Rain, rain, rain!
The wettest year ever in the UK. Monica and I drove to Aberystwyth in distant west Wales to the funeral of my oldest friend John Hefin - a Welsh BBC producer of genius. This was the weekend when parts of north Wales flooded. The rain was incessant. End of the world weather. But not just in Wales - Scotland, the west of England, Cumbria, Yorkshire, Gloucestershire - floods everywhere.
December - a month to look back on the year: the Olympics (when the rain paused for two weeks), the Queen's Jubilee - a triumph.
And for us, a busy year of lectures, GP meetings and patients' meetings.
Early in December, the Times of London thundered on the tragedy of stillbirth....... "every day as many as three babies are stillborn who could have lived".
What we know, and our patients with Hughes syndrome know, is that the tragedy of stillbirth - late pregnancy loss - can be a manifestation of Hughes syndrome - indeed a recent report from an international collaborative research group, presented at the American College of Rheumatology meeting in November 2012, reported that 20% - 1 in 5 - of all cases of stillbirth were associated with antiphospholipid positive tests (aPL) - a preventable tragedy.
Come on! Charities such as ours - The Hughes Syndrome Foundation (hughes-syndrome.org) should be shouting out from the rooftops - many cases of stillbirth are predictable - and preventable!
The group of diseases known as "autoimmune diseases" or "connective tissue diseases" are well recognised, and clinically distinguished from each other by certain clinical and laboratory features. Lupus, for example, is characterised by antibodies to DNA, Sjogrens by 'anti-Ro', myositis by ‘anti-Jo-1’ (and other markers) and scleroderma by ‘anti-Scl-70’. While these various antibodies are regarded as important diagnostic pointers, sometimes there are cases where the pattern doesn't fit.
Here is one such example:
Case of the month
"Something doesn't fit"
Mrs E.L. aged 35 was referred for a second opinion. The history was odd. She had been perfectly well until one year ago when the symptoms of aches and pains, fatigue and memory problems began. She had to give up her job and was seriously concerned about Alzheimers. She had a family history of autoimmune disease, including a sister with Hashimoto's (autoimmune thyroid) disease and a father who died of lupus. All her investigations were negative apart from an ANA of 1 in 160. Antiphospholipid testing was negative. Thyroid tests normal. Her physician suspected Sjogrens (she had a dry tear test) and prescribed Plaquenil. There was minimal improvement in the fatigue.
Sjogrens? Sero-negative APS? ANA+. All other tests negative. What's going on?
Her allergy history was strong, including a bad (three week) reaction to flu vaccine.
One possible clue came almost by accident. While discussing allergies and Sjogrens, I found myself mentioning silicone breast implants.
There was a pause.
It turned out that Mrs E.L. had had bilateral silicone breast implants fitted just two years ago. The symptoms had definitely not been present before the implants.
What is this patient teaching us?
Could the silicone implants have been a trigger for the present illness? Possibly. One of the lessons of modern medicine is that certain substances (aluminium, for example, used in a number of vaccines) can act as an "adjuvant" - a 'kicker-up' of the immune response. Silica is known to be one such adjuvant.
Professor Yehuda Shoenfeld recently edited a special issue of the international journal LUPUS on "ASIA" - autoimmune syndromes induced by adjuvants. * In his outstanding series of studies, he revisited some examples - including the possible role of silica in some cases of autoimmune diseases.
Although the subject has become something of a saga, with lawyers and other interested groups all adding their pennyworth, a number of lessons have been learnt.
Firstly, there may be some individuals more at risk than others. Our patient had a family history of autoimmune disease and a strong history of 'allergies'.
Secondly, the syndromes often seen following silicone exposure are not necessarily 'classical'. Thus they don't conform to the committee-produced 'criteria' for lupus, or for scleroderma - or even Sjogrens.
In our patient, the symptoms (especially the memory problems) are severe. Would removal of the implants at this stage (two years) help? Again, possibly. Although there has been no evidence of rupture, we now know that low grade leakage of silicone occurs to the lymph nodes.
Perhaps, one day, 'staging' of the lymph nodes for evidence of silicone might prove feasible.
* Shoenfeld Y & Agmon-Levin N. (2012) "ASIA - Autoimmune Syndrome induced by adjuvants" LUPUS 21 (2) (Special Issue)
Professor Graham Hughes' April 2013 blog
