Rheumatology Case Study

We are very fortunate to have Professor Graham Hughes from the London Lupus Centre contributing to InnovAiT. He agreed for us to share his blog with our readers. Here is the first discussing a rare rheumatology case. Although we may not see many patients follow this same path, it is an opportunity to remember to think outside the box, and if something doesn’t seem quite right, to discuss with colleagues.


Case Study

EJ, an American physician in her forties, decided to come over to London for a second opinion at the London Lupus Centre.  She had been diagnosed in her home city of Boston as having Hughes Syndrome/Anti Phospholipid Syndrome (APS).

Her previous history was very significant.  In her teens, she had suffered attacks of fainting – especially in school assemblies.  She had also suffered from frequent headaches, as well as one seizure at the age of 15.  Investigations were initially non-diagnostic, though one brain scan (EEG) did suggest mild temporal lobe epilepsy.  She had also suffered a variety of joint pains, put down to her “double-jointedness”.

Despite all this, she succeeded at school and college, and graduated in medicine in her home town, Boston.

In her mid-30’s, however, she suffered what she described as a ‘perfect storm’.  Possibly following a ‘virus infection’, she became extremely unwell, with cough, chest pains, leg thrombosis, severe headache and T.I.A’s.  Over the course of 3-4 days, she became unconscious and was treated in the Intensive Care Unit at Boston City Hospital.

At this time, blood tests revealed a low platelet count and strongly positive antiphospholipid antibody tests.

Treatment in ITU included antibiotics, anticoagulants, platelet transfusions, as well as intravenous immunoglobulins and plasma exchange.

She survived and slowly returned to medical life.  Her medication was gradually reduced to warfarin.

However, for the past 3-4 years, she has continued to suffer occasional migraine headaches, as well as very unsettling ‘temporal lobe’ attacks, including episodes of ‘absences’ and ‘déjà vu’.  Fortunately these didn’t interrupt her career as a physician.

She had family in London and decided to combine a family visit with a ‘second opinion’.

Clinically she was doing reasonably well.  The diagnosis of Hughes Syndrome was confirmed and there was no evidence of lupus.  Her medication was fairly simple –anticoagulation with warfarin. Perhaps surprisingly, there was no medicine being taken for the temporal lobe symptoms.

But there was one striking anomaly.  Her INR readings (‘blood thickness’) were surprisingly low – printed out computer style (not the little yellow notebooks we know and love in the U.K.)…….3.1…..3.4…..2.9…..2.9…..3.2…..and so on.

Questioned about this later, EJ admitted that she had been concerned about the risks of bleeding (especially brain bleeds) associated with a higher INR.

This story has a happy – and interesting – outcome.  She returned to Boston, slightly raising the warfarin dosage, and with the added help of a self-testing INR machine.  We keep in touch. She is stable with an INR around 3.8 – 4. And interestingly, the headaches and ‘temporal lobe seizures’ have disappeared.

What is this patient teaching us?

At least 4 lessons:

  • Possible association with ‘POTS’.  

Since we reported a series of Hughes Syndrome patients with ‘autonomic nerve problems, including POTS (paroxysmal orthostatic tachycardia syndrome) – or more simply fast heart-rate and fainting on standing up.

We are also beginning to see more cases with the combination.  To further complicate the picture, a small number of these patients have a tendency to ‘hypermobility’ or double-jointedness.  More on this in a future blog!

  • ‘Catastrophic APS’

Dr EJ had suffered a life-threatening episode in which many organs ‘closed down’.  The death rate is up to 50%. In EJ’s case, recovery was complete, probably because of the quality of the intensive care treatment in Boston.

Because the condition is so rare, guidance regarding the best treatment is limited.  To overcome this, my colleague, Professor Ricard Cevera in Barcelona has introduced a central registry, aiming to pool international data – an outstanding contribution to our syndrome.

  • Epilepsy

In the 35 years since the description of APS, epilepsy has become one of the big stories of the syndrome.  Although the tendency to seizures was included in the original descriptions, recent reviews have reported that up to 1 in 5 cases of ‘idiopathic’ (no known cause) teenage epilepsy cases are aPL positive.

And not just ‘seizures’ but a variety of other types of epilepsy – notably temporal lobe epilepsy, as in Dr Elizabeth’s case.

