients currently, but others with his team would be available, worth giving them a ring.  However I would do all blood tests the three usual ones, plus Lupus, Thyroid, Vit D, B and Iron, to lower costs, take the results with you.   MaryF

  • Yes I would take the test, have had thyroid and b12, vit D done last week.

    My last set of APS assays were done in December along with the Ana again, anti sm and RNP etc.

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