- July 2012
Another record! April, May, June wettest ever! And even July – at least for most of July.
However, this week the sun has come out as we prepare for the Olympics here in London.
July, for us, is always ‘Ten Topics’ month. Each year (for the past 26 years) we hold a two day postgraduate meeting here in London. This meeting, limited to 200 doctors is immensely popular – so much so that satellite ‘Ten Topics’ meetings are now held in Barcelona, Rome, Singapore (rotating through the Far East), Buenos Aires, Nice and Beirut.
As always, the meeting covers a wide range of topics, but with particular emphasis on lupus and Hughes syndrome. But there are always interesting ‘other topics’ – including, this year, ‘The world’s strongest man’ (and muscle disease), ‘the powerful placebo’, and drug testing for the Olympics.
And, as always, the annual session ‘Nightmare on Lambeth Palace Road’ – a session reviewing ‘impossible cases’ organised by my co-organiser Professor David D’Cruz - was a highlight.
One important presentation was by Professor Munther Khamashta, my other co-organiser, who reviewed the topic of ‘sero-negative APS’ – or, in plain English, when the patient clearly has Hughes syndrome, but the tests are negative.
This month’s case of the month returns to this important topic.
Case of the Month
Success! Some months ago I saw a patient with features of Hughes syndrome, low thyroid, ‘fibromyalgia’ and dietary problems – possibly mild celiac disease. The Hughes syndrome features included migraine, possible TIAs, previous DVT, three miscarriages, and a couple of previous low platelet counts.
Adding to the suspicion of a diagnosis of Hughes syndrome was the strong family history, including close relatives with migraine, rheumatoid, thyroid disease and multiple sclerosis – all with an ‘autoimmune disease’ flavour.
But her antiphospholipid tests (anticardiolipin and lupus anticoagulant) were negative – repeatedly.
Partly because of this, and because of the broad spectrum of symptoms (aches, pains, fatigue, ‘fibromyalgia’, ‘slowing down’ mentally – and so on), sadly some of her doctors were doubtful as to whether some of it was real. Fortunately, her new GP – a young woman doctor new to the practice and who had herself suffered three miscarriages, put two and two together and referred her to our clinic.
Four prongs of treatment: Plaquenil, thyroxine and gluten-restricted diet and anticoagulation (first aspirin, later warfarin). A wonderful response. Back to a full and symptom-free existence! A huge success.
What is this patient teaching us?
One of the joys of medicine is the putting together of the clues, having confidence in the diagnosis, and genuine clinical improvement. Yes, there are cases of ‘Nightmare on Lambeth Palace Road’ (the road on which St Thomas’ Hospital sits) but there are also some very positive and satisfying stories.
Firstly, many Hughes syndrome patients do suffer ‘overlaps’ with other autoimmune diseases – in this case thyroid (low thyroid) and Sjogrens syndrome (here masquerading as ‘fibromyalgia’). Correcting the lazy thyroid comes first – so many symptoms can result from this.
The Sjogrens aches and pains (and fatigue) almost always respond to Plaquenil (a quinine-based ‘natural’ medicine). This patient also had ‘food allergy’ symptoms suggestive of possible celiac disease – another autoimmune condition in which blood tests can be notoriously unhelpful. In this patient a trial of gluten restriction (particularly wheat products) in collaboration with our gastroenterologist immediately improved the troublesome bowel symptoms.
But as so often, it was the treatment of ‘sticky blood’ – firstly only partially successful with aspirin, but when the TIAs continued, with warfarin - that the dramatic improvement showed. The headaches, the sluggish mental state, the balance difficulties – gone.
And the second lesson?
This patient’s tests were negative – ‘sero-negative APS’.
However, some six months after her first visit, a third test (not then available to us because of problems in the lab) called the anti-beta2-glycoprotein1 was found to be strongly positive! So our patient, as far as ‘international criteria’ is concerned is ‘sero-positive’. Kosher.
How often do we see this? Professor Khamashta has reviewed a large series of results and finds ‘positive Beta2, but negative aCL and LA’ rare. But despite their rarity such cases do occur. So important in the clinic, especially for the patient with a doubting doctor.
We have to thank the makers of testing kits for being at the vanguard of introducing and standardising ‘newer’ tests for Hughes syndrome – as well as for other autoimmune diseases.