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“There
are two major ‘new’ diseases of the late twentieth
century –
AIDS and Hughes Syndrome ..."
Dr. Vilardell, Barcelona.
Below is an overview of Hughes Syndrome which should provide
you with valuable background information.
History
In
1983 Dr Graham Hughes and his team in London described in detail
a condition - often known as “sticky blood”, in
which there was a danger of thrombosis.
This condition – easily diagnosed by simple blood tests,
affects millions of people throughout the world. The good news
is that once diagnosed, the disease can, in most people, be
treated, and further thrombosis (clotting) prevented.
Patients with the
syndrome were at risk, both from vein thrombosis (including
DVT’s), and in some, more dangerous arterial thrombosis,
including a risk of strokes and heart attacks. In women with
the syndrome, the “sticky blood” is unable to
get through the sensitive small blood vessels in the placenta
to the fetus, and there is a risk of miscarriage.
The discovery of
the condition came from careful clinical observation. Whilst
treating patients with a condition called lupus, Dr Hughes
noted that some of his lupus patients had a tendency to blood
clots, to headaches and even strokes and, in pregnancy, to
clotting of the placenta and miscarriage.
 Furthermore,
Dr Hughes recognised that this group of patients could be
distinguished by a specific blood test – the detection
of so-called “antiphospholipid antibody”. He immediately
recognised that the Syndrome could also occur without lupus
– indeed, in the vast majority of patients, there was
no evidence of Lupus, hence the name ‘primary’
antiphospholipid syndrome for these patients.
Dr Hughes gave
the syndrome the name antiphospholipid syndrome (or APS).
In the mid 1990s international colleagues re-named the syndrome
‘Hughes Syndrome’ to honour the doctor who described
it.
The following extract is taken from one of Dr Hughes’
original reports in 1983:
Between 1983 and 1986, Dr Hughes and his team published a
series of reports describing in great clinical detail the
spectrum of the syndrome including migraine, DVT, strokes,
movement disorder, spinal cord lesions, organ thrombosis including
brain, heart, brain, kidney, liver and lung as well as the
occasional abnormalities in blood platelet count, and of course,
the all important tendency to miscarriage.
Primary or secondary?
The antiphospholipid
syndrome was first described as a complication of the disease
‘lupus’. However, Dr Hughes immediately realised
that many cases – indeed probably the vast majority did
NOT have any evidence of lupus. This gave rise
to the term ‘Primary Antiphospholipid Syndrome’
(PAPS).
For those patients where the clotting tendency is secondary
to another disease such as lupus, the condition is often called
‘Secondary Anitphospholipid Syndrome'.
It should be stressed that the majority of patients with ‘Primary’
APS (Hughes Syndrome) do NOT go on to develop
lupus in later life. The inter-relationship between lupus and
APS (Hughes Syndrome) is highlighted in this diagram, taken
from the book ‘Hughes Syndrome: A patients guide', please
see our publications if you want
to order this book.
Catastrophic Antiphospholipid Syndrome
This is the most
feared complication of Hughes Syndrome. Fortunately is it extremely
rare – but when it occurs it is an “all stops out”
medical emergency. The most commonly cited scenario is an individual
with antiphospholipid antibodies (aPL) who appears to be well
– often on no treatment – who suddenly starts to
develop widespread clots. The clots involve any or all of the
vital organs – the lungs, the liver, the adrenals, the
brain. The
triggering factor(s) for this ‘gear-change’ is
unknown, though in a number of patients an infection such
as a virus, sore throat or chest infection seems to start
the process. Another rare cause is the stopping of anticoagulant
treatment in a known aPL patient.
How common is the Syndrome?
In
the world of obstetrics, Hughes Syndrome is now recognised as
the most common treatable cause of recurrent miscarriage.
From the world literature to date, a rough “1 in 5”
rule applies: Hughes Syndrome accounts for approximately:
- 1 in 5 Deep
Vein Thrombosis ('DVTs')
- 1 in 5 young
strokes (under 45)
- 1 in 5 recurrent miscarriages
Add to that the
as-yet unknown number of migraine, Alzheimer’s and Multiple
Sclerosis sufferers who actually have Hughes Syndrome, then
the prevalence figure in the population could be as high as
at least 1% if not more – truly one of the ‘new’
diseases of the late twentieth century.
Related Diseases
Lupus
This is a common ‘autoimmune’ condition affecting
up to 1 in 1000 of the female population. The immune system
is overactive, with the resultant over-production of a large
number of antibodies. In approximately 1 in 5 lupus patients,
these antibodies include antiphospholipid antibodies, with the
resultant problems of thrombosis and miscarriage.
Sjögren’s Syndrome
In many ways, this syndrome which causes dry eyes, dry mouth
and aches and pains, can be regarded as a milder version of
lupus, usually affecting a slightly older age group (50-60
year olds). Again, some people with Sjögren’s Syndrome
product antiphospholipid antibodies and can develop features
of Hughes Syndrome.
Fibromyalgia
Patients with widespread aches and pains are sometimes diagnosed
as having fibromyalgia or ‘M.E.’. Some of these
patients, in fact, may have one of the conditions described
here such as Sjögren’s Syndrome.
Thyroid disease
Abnormalities of the immune system can also affect the thyroid
and it is not uncommon, for example, to find a history of
over-active of even under-active thyroid disease in relatives
of Hughes Syndrome patients.
Other clotting disorders
A number of other clotting (“pro-thrombotic”)
disorders have been described, and clearly, must be considered
when making the diagnosis.
The commonest is
factor V Leiden – a hereditary condition which leads
to vein clots but not artery clots or strokes. Others rarer
conditions include disorders of prothrombin, protein C and
protein S.
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