Hughes Syndrome: A Patient’s Guide

69 Pages·2001·1.613 MB·English

by  Graham Hughes (auth.)

Graham Hughes
Hughes
Syndrome
A Patient's Guide
Springer-Verlag London Ud.
Graham Hughes
St Thomas' Hospital
Lambeth Palace Road
London SEl 7EH
British Library Cataloguing in Publication Data
Hughes, Graham, 1940-
Hughes syndrome: a patient's guide
1. Title
616'.0798
ISBN 978-1-85233-457-4
ISBN 978-1-85233-457-4 ISBN 978-1-4471-0323-3 (eBook)
DOI 10.1007/978-1-4471-0323-3
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© Springer-Verlag London 2001
Originally published by Springer-Verlag London Berlin Heidelberg in 2001
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Foreword
TheAntiphospholipidorHughesSyndromeisnotinventedbut isabiolog
icalaberration.Inmanyways,the description ofasyndrome istrulyasci
entificeffortbecauseitisbasedontheaccrualofdataandorganizingthat
dataintosomethingthatdescribesaneventinalargegroupofpeople.This
canbeadifficulttask,sinceonehastotakescientificdatafrom agroupof
peoplewithdifferentcomplaints.Whilemanysuchsyndromesordiseases
are new and have never been seen before,most have been around for
yearsandarejust nowcomingto lightbecauseofscience.Onecoulddraw
someparallelstothewell-known diseaselupusthatwasoriginallythought
tobequiterareandofwhich littlewasknown.Nowthesamecould besaid
forpeople withtheantiphospholipidsyndromethe subjectofthisbook.
The author of this book, ProfessorGraham Hughes and his colleagues
described something in medicine for the first time. A very important
disease, which affects millions of people around the world, was recog
nized earlyby Dr.Hughes.Hesawsomething differentin both the clinic
andthe laboratoryfor the first time and hewasthe first to callthis condi
tion the Antiphospholipid syndrome. The Antiphospholipid syndrome
affectsthe blood and itsabilityto clot.Thebloodfrom patients with this
illnessclotstoo quicklyandthe consequencesofthis includestrokesand
heart attacks becauseof blood clots that go to placeslike the heart or
brain. Fortunately, this doesnot happen to everyone and the diseaseis
easilytreated with bloodthinners.Theoverall condition iscausedbythe
same kind of antibodies or proteins directed against self; in essencea
classical autoimmune disease.
Nodoubt, it will take many yearsto understand the why, how and what
ofthis new illness,but it must be explained to the people who have it
in clearfashion. My patients askme about this condition all of the time.
Whileaneasyexplanationyou could sayisnot possible,patients deserve
anexplanation becausethey haveto take the medicine,understand the
precautions andthe prognosesandexperiencethe resultsofour therapy
and our goalsconcerning treatment.
Inthistome, Dr.Hughesconsidersyouthe patient. Hehasfollowed Louis
Pasteur's aphorism that "chance favors the prepared mind". Indeed, it
doessincethediscoveryoftheseparticularantibodies allowsusto under
stand acomplex illnessand gain insight into heart disease, stroke and
"hardened arteries". Now you have the opportunity to understand this
unfortunate but interesting biological problem.
Read thisworkto understand antiphospholipiddiseaseandthe problems
of autoimmunity through Dr. Hughes' masterful efforts of description.
Thesearethe diseases of our time that piece by piece provide a better
understanding of our immune systems.
Robert G.Lahita M.D.,Ph.D.
Professorat NewYorkMedical College
SectionChiefRheumatology
SaintVincent's Medical Center
NewYork,N.Y.
Preface
In 1983,we described acondition in which the blood hasaheightened
tendency to clot, anddeveloped ablood testto diagnosethiscondition.
Thecondition, known by itsrather daunting title, the Antiphospholipid
Syndrome (APS) or, by many of my international colleaguesasHughes'
Syndrome,isnow known to becommon.
The clotting can affect any vein or artery in the body, and the clinical
featuresarediverse,varying from migraine, memory lossand strokesto
leg vein thrombosisand lung clots.
Inpregnancy,theclottingcanaffecttheplacenta,resultinginmiscarriage.
Asa physician,there aretwo important messages.Firstly,thecondition
ispotentially preventable (the pregnancy success rate hasincreased in
thesepatientsfrom under 20% to over 70%.) Secondly, a simple blood
test canidentify it.
Forme,thishasbeenthe single mostrewarding discoveryof mymedical
career- adaunting syndrome which cannow bediagnosed andtamed.
Thisbook isdedicated to mycolleaguesworld-wide whohavejoined me
inthisresearcheffort. It isparticularly dedicated to myteaminthelupus
unit at StThomas' Hospital.
January 2001 Graham Hughes
StThomas' Hospital
London
Contents
1. Sticky Blood: the Disease IsCommon 1
2. Main Clinical Features 5
3. Clotting inVeins 9
4. Stroke 15
5. Memory lossand"Alzheimers" 18
6. Headaches, MigraineandFits............................ 21
7. The Spinal Cord and"MultipleSclerosis" 24
8. The HeartandArteries ................................. 27
9. Internal Organs 30
10. The"Catastrophic"Antiphospholipid Syndrome .............. 36
11. PregnancyandFetal loss ............................... 38
12. Hughes'Syndromeandlupus 41