And very significantly, the epilepsy can (and often does) respond to anticoagulation.  Again if evidence were needed of the importance of brain features in Hughes Syndrome.

  • Warfarin treatment

How common is the finding of an inadequate warfarin dose (for example, with an INR under 3), the clear reason for apparent treatment failure in Hughes Syndrome?

Such an important lesson!



Drug Monitoring – Primary and Secondary Care Interface

This month’s Clinical Scenario on the RCGP forum is about drug monitoring. It is a really interesting scenario with lots of discussion points. In a time of trying to improve our resilience, it’s cases like this which rightly or wrongly, make me worry. If a complaint came through – what would you do? Do you have a clinical governance process in your practice to review cases such as this? See what you think….

Drug Monitoring
A patient of yours is seen in the rheumatology clinic and diagnosed with rheumatoid arthritis. The consultant initiates methotrexate treatment and organises baseline monitoring blood tests. When checking patient blood results after morning surgery one day, you discover that this patient’s white cell count is 2.9 x109/L. You review the patient’s notes and see that the rheumatology consultant prescribed the methotrexate, requested the blood test and copied you in to the results for information. Therefore you do not act on the result.
Two weeks later you receive an out-of-hours report stating that the patient was admitted overnight with a multi-lobar pneumonia. You telephone the rheumatology clinic to discuss the case and discover that the consultant has been on annual leave for 2 weeks and unfortunately the initial blood results were not acted upon. The patient required hospital admission, which led to financial difficulties for the patient as he was self-employed. When you next see the patient in your surgery, he is very angry with you, asking why you did not contact him about the abnormal blood test. The patient is keen to highlight that the correct advice from you could have prevented his illness.
Suggested points for discussion


  • How might you address the patient’s concerns?
  • How would you discuss this case with the rheumatology consultant?
  • How might you raise your concerns outside the practice to try and prevent this situation from occurring again?


Link to RCGP Forums: InnovAiT Clinical Scenarios course within the OLE:
Link to latest (June 2017) forum discussion within the OLE:

Career + Parenting = Guilt

I remember my mother telling me that being a parent involves a lot of guilt, whether it’s not breast feeding for long enough (if at all), not going to the right groups, or, as they get older, not going on such wonderful holidays as other children. Well I can add to all of that. The guilt of also having a career.
I read one of the popular parenting books a few years ago and within the first couple of chapters it became clear that the author felt very strongly that children shouldn’t be in childcare before the age of 4. Huge waves of guilt ensued. My eldest then was only 3 and already I had completely failed him?!
I was ambitious throughout school and university and enjoyed doing the extra bits and pieces where I could. I started my VTS and went on to have 3 children in quick succession. Suddenly I realised I didn’t have the time (or energy) to be quite so keen. I welcomed into my life this new world of Guilt and felt attacked by it on all sides. I was now unable to do those extra audits, CPD sessions or organising (let alone attending) the social nights out.
There was the heavy guilt of dropping the children at nursery at crazy o’clock knowing that they would probably be the last ones to be collected at the end of the day. There was also the mad dash to get there before nursery closed – an extra dollop of guilt towards work colleagues who were still there as I rushed off.
Don’t get me wrong; I can clearly remember the joy of eating my lunch in the canteen undisturbed when I went back to work after number one. There is also some freedom in having another purpose to who I am, earning my own money and being able to walk around unattached to an infant – but then there is the guilt for feeling like that too.
I have found that the children starting school has helped with the guilt slightly.  It isn’t my fault that they have to be at school – I have the law to support me here, (as I have explained to the children vociferously). Although some other mothers have scuppered this by becoming teaching assistants at the school, so even this small bit of support waivers. ‘Mummy, why can’t you be a teacher?’ Well, darling, hmm…..during the summer holidays I think they may have a point.
But this is exactly where being a locum GP can come into its own – due to one word – flexibility. I can fit work around life, not the other way round. When at work, I work hard, I do my best for the patients, I keep up to date, but if one week I want to go to sports day – I can, without the guilt of asking colleagues to swap. Most days, I can start my sessions after school drop off and finish so that I can be back at the school gates at pick up. This has really helped with another portion of guilt – this time towards my husband.  As he works full time too, expecting him to fit in school runs takes a toll on him just as much as me.
As the children get older, I fear the guilt doesn’t stop. The days of tearful nursery drop offs (me mainly) may be gone, but I am sure there will be lots of new ways in which I can let my children down, and never be as committed or quite as involved as I aspire to be at work. I am told the feeling of never doing anything 100% doesn’t leave, but I hope I am getting better at managing it.
Currently I am having a dilemma whether to go to a meeting which I really ought to attend or to make it to collect my children on time from school….probably best to stop writing now so I can let all that guilt set in for whichever I choose not to do.
This article was first published on Networklocum.com

Catch Up Treats

In case you haven’t had a chance to look inside your Great Green Magazine from last month, here are some sneaky treats.

