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A guide to Hughes' syndrome

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VOL: 99, ISSUE: 34, PAGE NO: 24

Tina Louise Sheehan, RGN, is clinical nurse specialist lupus and Hughes’ syndrome, Louise Coote Lupus Unit, St. Thomas’ Hospital, London

Hughes’ syndrome, also known as antiphospholipid syndrome (APS), was first recognised in 1983 by Graham Hughes and his team at St Thomas’ Hospital, London. It is also known as ‘sticky blood’. Hughes’ syndrome is an anti-inflammatory autoimmune disorder in which the blood has a tendency to clot too quickly.

The main defining features are thrombosis, pregnancy loss and the presence of antibodies (Cuadrado and Hughes, 2001). It is often seen with systemic lupus erythematosus, another autoimmune disease. However, Dr Hughes and his team also identified primary APS, in which patients have APS but not lupus.

Epidemiology and diagnosis

Hughes’ syndrome can affect both men and women from childhood to old age. However, it is mainly seen in women, which may be related to one of the main symptoms of pregnancy loss. It is estimated that one in five people aged less than 40 years who have experienced a stroke have Hughes’ syndrome.

The classification criteria for Hughes’ syndrome (Box 1) were agreed after the Eighth International Symposium on Antiphospholipid Antibodies in 1998. The criteria are also known as the Sapporo criteria (Wendell et al, 1999).

Neurological symptoms

Neurological events feature prominently in Hughes’ syndrome (Hughes, 2003). The symptoms of these events include stroke, multiple sclerosis, headache and migraine, memory loss, epilepsy, myelopathy and behavioural disorders. Stroke is probably the most common and the most serious event. It is thought that one in five strokes in people aged less than 40 years is caused by Hughes’ syndrome. The strokes can vary from transient ischaemic attacks to multi-infarct dementia. Other clotting disorders do not lead to strokes, so this is what makes Hughes’ syndrome such a serious clotting disorder.

Some patients with multiple sclerosis respond to the treatment given to patients with Hughes’ syndrome and have no further neurological events or deterioration in their abilities. Therefore, this suggests that a small percentage of patients diagnosed with multiple sclerosis could have Hughes’ syndrome.

It seems that headache and migraine are the most common symptoms of Hughes’ syndrome among patients seeking help. There is often a strong family history of headaches or migraine and frequently patients experience headaches when they are teenagers that subsequently disappear for 10-20 years. Sometimes the headaches are associated with visual or speech disturbance or transient ischaemic attacks.

Many patients with Hughes’ syndrome report memory loss as possibly the most important symptom that they experience. Memory loss has a very significant effect on their lives and it is remarkable how much they improve once treatment begins.

Patients of all ages can be affected by seizures and all forms of epilepsy can be seen. However, this is rarely seen among the patients at St Thomas’ Hospital. The seizures sometimes improve if the patient has been prescribed warfarin for another condition, such as thrombosis.

Transverse myelopathy is a rare but well-recognised feature of Hughes’ syndrome and can be associated with optic nerve ischaemia. It can often be treated with anti-coagulation therapy but may also need steroids and immunosuppressants.

A number of patients with frontal lobe ischaemia have been seen but few studies detail this symptom. However, cognitive dysfunction is relatively common, with patients often reporting poor memory and reduced concentration.

Circulatory symptoms

Hughes’ syndrome can affect the heart and any artery (Hughes, 2001; 2000). Lesions can appear on the heart valves and the associated arteries. Evidence of vascular thrombosis is one of the main criteria used to diagnose Hughes’ syndrome and often the first symptom is breathlessness (Box 2). Thrombosis can occur in any organ. This can affect the heart and lead to myocardial infarction.

Hughes’ syndrome can also affect any vein (Hughes, 2000) and cause deep vein thrombosis. As one in 200 people may be affected by Hughes’ syndrome, this should be a major consideration in whether to take long-haul flights (Holden, 2001). It may be beneficial to take aspirin before flying, but this has yet to be researched.

