Professor Graham Hughes' December blog

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)

[MaryF Administrator]

Yes - I particularly like his talk about the identical twins one who has always tested positive and the other negative, but both have fully blown APS!

Mary F x

[77tiger05]

Thank you Dr. Hughes, such interesting subject, and so true. I live in the USA and still have trouble with some doctors who refuse to believe there even is APS!!!!!

[Hidden]

I am such a lucky person that I can understand English, and after Warfarin read again, and that i came across You and your books and Hughes Syndrome Foundation and of course Kate Hindle. And I live in Stockholm. Thank you Dr Hughes.

[SueLovett]

Thank you Prof. Hughes.

It is interesting that you mentioned blood tests for diagnosis of Lupus. The illness was discussed on the Jeremy Vine show last Monday. The GP Sarah Jarvis was asked about the illness and she said it was difficult to diagnose because there was 'no blood test' to prove it and that the symptoms were similar to lots of other illness'. Hughes Syndrome was not mentioned despite 30% of Lupus sufferers presenting with it!

Perhaps GP's need to be informed that it is characterised to antibodies to DNA! I am beginning to despair over the lack of understanding/knowledge of the people we put our trust in.

I was interested to note the comments about vaccination. I have been long been concerned over the diseases presenting in animals following vaccination. These range from epilepsy, skin disorders, behavioural changes and cancers. It is thought that the use of 'aluminium and mercury (in some cases)' have contributed to this.

In America many animals are vaccinated in their hind legs or tails so as to make amputation possible as cancer is known to occur at the injection site. It has long been evident that flu vaccines given to horses causes respiritory problems and allergies.

Alarming isn't it?

[anniesensi in reply to SueLovett]

Hi Sue,

Yes, it is alarming.

I wasn't sure whether or not to have my flu jab this year. It probably was a good idea, but one day a district nurse came to the house as I was "on her list". I had the jab - and, though it may not be in any way connected, and I would not to influence anybody's decision, I certainly suffered a worsening of my conditions following the vaccination. Not immediately, but perhaps after a week.

[anniesensi]

Thank you Prof. Hughes for your blogs. As always, informative, non alarmist, and providing plenty of 'food for thought'.

I am recently diagnosed with APS and "Lupus Like Syndrome" in addition to severe dystonia and Pernicious anaemia. I have had Multiple Sclerosis for nine years.

What can we do as patients to raise awareness? Put it down to my new found spontaneity following stroke, or the overwhelming frustration with being ill - but give me a platform and I'll shout from it until my lungs give out!

It's difficult to know what to do... I find myself frustrated that all it seems I can be with this disease is to be reactive - I want to be pro-active... Until reading your blog I hadn't considered that we, as patients can do something to make a difference. I just don't know how - but give me a roof top and I will make it my mission to get up onto it!

[bernieembleton]

Not a truer word said. I have to stand my ground on many occasions, and always dread if i am admitted to hospital. He is a wonderful person. There still needs much awareness days in the country as so many hospitals and GP surgerys lack the knolwedge.

[bernieembleton in reply to bernieembleton]

Ps, I am sero-negative diagnosed by Prof Hughes in 2005, but my cousin in Australia was diagnosed in 2012 with APS, after a DVT. She is the daughter of aunt, who was a sister to my father. Their mother ( my grandmother) suffered with Lupus and her mother ( my great grandmother), lost a foot due to circulation problems? did she have APS. May the good work and research continue.

[gemma2012]

Thank you Dr Hughes and your team for all the hard work over the years. Gemma 2012

[kimmi9]

i`m afraid that i know little about APS as the heamatologist was explaining it to me may as well have been talking chinese!! prof hughes i know that you have done so much research and we have you to thank for the diagnosis can you answer one question for me?, is this autoimmune disease proggresive ?

[Danimgw]

Dr Hughes, thank you for everything you've done. Me and other are trying to grow as much awareness as we can.

Thanks again. Dani