There is a helpful article outlining the essential info about Postmenopausal bleeding and Endometrial Cancer. One of my learning points was that any significant bleeding change in a woman over 40, should also be considered at a similar risk for referral, alongside other risk factors such as obesity or PCOS. I also hadn’t appreciated the increased risk from tamoxifen use and it was useful to read about strategies for prevention of endometrial cancer.

The next article is on Testicular cancer with a really simple, handy guide for how to differentiate the types of scrotal swellings. Did you know that being taller is a risk factor for testicular cancer?

If you are starting to prepare for your AKT it would be worth reading the short summary of where to begin by Virginia Head who is an ST3.

It’s that time of year again when antibiotic requests are ever present – unless that is, you have a very well-trained patient group! I have tried hard to search through the evidence base that’s out there so I can confidently justify why I am not issuing them. We have had several great AKT questions on this subject in InnovAiT. I also came across this summary table of infection guidance for primary care, endorsed by the RCGP, which includes details of clinical criteria. Having your local CCG guidance to hand is also helpful.

As a trainee it can be tricky if the GPs in your practice have different prescribing habits. However, it can be really constructive to discuss these with your trainer so that you feel comfortable in what you are prescribing.




Contraception and CSA Preparation Survey

I get slightly muddled about which type of progesterone is safer for women. Perhaps selecting the cocp that I’m most familiar with is ok for those younger, lower risk women. But once the patient’s age is increased, being able to take account of this in choice of oral contraceptive could be more crucial.
The article by Doctors Carslaw and Cosh in the August edition of InnovAiT, explains this really well with a useful table for reference as well as other contraceptive considerations in the older woman.
Also in this August edition there is a useful article all about the contraceptive implant. If you are preparing for CSA it is great to feel slick with all the information that a patient may ask to hand. This will be a great straightforward resource for you.
If you are just starting to think about the CSA it would definitely be worth looking at the survey and findings by a group of ST2s in Northamptonshire. This is available OnlineFirst and is all about the best way to prepare for the CSA. There were some really interesting findings – for example preparing for more than 4 months was associated with a 6 times higher failure rate!

All Work and No Play

I thought I sort of understood fibromyalgia. Well, as much as was realistic to for a condition which has no diagnostic test, no definite clinical progression and that many people are not even convinced has a pathophysiological cause. But then I met a young patient who did not have a diagnosis of any sort and looked on the surface as being very well. However, she was increasingly disabled with pain, her mood becoming lower as well as having persistent abdominal symptoms. When it was my place to broach the subject of Fibromyalgia it suddenly all felt a lot less clear in my mind. Dr Rachel Imrie’s article which is now available OnlineFirst, gives a brilliant summary of the condition and what our current understanding is and discusses the vital ways in which a GP can offer support.

If you haven’t already read it in the OnlineFirst, June’s issue is filled with all of the brilliant resilience and burnout articles I talked about in last week’s blog, as well as a truly moving article written by Dr Chris Manning. He talks very openly about his own experiences and questions the history of medicine alongside current understanding as to how we now find ourselves so vulnerable.

One of my favourite quotes this month is ‘Sustained stress makes us more dull-witted and unfriendly’ – which I read as an evidence based, high brow version of ‘All work and no play makes the GP dull and grumpy’. I have heard or read many discussions amongst GPs as to how best ‘switch off’ from work and we always have a prepared answer for interviews as to how we recognise and manage stress in ourselves but how often do we actually put it into practice? I think I managed it a little better when I first finished medical school, but now with all the other life factors (for me, mainly children) it is genuinely hard to find the time. I have taken some nuggets from these fantastic articles to implement, especially to ‘Take Back Control‘, I hope you can find some which work for you too. Let me know @rcgp_innovait