Hughes syndrome: Antiphospholipid syndrome

Antiphospholipid syndrome (APS), also known as Hughes syndrome, was first described by Dr Graham Hughes in 1983. The features of the clinical picture may include migraine, memory loss, vein and artery thrombosis, multiple sclerosis and recurrent miscarriage. Because one of the main features includes thrombosis (blood clotting), the name 'sticky blood syndrome' has often been used as a shorthand to describe this condition. APS affects individuals from all ethnic backgrounds. Although individuals of all ages may be affected, most show features of APS before forty-five years.

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.

There are two very positive features of recognizing APS. Firstly, that the cause 'sticky blood' can be detected by simple blood tests, and secondly that the disease is treatable.

Most laboratories and clinics use two main tests:

• 'Anticardiolipin' (aCL)
• The somewhat confusingly named 'lupus anticoagulant' which although a more complicated clotting test, is far less reliable.

As these tests give different results, individuals may be offered both tests to confirm a diagnosis of APS. Because antibody levels can fluctuate, and even disappear, the blood tests for APS need to be repeated at least six weeks from the first time of testing to make sure that they are still positive.

A diagnosis of APS depends upon an individual's past medical history, medical examination and the results of specific tests. Although many people have not heard of APS, Professor Hughes predicts that 'sticky blood' will be the most common autoimmune disease of the 21st century, more prevalent than Multiple Sclerosis, Lupus and Rheumatoid Arthritis. The good news, however, is that this condition is treatable and patients show incredible improvement once they are taking the right medication.

Any decision about treatment at a particular time (such as pregnancy) depends upon the individual's previous medical history, as well as laboratory and clinical criteria. Anti-clotting (anticoagulation) treatment is available to prevent the symptoms of APS. This works through the action of thinning the blood. The three drugs most commonly used for this purpose in the treatment of APS are aspirin, warfarin (Coumadin) and heparin. For most patients long term low-dose aspirin (75-100 mg daily) is sufficient. For those with more severe clotting problems, warfarin is mandatory.

Inheritance patterns
None.

Prenatal diagnosis
None available.

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.

Further Online Resources
Medical texts in The Contact a Family Directory are designed to give a short, clear description of specific conditions and rare disorders. More extensive information on this condition can be found on a range of reliable, validated web sites and links to them are included in the CD-ROM version of this Directory. Further information on these resources can be found in our Medical Information on the Internet article.

Hughes Syndrome Foundation
Louise Coote Lupus Unit
Gassiot House
St Thomas' Hospital
London
SE1 7EH
Tel: 020 7188 8217
e-mail: hsf@btconnect.com
Web: http://www.hughes-syndrome.org

The Foundation is a National Registered Charity No. 1089077, established in 2001. It offers a network of support groups, information and education to the medical profession and supports research into the condition. It publishes a newsletter three times a year and has information available, details on request. The Foundation receives over 1,500 enquiries a year.

Group details last updated March 2007.