Wet, wet, wet. Another record! Wettest April ever recorded! Grey and cold well into May. Yuck.
Three interesting meetings to report, the third being the annual Hughes Syndrome Foundation Patients’ Day earlier this week.
One meeting was an ‘emergency’ gathering of lupus doctors from a number of European countries, to discuss the new lupus drug ‘Benlysta’. This medicine, the first ever to be ratified for lupus treatment was developed after very extensive worldwide trials and found to meet strict medical requirements. It is now available in most European countries – but not England! NICE have turned it down on (I’m told) cost reasons. One unfortunate knock-on effect of this decision is that British lupus experts will have to rely on other countries such as Germany for experience in its usage.
The second meeting, the eighth international congress on autoimmunity was held in Granada, Spain. Although I was only there for 24 hours, it really was one of the most stimulating meetings ever. The world of autoimmunity covers the whole of medicine, from thyroid disease to Hughes syndrome, from vaccination to cancer treatment. And the scope gets wider and wider with, on this occasion, insights into autism, sleep disturbance, epilepsy, loss of smell, multiple sclerosis and pregnancy loss. Thanks to the leadership and energy of Professor Yehuda Shoenfeld, the presentations are all available online and in print.
The third meeting, the annual Hughes Syndrome Foundation Patients’ Day, held at St Thomas’ hospital was packed. After the short talks, there was a truly lively Q&A session, which covered topics ranging from sero-negative APS to the brain in APS, from life and travel insurance to newer anticoagulants, from genetics to when (if ever) to stop warfarin. Congratulations to Kate Hindle and Lynne Kirwin and their team of volunteers for arranging such as successful afternoon.
Case of the Month
Mrs DL, aged 52, complained of recurring headaches, ‘cold’ circulation, two previous leg clots, and more recently, memory problems and balance difficulties. She had a long history of ‘fibromyalgia’ – aches and pains. She had put on some weight, had ‘pins and needles’ in the fingers of both hands, and finally – the problem which brought her to my clinic – a TIA (mini stroke).
Investigations showed a blotchy skin rash (livedo reticularis) on the arms and legs, slightly tender muscles, and sluggish tendon reflexes – a sign of a possibly underactive thyroid.
Blood tests showed positive anti-nuclear and anti-thyroid antibiotics and moderately positive anticardiolipin antibodies (aCL).
A possible diagnosis of lupus was made – subsequently changed to Sjogrens syndrome (dry eyes, dry mouth, aches and pains), together with underactive thyroid and probable Hughes syndrome.
What is this patient teaching us?
For a lupus doctor, a fairly common set of problems – Sjogrens syndrome (masquerading as ‘fibromyalgia’), hypothyroidism (sluggish metabolism and sluggish reflexes) and Hughes syndrome (features including DVTs, mini stroke, livedo and positive antibodies). Treatment with Plaquenil and baby aspirin. Thyroid replacement.
And yet so often missed. A common medical triad, but each with symptoms which have, it might appear, few obvious diagnostic clues.
The very first lesson in medicine is ‘listen to the patient’ – and in this patient’s case, the bigger picture came with the family history.
“Anything similar in your family history?”
Mother – low thyroid
Aunt – low thyroid
Mother, aunt, three sisters – migraine
One sister, one aunt – multiple sclerosis
One cousin – lupus and epilepsy
Two cousins – DVT
Five female close relatives – recurrent pregnancy loss
At the Patients’ Day this week, the question was once again asked – is this a genetic disease?
Again, the answer seems to be – possibly. But in any genetic study, the right questions need to be asked. Not ‘anyone with thrombosis or pregnancy loss in your family’ – but … MS, migraine, thyroid, epilepsy, balance problems, memory loss, infertility, heart valve disease, low platelets – and even, as the ripples of Hughes syndrome spread – more. Only in this detailed way will we realise the full clinical implications of this syndrome.
GP who does not agree with Prof Hughes.
do you think i may have hughes syndrome?
Been to see Prof Khamashta...