13. Treatment 44
14. TheOutlook ......................................... 50
15. What Blood Tests DoWe Use? 52
16. Research 55
17. Background 60
18. FurtherReading andWebsites 63
Sticky Blood: the Disease
Is Common
Introduction
Inthe early1980'swedescribed agroupofclinicalfeatures- asyndrome
- associatedwith "sticky blood" - a tendency for the blood to clot too
easily. Wefound that the tendency wasvery clearly associatedwith the
presenceof ablood protein - aso-called "antibody" which appeared to
enhance this"sticky"tendency.
Thisantibody,socalled "antiphopsholipid antibody" (aterm that will be
explained later) is easily measured, and forms the basis of a standard
blood test.
Theantibody, ifpresent,isariskfactor for thrombosis.While itspresence
does not absolutely mean that an individual will develop a clot, the
chances of this occurring are certainly much greater. The presence of
the antibodyisparticularly importantduring pregnancy,wherethe blood
isslightlystickier.Here,the blood might not reachthe smallest capillaries
inthe placenta,the developing fetus isstarved of circulation and "spon
taneous" abortion results.
Oneof the huge successes of recent medicinehasbeen the recognition
of this syndrome and the fact that treatment can prevent both the
thrombotic complications and the miscarriages. For example,women
withthe syndromewho havehad12ormoremiscarriagesarenow having
successful pregnancies.
This brief introduction to the syndrome is dedicated both to doctors
and patients.
G. Hughes, Hughes Syndrome
© Springer-Verlag London Limited 2001
For the Doctor
Do you havepatients in your practice with recurrent migraine?Or with
memory loss?Orwith recurrent spontaneousabortions?Orwith ahistory
of deep vein thrombosis on starting the oral contraceptive therapy? Or
evensomeonewith anunexpected strokeat the ageof 40?
If so,someof these patients may haveapotentially treatable condition
- "sticky blood" - the antiphospholipid (Hughes') syndrome - a condi
tion whichcanbediagnosedbyasimpleandinexpensiveblood antibody
test.
The presence of antibodies against phospholipids is detected by two
blood tests- anticardiolipin antibodies (aCL) andthe confusingly named
"lupus anticoagulant" (LA) test. Both of these tests are available
throughout the world, and are reasonably well standardised. Perhaps
more important than their role in diagnosisisthe fact that they may be
relevant in prevention.
Togivetwo examples:ithasbeenestimatedthat upto 1in5ofallstrokes
in the under40yearoldsaredue to the syndrome.
YoungStrokes
(Under40)
1in5APS
Fig.1.1
Inobstetrics,upto 25%ofallwomen with 2ormorespontaneousmiscar
riagesor fetal losses haveHughes' syndrome. Both areexampleswhere
a blood test and preventative (prophylactic) treatment, often with as
2
simpleanagent asjunioraspirin,could havehugeclinical andeconomic
implications.
Thereareanumber of known causes of the "sticky blood" clotting ten
dency,but the antiphospholipid syndrome(APS) isuniquelyimportantin
itsfrequency andinitspotentialfor both venousandarterial thrombosis.
It isasurebet that the syndrome isseenin every branch of medicine,
from psychiatryto neurology, from obstetrics to general practice.
Thisisnot araresyndrome,it iscommon,and ispotentially treatable.
Forthe Patient
The range of symptoms which the patient with Hughes' syndrome can
develop isdaunting.
Little wonder, therefore, that many patients go from doctor to doctor
before the diagnosisismade.
In some,the diagnosis isimmediate and dramatic - the leg vein throm
bosis on the oral contraceptive "pill", for example, or the sudden
headacheand speechdisturbance suggestive of anearlystroke.
In others,it canbe difficult - especiallywhere more "subtle" brain clot
ting occurs- the memory loss(andfearof "Alzheirners"),the headaches,
the balancedisturbance,the periodsof"petitmal"orabsences.Inothers,
the problems seemto relatemostly to pregnancy- or pregnancyfailure,
with recurrent pregnancy loss,andeven,insomewomen, with infertility.
The basis of the syndrome isa tendency of the blood to clot sponta
neously.Naturenormally protects the bodyfrom "inappropriate"clotting.
However, in Hughes' syndrome, circulating proteins called antibodies
appear to make the blood far more "sticky" and liable to clot. In an
analogy with the carengine, if the petrol or gasmixture istoo rich,the
engine cokesup,stutters,and ceases to function properly.
Thediseaseistreatable:clearlytreatment demandsoneorother form of
blood-thinning agents.
Obviously, in a disease which affects the blood and the blood vessels,
any organ or the body may be affected.The results(and therefore the
symptoms) can vary enormously. In the brain, for example, the effects
canrangefrom the extreme - astroke,to the more subtle,for example,
earlymemory loss.
3
Perhapsone of the biggest mysteries of the syndrome iswhat triggers
the thrombosis.Indeed, an important question iswhy somany individ
ualscarrying the antibodies don'tappearto thrombose.Maybe someor
many "asymptomatic" carrierswill develop thrombosis in time - but as
yet the syndrome isstill lessthan 20yearsold!
4