Hello everyone. I am again in a hospital, #6 in a month and a half. This time we drove 4 hours to get me seen. I have given them my medical records with my
APS dx. I have answered the same questions over and over. They have pumped with so many meds that I can't think straight. Today I fear I will be discharged again with no results. Everyday I feel like I am dying a slow miserable death.
Army, what are you,admitted for, what symptoms, etc do you have?
I came in with chest pains and an unresolved headache with pain behind my left eye with vision disturbances. They are a great hospital however, I still think they are looking at it from a neuro stand point. The doctor said they have seen women with APS that is usually discovered during pregnancy but they don't have any problems thereafter. I didn't either until a month ago! It has been a bad roller coaster ride!
Here are some papers on Sero negativity to show them if it helps. If you are still passing tests but there is a lack of joined up thinking going on, Please direct them to the charity website: hughes-syndrome.org/ and should you be in a negative phase of testing, I have added these in just in case. ard.bmj.com/content/62/12/1...
rheumatology.oxfordjournals...
sciencedirect.com/science/a...
researchgate.net/publicatio...
And recently written for us on this forum by Professor Hughes himself
From Professor Hughes' Sero-negative Hughes syndrome
Introduction
Two important lessons which trainee doctors must learn are ‘listen to the patient’, for he/she is telling you the diagnosis and ‘remember, the tests can let you down’. There is a history of unexpected negative tests in other diseases, including rheumatoid arthritis and lupus.
Rheumatoid arthritis
Early in the 1940s, blood tests such as ‘rheumatoid factor’ were introduced in the diagnosis of rheumatoid arthritis (RA). They proved extremely useful, but little by little, observant physicians (notably the late Professor Verna Wright of Leeds) recognised that a number of patients with widespread inflammatory arthritis had negative RA tests. The concept of ‘sero-negative RA’ – doubted by many doctors at the time – stuck, and indeed became clinically very useful. It allowed the recognition of different important conditions such as psoriatic arthritis, ankylosing arthritis and others.
Lupus
In the mid-1900s, a number of blood tests were developed for lupus, culminating in the description of the anti–DNA test in the late 1960s – the gold standard.
But, again a number of patients with all the clinical features of lupus – including, in some cases, a ‘butterfly’ rash, had negative antibody tests.
The concept of ‘sero-negative’ lupus was floated, often by dermatologists, who saw classical lupus rashes, but with negative lupus tests.
It proved a useful concept, contributing later to the development of newer tests (including the important ‘anti-Ro’ antibody) which proved absolutely invaluable in the
definition of some subsets of lupus which had, for example, less of a tendency to kidney involvement.
Hughes syndrome
In 1983, my team described what we initially called the ‘anti-cardiolipin syndrome’. Cardiolipin belongs to a group of molecules called phospholipids – we could have used other phospholipids as test material, so changed the name to ‘anti-phospholipid syndrome’.
We soon began to see patients in our clinic who had many of the clinical features of Hughes syndrome but in whom the two commonly used tests aCL (the anti-cardiolipin test) and LA (the inappropriately named ‘lupus anticoagulant’) were negative. In many cases, the patients only reached our clinic because they had a relative with the diagnosis, or because they had ‘done their homework’ on the internet.
And, of course, many such patients had remained untreated
So, in 2003, together with my colleague, Professor Munther Khamashta, we published the article entitled ‘Sero-negative anti-phospholipid syndrome’ in the Annals of the Rheumatic Diseases (Dec 2003, vol. 62, p1127).
History repeats itself. As in the cases of ‘sero-negative RA’ and ‘sero-negative lupus’, the concept attracted a lot of debate. One reasonable objection was that the term ‘anti-phospholipid-test negative anti-phospholipid syndrome’ was an oxymoron and made no sense – perhaps ‘sero-negative Hughes syndrome’, based more on clinical criteria, was better.
Reasons for ‘sero-negative’ tests
There are three main possibilities. Firstly that the diagnosis is wrong. Secondly, that the tests had been positive years previously but had now become negative (we do see this occasionally). Thirdly, our current tests don’t provide the whole answer. Over the past decade many laboratories, including our own, have been studying other blood tests for the syndrome. To date, some progress has been made. There are some samples which only appear positive on an exhaustive battery of tests, but these are still a minority.
Professor Munther Khamashta and the team at St Thomas’ hospital are actively involved in this research and Munther has recently updated their observations. (Rodriguez-Garcia JL et al. Annals of the Rheumatic Diseases. 2012. Vol 71. P242-244).
What is our experience so far?
Every week, I see at least half a dozen people who fit the clinical picture of Hughes syndrome, but with negative aPL results. There are sometimes clues such as other positive antibody tests (thyroid or ANA for example) or borderline low platelet counts.
But the proof of the pudding lies in the response to treatment (either aspirin/clopidogrel/heparin or warfarin) once the decision is made to treat.
Of course it can be argued that yes, other diagnoses might sometimes respond similarly, but a good physician can usually differentiate.
But – and it is a very big but – many of our patients do not get swift treatment – or even worse are diagnosed as ‘fibromyalgia’ or migraine or even worse, as ‘nerves’.
Another observation, as in the case of Mrs O.L., is that the patient has finally arrived in our clinic because of a positive family history – leaving the obvious question – how many more cases are there out there?
How many cases are we missing?
The numbers could be huge. Take the following medical scenarios – migraine clinics, women with unexpected still birth, unusual teenage epilepsy, unexplained bone fracture, under 40-year olds with angina and no other obvious risk factors, young strokes, abdominal pain after meals. All of these can be seen in Hughes syndrome – all potentially treatable or preventable if the diagnosis is made.
The future
For these reasons, I believe that the study of sero-negative cases of Hughes syndrome (and the need for newer more sensitive or specific tests) is perhaps THE most important of all the current clinical research projects in this disease.
Further studies
Mass blood screening might prove too expensive for many groups, but questionnaires can still provide some clues. For example, we could consider a detailed family history on all of our patients, before widening the net.
And think of the life-changing health benefits and the cost savings to the country if we could teach the medical world to think of the diagnosis – even when the current tests are less than perfect.
Graham Hughes
The London Lupus Centre
London Bridge Hospital
Please feel better soon, MaryF
Thank you so much for taking the time to share this information! I am ready to get some relief.
Thanks for posting. I have an appointment in the rheumatology clinic in the city tomorrow. I'm taking some of this with me. We will see.
Miscarriage clinic
Thrombophilia clinic
Coote clinic
Can you help take part in a clinical trial?
