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Hughes syndrome

What are the symptoms?

The increased tendency to form blood clots in individuals with APS may have a devastating effect on any part of the body including the legs, arms, chest, head and a number of 'internal' organs such as the kidney and liver. Commonly, blood clots develop in the veins of the legs (deep vein thrombosis) causing pain and swelling, usually starting in the calf. Clotting in the leg may happen once or several times. Clots may also occur in the lung (pulmonary embolus). Clotting in arteries can result in strokes or heart attacks.

The brain appears to be particularly sensitive to the clotting. In fact, in many patients, headaches precede clotting for many years. Also, individuals may develop slight speech disturbance, suggestive of a mini-stroke or epilepsy. Other forms of brain abnormality include movement disorders such as chorea (St Vitus Dance) and more commonly, fits. Epilepsy in all its forms, from petit mal (absences) through to grand mat (fits), are important features of Hughes syndrome.

Women affected with APS may experience spontaneous pregnancy losses due to complications in the blood supply to the unborn baby in the womb. If clotting occurs in the placenta, the baby's blood supply is cut-off leading to miscarriage, possibly late in pregnancy. Many women with a history of recurrent miscarriages have no other features of APS. In fact, many women may never develop any medical problems outside pregnancy. In some patients, therefore, the only manifestation of APS is recurrent miscarriage. In other women, headaches or speech or visual/neurological disturbances may be the primary feature.

The manifestations of APS are very variable and a number of other clinical features have been described including 'blotchiness' of the skin (livedo reticularis) such as blue knees or purplish vein coloration on the back of the wrists. Another feature is a low platelet count or 'thrombocytopenia.'

APS is an autoimmune syndrome. The function of the immune system is to keep the body healthy by producing antibodies to fight germs and viral infections from the environment. Occasionally, however, certain types of antibodies mistakenly attack the body's own healthy tissues. One such type, Antiphospholipid antibodies, target body fats known as phospholipids. Phospholipids are important 'membranes' in platelets and blood vessels.

Some patients with APS are also affected with Lupus, another disorder of the immune system causing fatigue, rashes, joint pain and in some patient's potentially life-threatening kidney and brain disease. It is a relatively common condition which particularly affects women. Lupus and Antiphospholipid syndrome are related. In both, there is an over-production of antibodies. However, most individuals with APS do not go on to develop more generalised Lupus.

View Background Background  |  How is it diagnosed? View How is it diagnosed?

Medical text written December 2001 by Contact a Family. Approved December 2001 by Dr G Hughes. Last updated March 2006 by Professor G Hughes, Consultant Rheumatologist, London Lupus Centre, London Bridge Hospital, London, UK.

 

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