10 January 2019 by Professor Graham R V Hughes MD FRCP
The year 2018 ended with a whimper – mild and grey. No snow in London thank goodness. For me the medical highlight of the month (and the year) was the awarding of The Sheikh Hamdan Bin Rashid al Maktoum award for medical services – an international medical prize awarded by the Dubai Royal family every two years – for me an immense honour. The prize was presented by Sheikh Hamdan in an impressive ceremony in Dubai.
It was awarded for the description of Hughes syndrome – “one of the two most important disorders discovered in the late 20thcentury” according to his Highness.
You can imagine how touched I was to be awarded this truly international honour.
Patient of the Month
“Trouble with Tests”
Miss J.P, a 35 year old secretary, had an appointment to see her GP. Her history was one of repeated headaches, ‘funny turns’, and balance problems. These had been present for a decade or more, but had become more prominent recently.
The G.P. didn’t make a diagnosis, but did refer Miss J.P to a neurologist. The neurologist arranged an immediate brain MRI. This was at first passed as normal, but the neurologist and radiologist both pointed out that several small ‘dots’ on the MRI might be more than expected in a 35 year old.
The patient’s history revealed some features which, together suggested a blood test for Hughes syndrome. These included a positive family history (Hashimotos thyroid in her mother), and a past history of a probable DVT at the age of 20 when she was put on the ‘pill’ for gynaecological problems. In addition, she had once been examined when a blood test showed a slightly low (90.000) blood platelet count.
The neurologist ordered a blood test for Hughes syndrome (antiphospholipid antibodies/aPL) – result positive – middle range.
Sadly, the patient’s history takes a downward turn. She forgot to go to the neurologist’s following clinic. In fact memory problems had been Miss J.P’s great concern, but she had avoided mentioning it.
Six months later, she returned to the GP having clearly suffered a ‘TIA’ (mini-stroke). The GP checked the previous notes. Interestingly, the positive aPL test was ruled out because a “confirmatory aPL test 12 weeks apart” had not been done.
What is this patient teaching us?
Hughes syndrome, like other illnesses such as lupus have internationally agreed “classification criteria” – useful for disease classification, but NOT for diagnosis. One such criteria concerns aPL testing. Early observations of aPL tests found that certain infections (e.g. flu) could result in a temporary positive aPL test. Hence the “repeat in 12 weeks” edict.
All well and good, but Miss J.P case highlights the concerns.
Clearly, Miss J.P has Hughes syndrome – migraine, DVT, low platelets, family history of autoimmune disease (and most certainly, the worsening memory loss) – and to cap it all, a positive aPL. Consider urgent treatment in view of the ‘mini-stroke’.
In the event, all ended well. Miss J.P was re-united with her neurologist, anti-coagulant treatment started, and a delighted patient now free of memory and balance problems. And a possible stroke prevented!
My good friend Imad Uthman, head of the Lupus clinic at The American Hospital in Beirut pointed out the economic costs to a patient advised to come back for re-testing in 12 weeks. “… it remains to be seen whether the test costs might partially explain the very small percentage of patients who did undergo follow up confirmatory test.” (LUPUS 2015)
PROFESSOR GRAHAM R V HUGHES MD FRCP
Head of The London Lupus Centre
London Bridge Hospital