Hughes Syndrome Research

• What research is going on?
• Clinical Work
• The World Map
• Causes of Thrombosis
• Genetics
• Links to other Auto-immune Diseases
• Pregnancy and Infertility
• Blood Pressure and Hughes' Syndrome
• Treatment

What research is going on? ( Hughes Syndrome Research)

There is an extremely active and close-unit group of workers collaborating internationally on all aspects of the syndrome. Studies include genetics, the clotting mechanisms, newer treatments, and links with ‘auto-immune disease’ and so on. There are major international conferences every year, and a rapidly growing library of publications – many, for example, in the journal ‘LUPUS’. For purchase details see Sage Publications website.

Clinical Work ( Hughes Syndrome Research)

Clinical studies are going on in units throughout the world. The unit at St Thomas’ for example, whose funding comes to some degree from the efforts of the Hughes Syndrome Foundation, publishes up to 40 research papers each year.

The clinical & research team.

International collaboration is central to our work. For example, last year, we carried out studies with groups in Japan, France, Italy, Spain, Argentina, Brazil, Portugal and America. All the time, new clinical observations are being made, for example, the discovery that blood pressure problems in some patients are to kidney artery sludging – potentially treatable.

Or the development of newer brain scans to pick up more subtle lesions.

Or the recognition of the importance of Hughes Syndrome in the world of neurology – with some cases of headache, Multiple Sclerosis, movement disorders and ‘tics’ and memory loss all being potentially treatable.

The World Map ( Hughes Syndrome Research)

Studies and reports are coming in from all over the world. The International APS meeting – first started by Dr Hughes in 1985 is now in its 12th meeting – attracts up to 1000 doctors and researchers. It now seems that the Hughes Syndrome affects all continents and all races.

Causes of Thrombosis ( Hughes Syndrome Research)

The association between anti-phospholipid antibodies and thrombosis is strong. But the exact mechanism for the thrombosis remains uncertain. The antibodies have been shown to alter platelets, clotting proteins, and the blood vessel lining itself, but the relative contribution of each of these mechanisms, as of ‘outside’ influences such as smoking and the oral contraceptive pill are still under study.

Genetics ( Hughes Syndrome Research)

Hughes Syndrome has a slight, but definite, genetic tendency, and there are many patients who report a sister, or aunt with similar features. Studies of possible ‘risk genes’ requires large numbers of patients and only now are such studies becoming truly feasible.

Links to other Auto-immune Diseases ( Hughes Syndrome Research)

The link in some patients to Lupus has already been mentioned. It is possible that the other so-called ‘auto-immune’ disease such as Sjögrens Syndrome (Dry eyes, dry mouth, aches and pains) and thyroid disease are more frequent in Hughes Syndrome families.

Pregnancy and Infertility ( Hughes Syndrome Research)

The effect of the discovery of Hughes Syndrome on obstetrics has been sensational. Patients once sentenced to a less than 20% chance of a successful pregnancy can now expect an 80% chance of success. A potentially important line of research in Hughes Syndrome is in infertility.

A party held in the Lupus Clinic for mothers with Hughes' Syndrome (and previous pregnancy losses) and their babies.

Some patients have so many very early miscarriages that they are thought to be infertile. In many IVF clinics, aspirin or heparin are being added to the treatment. At the present time, it is unclear if the association is strong or not but there are now IVF studies worldwide addressing this.

Blood Pressure and Hughes Syndrome ( Hughes Syndrome Research)

xRay of the blood flow to the kidney showing
a localised area of narrowing in the main kidney artery
in a patient with Hughes' Syndrome.

Over the last three years we have found about one third of our patients with Hughes Syndrome and high blood pressure have narrowed arteries to the kidneys. After treatment with warfarin and in some cases a surgical procedure to open the narrowed artery with a balloon, the blood pressure has become easier to control. This is an exciting development in the treatment of high blood pressure in Hughes Syndrome.

Treatment ( Hughes Syndrome Research)

Newer forms of anticoagulation are on the way possibly dispensing with INR measurement. Other trials in progress include the assessment of heparin in APS headache, the use of immunoglobulin, and an international prospective trial of aspirin versus low dose Warfarin in individuals with positive blood tests but as yet no history of thrombosis. This major study, coordinated by Dr Khamashta and Dr Cuadrado at St Thomas’, is sponsored by the Arthritis and Rheumatism Council.