Renal artery thrombosis is another important feature and can lead to hypertension (Hughes, 2001). Data from the Lupus Research Unit suggests that up to a third of Hughes’ syndrome patients with hypertension may also have renal artery stenosis. In some, blood pressure control has improved after receiving anticoagulation therapy or angioplasty (Holden, 2002).

Thrombocytopenia is uncommon but important because it is such an unusual feature and differentiates Hughes’ syndrome from other clotting disorders. The platelet level rarely becomes low enough to cause a problem, but when this occurs the patient is in the unusual position of having a bleeding problem with clotting. The normal platelet count is 150,000/cm2 but many patients have platelet counts of 30,000 to 80,000/cm2 with no ill effects (Hughes, 2000).

Pregnancy and foetal loss

Patients with Hughes’ syndrome may experience foetal loss (loss of pregnancy after 20 weeks). This is rare and it is recommended that any women with recurrent foetal loss should be tested for Hughes’ syndrome. Women can also suffer loss before 20 weeks (spontaneous abortion). In its simplest terms, it is thought that the ‘sticky blood’ is unable to cross the smallest blood vessels in the placenta. This affects the placenta and the embryo/foetus fails to thrive and is aborted.

There have been dramatic improvements in this area and in many cases the success rate for Hughes’ syndrome pregnancies has risen from 20 to 75 per cent. Now that testing for Hughes’ syndrome is gradually becoming more common it is hoped this will prevent many pregnancies from being unsuccessful (Hughes, 2001).

Dermatological symptoms

The only dermatological symptom seen in patients with Hughes’ syndrome is livedo reticularis, a blotchy rash most commonly seen on the knees or the wrists (Hughes, 2000).

Treatment

Patients with antibodies but without a history of clots are prescribed low-dose aspirin (75-100mg) daily. However, some studies show that patients can go on to develop clots later. For this reason the research team at St Thomas’ Hospital are conducting a five-year study comparing aspirin with low-dose warfarin.

Patients with antibodies and a history of clotting should be prescribed warfarin. However, if they have surgery they will be given a low molecular weight heparin instead. Women stop taking warfarin as soon as they become pregnant and self-administer heparin instead. This is because warfarin is toxic to the developing foetus.

Many patients require an INR of three (and sometimes slightly more) to help reduce their symptoms. Some patients can feel the difference within themselves if their INR is too low, such as a return of poor memory or perhaps increased headaches. The main side-effects of the different treatment options for Hughes’ syndrome are shown in Box 2.

Implications for the family

Although the genetic link is not strong, a number of patients have relatives with similar problems. Many research programmes are being conducted around the world and it is hoped that a genetic link may be discovered (Hughes, 2001).

Research and future developments

St Thomas’ Hospital is about to start a research project to teach patients to use their own self-testing machines. It is hoped that this will show a reduced incidence of clotting in these patients and will improve their quality of life. Hopefully, this will lead to fewer fluctuations in symptoms and also less time spent in hospital waiting for blood to be taken and results to be given.

Research at St Thomas’ Hospital into the link between headaches and Hughes’ syndrome has been completed recently. It had previously been thought that patients taking low molecular weight heparin would experience fewer headaches (Cuadrado et al, 2001). However, many patients clearly stated their headaches improved when they took warfarin. As doctors are reluctant to start patients on long-term warfarin, further research was undertaken to look at the effects of heparin injections. This research will be published soon and the results show that no extra benefit was seen with heparin. This has surprised the researchers and it is not clear if additional research will be carried out in this area.

Conclusion

Hughes’ syndrome is a relatively common and preventable cause of recurrent stroke, thrombosis and loss of pregnancy. A greater awareness of Hughes’ syndrome may lead to considerable improvements in the quality of life for the patients with this condition.

Hughes’ Syndrome Foundation

Rayne Institute

St Thomas’ Hospital

London SE1 7EH

Hughes’ syndrome advice line:

Tel: 020 7960 5563

www.Hughes-syndrome.org

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