Hughes Syndrome

Hughes syndrome (HS) is anautoimmune disease in which

there is an increased risk of clottingto the blood, both in veins andarteries.As blood is needed by everyarea in your body to supply oxygen,HS can affect any organ, notably thebrain, heart, kidney and the skin. Itcan therefore present itself with

numerous symptoms.

Causes of HughessyndromeIt is still not fully understood why somepeople develop HS.As in otherautoimmune conditions such as lupus,there are strong hints of a geneticbackground.There could also be atrigger such as a virus attack. Moreresearch is needed before we can give adefinitive reason for why suchconditions develop in one person andnot another.

Clinical featuresAs I mentioned above there are many,varied symptoms associated with HS.It is unlikely that you will have them alland they can come and go freely.

Blood clottingThese can occur almost anywhere inthe body and can cause some seriousevents such as stroke, heart attack,pulmonary embolism and thrombosis inthe limbs.

The brainLack of oxygen to the brain can cause awide variety of features includingmigraine, epilepsy, memory loss, balanceand co-ordination problems and slurredspeech. Not surprisingly, many sufferersare misdiagnosed with Multiple Sclerosisas it displays similar symptoms.

PregnancyPossibly because of thrombosis in theplacenta, the developing fetus does notreceive the nutrition it requires.This cancause low birth weight babies, pre-eclampsia or, sadly, miscarriage. In manywomen with HS recurrent miscarriage is

the predominant feature. Often thepregnancy loss occurs late and some areeven stillborn – all causing terribledistress.

Other organsClotting in the eye can cause visualdisturbance or loss. In the skin legulcers may develop, and one commontelltale sign is a blotchy skin rash knownas ‘Livedo Reticularis’.

The degree of illness can vary greatlybetween people. Some can suffer frommost of the symptoms highlighted, yetthere are others who never feel ill yetdevelop a clot ‘out of the blue’.

DiagnosisThere are two screening tests for HS:anticardiolipin antibodies (aCL) andlupus anticoagulant (LA).These areuniversally available and can be carriedout at your GP’s surgery (don’t let themtell you otherwise!).

Treatment

General measures include avoidance ofknown risk factors such as smoking andthe oral contraceptive pill.The mainmedical treatment for this condition is

Hughes syndromeanticoagulation. For those who testpositive yet have never presented anyserious thrombotic symptoms, the usualform is low-dose aspirin (75-150mgdaily) or an alternative anti-plateletagent such as PLAVIX).

For those with more severe disease,anticoagulation with warfarin (orheparin during pregnancy) is vital.Asmost readers will know the level ofanticoagulation is guided by a blood testcalled the INR. For most cases ofthrombosis, an INR of 2 is generallysatisfactory. However, for more severeclotting problems, especially strokes andother neurological disorders the INRmay have to be kept at 3 or even 3.5.This has inevitably proven to causemany HS sufferers problems at theirlocal anticoagulation clinic. Manydoctors, who don’t understand thedisease, are wary about keeping the INRhigh due to risk of haemorrhage.However, haemorrhaging is far less likelyat an INR of 3, than clots are at an INRof fewer than 2.

Outcomes and the future

Hughes syndrome is now known as one of the most common autoimmunediseases and is potentially treatable.In obstetrics, for example, successfulpregnancy is now the rule rather thanthe exception.

There is still much we don’t knowabout HS, but as it is becomingincreasingly recognised in the medicalworld, and more and more research isbeing carried out, we will soon hopefullystart to gain a fuller picture.

Hughes SyndromeFoundation

The Foundation was set up three yearsago at St Thomas’ Hospital in London,to provide information and support tosufferers of Hughes syndrome and toincrease awareness of the disease. Ourlong-term aims are to help fund medical

research into this important condition.

PHOTOGRAPH COURTESY OF THE HUGHES SYNDROME FOUNDATION

Dr Graham Hughes, who first described the syndrome

A look at a puzzling condition also known as The AntiPhospholipid Syndrome (APS)

AntiCoagulation Europe 2010