I receive daily emails regarding Hughes Syndrome.
This week, one example from Kazakhstan: “Dear Dr Hughes…since the number of patients with Hughes Syndrome in Kazakhstan is big, some of them are just weird.” The word is spreading.
In the UK a new initiative to help spread information about Hughes syndrome has come from Lynn Faulds-Wood, (whom many of you will know from her BBC TV programme “Watchdog”) and Mary Foord-Brown (a patient). Mary sends me (almost daily) headlines from newspapers which are possibly relevant to Hughes syndrome:
“Pregnant teenager and her unborn baby killed by a clot”
“The cause of your migraine revealed”
“Scientists identify cause of multiple miscarriages for the first time”
“Doctors blame students almost fatal brain blood clot on the contraceptive pill”
“These women almost died from heart attacks but they were all in their 30s and low risk”
“Hillary Clinton’s doctor gives her clean bill of health after 2012 concussion but says she is still on blood thinners for a clot in her head and takes thyroid pills every day”.
Before this month’s “Patient of the Month” I will mention two medical conferences – one coming soon and one held a few weeks ago in Leipzig, Germany.
Firstly, Dr Paula Alba, Professor of Medicine in Argentina and organiser of Argentina’s national Rheumatology meeting, has planned a plenary lecture entitled “The Graham Hughes Lecture”. She invited me to give a short video presentation to open the meeting – twelve minutes. What do I concentrate on? In the event, I chose four topics which I felt needed focussing on by young research fellows. These were – the study of seizures in MS, the study of younger women with angina, the assessment of the risk of bone fracture, and (of great importance to me) the study of so-called “seronegative arthritis”.
The second conference is, I believe, one of the most important in modern medicine’s calendar. The International Conference of Autoimmunity, conceived and organised by a good friend, Yehuda Shoenfeld. This meeting is unfailingly stimulating – its 1000 presentations, posters and abstracts covering the whole of autoimmunity, from lupus to thyroid; from silicone to bacteria; from coeliac to autism. This varied programme genuinely stimulates the brain cells.
Patient of the Month
A Jigsaw Puzzle
The Autoimmune Conference highlighted what we all suspect – that there is quite an overlap between many of these diseases. In previous blogs, I have often talked about “the big three” – Hughes syndrome, thyroid problems and Sjogren’s syndrome. This month my “Patient of the Month” illustrates how complex the links can be.
Miss C.R., a 36-year-old computer expert was referred by a colleague in Cambridge for a second opinion regarding her many problems. She had suffered a small number of TIAs (transient ischemic attacks/mini strokes). She also had problems with cardiac rhythm, low blood pressure, food intolerance, and joint problems including a dislocated hip. Investigations in Cambridge had found positive anticardiolipin antibodies and positive anti-thyroid antibodies. Her past history was long. As a schoolgirl she had suffered frequent fainting attacks. She had also suffered from a number of joint dislocations and was found to be ‘double jointed’. At the age of 18 she suffered from a prolonged attack of glandular fever, which left her with ongoing fatigue and aches and pains labelled as fibromyalgia – a diagnosis later changed to Sjogren’s. In her 20s she suffered from frequent headaches. She was investigated for possible coeliac disease and felt better on a gluten free diet, and so on….
To cut a long story short, I will summarise and try to piece together some of the pieces of the jigsaw.
1. She was ‘double jointed’ – and found to have a condition called E-D (Ehlers Danlos syndrome)
2. It is now recognised that some E-D patients suffer from “autonomic” nerve problems – leading, for example, to drops in blood pressure on standing (e.g. fainting in school)
3. In its extreme form it is known as POTS (Postural Orthostatic Tachycardia Syndrome)
4. We have recently reported a link between some cases of Hughes syndrome and POTS (1)
5. This patient has a number of other possible autoimmune features –Sjogren’s, gluten sensitivity, thyroid
6. Often these autoimmune features are triggered by a glandular fever viral illness in the teens
Highly complex – but of significance for our patient? Well, control of what was found to be an underactive thyroid, a continuation of her gluten free diet, and treatment with quinine (Plaquenil) for the Sjogren’s, all helped. And, very significantly, warfarin anticoagulation for the worrying TIA’s, brought about not only improvement in the Hughes syndrome problems, but interestingly, in some of the POTS features.
It teaches us that, given persistence, even the most complex of medical illnesses can be improved.
References: 1. Hughes G.R.V (30 years on)
Professor Graham R V Hughes MD FRCP