Sticky Blood-Hughes Syndrome Support
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Professor Graham Hughes' Blog October 2017

BLOG – October 2017

In October, I was a guest speaker in Porto, Portugal. It was at an international immunology meeting, and one of the 2 days was devoted to Hughes syndrome/Antiphospholipid syndrome (APS). The meeting (as on previous occasions in Portugal), was outstanding. I was given the title ‘other’ (the other talks included APS and the brain, APS and pregnancy, APS and the kidney, treatment of APS – and – at the end of the session, Professor Hughes on ‘other’.

Actually the title gave me an opportunity to review some of the common, but less highlighted features of Hughes syndrome, including sleep disturbance, seizures, hip pain, infertility, abdominal pain and other important aspects – which leads me to this month’s “other” meeting.

This week included what was, for me, a very important event – the launch of our new charity. Its name is GHIC – The Graham Hughes International Charity for Hughes (antiphospholipid) Syndrome, and its sole aim is global education - specifically the education both of patients and doctors about 2 conditions – Hughes syndrome (APS) and lupus.

We have 50 international colleagues on board, from 38 countries and plan to link up with individual doctors, as well as with existing patient groups in countries around the world.

Our website will include a number of series, including news from international clinics and research centres, news from conferences, new from the journals, regular ‘patient of the month’ blogs, questions and answers, and update reviews.

The international journal LUPUS has kindly allowed have direct patient impact. Please do contact us on hello@ghic.world. I will certainly keep in touch.

Patient of the Month

“Please can you help me”

It is not uncommon for those of us working in lupus and Hughes syndrome clinic to receive calls for help from patients who feel that they are not being diagnosed/treated correctly/listened to. Today’s patient of the month is such an example. Here are some of the quotes from her letter:

“I am being passed around different consultants”

“I have had many miscarriages over the years”

“…bloods came back positive for APS…this test was repeated 12 weeks later and came back mildly positive again”

“8 years ago (now aged 36) I started developing many debilitating symptoms: mottled rash, severe headaches, slurred speech and balance problems”

“I ended up in hospital 3 times and POTS was diagnosed”

One doctor told me “you don’t have the full-blown syndrome”

Told by another “it’s a misconception that antiphospholipid causes any symptoms apart from clots”

Told by another “your antiphospholipid is only pregnancy-related you don’t need aspirin”

“I am now bedridden, using a wheelchair, freezing, mottled rash, headaches, forgetting things, shaking tremors”

“I was diagnosed age 8 with frontal lobe epilepsy”

“I am only 44 and the last ten years of my life have been awful. Please help me”

What is this patient teaching us?

Hughes syndrome (possibly with POTS) sounds very possible with a number of features under the heading ‘other’.

In many ways, this particular history sounds like that in a recent previous blog. But the story is common – I see at least 4 or 5 similar case histories a week.

Let me take the points one at a time:

1. “…passed around different consultants”

Hughes syndrome, possibly more than lupus, is a condition which can affect any organ. So a patient can present, for example, to a migraine clinic, a balance specialist, a cardiologist – and so on.

2. “I have had many miscarriages over the years”

Often there is a long gap between the miscarriages in her early 20s and the onset, say, of balance problems a quarter of a century later.

3. …this test was repeated 12 weeks later and came back mildly positive again”

I think the mantra of “retest 12 weeks later” is more hindrance than help. If it was included in the recommending for APS testing, based on the observation that some acute infections can cause a temporary presence of antiphospholipid antibodies. Two points; firstly, the history is everything in our patient, even a ‘borderline’ result has a meaning. Secondly, in our overburdened NHS, as well as in many poorer countries, a return visit at 12 weeks is not feasible.

4. “..mottled rash, severe headaches, slurred speech and balance problems”

The skin mottling called ‘livedo’ is an important sign in Hughes syndrome and is often associated with neurological features.

5. “I ended up in hospital 3 times and POTS was diagnosed”

Since we reported an association between Hughes syndrome and POTS (an autonomic nerve disorder, commonly causing fainting and a fast heartbeat). We are beginning to see an increasing number of patients with this syndrome. Not surprisingly, given that Hughes syndrome and often affects the nervous function can be affected.

6. “…you don’t have the full-blown syndrome”

Wrong!

7. “…it’s a misconception that antiphospholipid causes any symptoms apart from clots”

Wrong!

8. “…your antiphospholipid is only pregnancy-related you don’t need aspirin”

This patient will almost certainly need stronger anticoagulation than aspirin.

9. “I am now bedridden, using a wheelchair, freezing, mottled rash, headaches, forgetting things, shaking tremors”

And even this patient can improve with correct treatments

10. “I was diagnosed age 8 with frontal lobe epilepsy”

This is an interesting observation. Seizures and various forms of epilepsy are increasingly recognised as part of Hughes syndrome.

11. “Please help me”

I have arranged to see the patient and promise to give a progress report in a future blog.

Professor Graham R V Hughes MD FRCP

Head of The London Lupus Centre

London Bridge Hospital

londonlupuscentre.co.uk/

MaryF

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Infomative as usual - thank you

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Wow great post thanks.

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Wow, thanks so much for this post. Apart from the miscarriages, I could be the above patient, I also didn't know that hip pain and abdominal pain is a Hughes syndrome symptom, check and check again to these symptoms!

I very recently emailed Professor Hughes myself, attaching my medical history and head MRI results to the email. Like this patient above I was desperate for his opinion and expertise regarding my clotting and neurological symptoms. I also explained what I've been suffering with during the last couple of years and he sent me a letter saying that given my medical history and current symptoms, APS is definitely possible even with negative blood tests. I have this letter with me, if only I could actually show it to Professor Hunt or Dr Breen!

I think I might have to go and see Prof Hughes privately, I'm sure the appointment will be worth every penny! Claire

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Highly informative, good information to print and give out to doctors in the “ treatment section”, thanks Mary, Cindy

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I remember that 1st one-being passed from specialist to specialist until i felt i must be hypochondriac!

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A very clever man.

Not only doctors but some other APS sufferers will say you can only get APS if you have had a clotting incident. ..not true. .they all should listen to the man

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Thank you prof Hughes and MaryF!

Many facts in those lines!

Kerstin in Stockholm

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Thank you Dr Hughes! I remain convinced that my hip replacement could have been postponed further or avoided altogether had doctors listened to me as I presented calendar after calendar showing that the higher the INR the lower the hip pain. But no, I was crazy - obviously.

At least here in the States, I believe that insurance company enlightenment might prove to be an influential prod. After all, increasing my INR would have been cheaper for them then a surgery.

And so far, speaking by phone with insurance company nurses has always provided helpful support and advice. Despite their reputation( perhaps deserved) in my case, they have been helpful.

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thank you so much for posting this! I had no idea that my "sleep disturbance and hip pain" my be a part of this thing. on seeing this, I tried to search through the book you all recommended, sticky blood explained, and did not find this there either, although I admit I have not yet had time to read it thoroughly. Is there another guide to all of the symptoms? I really want to have my list of issues ready when I go to my doctor so that she can help me figure out what is related and what to do, but I wouldn't have even included so many things if I hadn't seen it here. so grateful to have found you all!

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Have you had a read through this paper: the-rheumatologist.org/arti...

MaryF

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I always recommend Highways and Byways by dr Hughes . It’s short and very good for appointments.

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Yes, a very good read. MaryF

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Thank you both. I have not had a chance to read everything yet, but am grateful to look at these resources and any others.

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