Calls to improve ‘sticky blood’ diagnosis

Head of the London Lupus Centre at London Bridge Hospital, Professor Graham Hughes is calling for improvements to be made in the recognition, diagnosis and treatment of antiphopholipid syndrome (APS). Despite being first described in 1983, clinicians’ awareness of APS and the spectrum of symptoms associated with this autoimmune disease remains “patchy”, often resulting in long delays between initial presentation and referral for tests. Tragically, many young patients are only diagnosed after experiencing stroke, heart attack or multiple miscarriage – which, in many cases, could have been easily prevented with simple, low-cost aspirin.

Prof. Hughes explained that the condition was first discovered in Lupus patients who exhibited a tendency to have “sticky blood”. However, it is also prevalent outside of this patient group. Now known as “Hughes Syndrome”, it is responsible for 1 in 5 young strokes1 in the under 45s, 21% of heart attacks under the age of 452 and 1 in 5 cases of deep vein thrombosis (DVT).3 In pregnancy, it is also now recognised as one of the leading causes of recurrent miscarriage.4 “The immune system in these patients is over-productive and there are a number of theories as to how this may lead to an increased tendency towards venous and arterial blood clots. The antibodies may affect the phospholipids, leading to increased platelet ‘stickiness’; the inside lining of the blood vessels (endothelium) may be altered; or the antibodies may affect the actual clotting proteins of the blood,” Prof. Hughes explained. The two organs of the body that are most sensitive are the brain and the placenta. In young women there may be inadequate blood supply to the foetus, which can result in spontaneous abortion – with some women having as many as 12 or 14 miscarriages. “Although Hughes Syndrome is now considered to be common, we know from patient experience that there are often delays in diagnosis, with high costs to the NHS and the patient. A recent study found that, on average, it takes a patient three years to be diagnosed, visiting at least two consultants and spending 10 days in hospital before they receive a correct diagnosis,”5 he continued. “Greater awareness in the medical profession, especially at GP level, as well as the general public, would substantially reduce both the financial and emotional cost associated with this condition. Patients unfortunately arrive in A&E as emergency cases with DVT or pulmonary embolism, and – in the case of arterial clots – may present with stroke or heart attack. The figures are staggering,” he commented.

A conservative estimate of people at risk from Hughes Syndrome is 1% of the population – greater than the number of people that suffer from Parkinson’s disease or Multiple Sclerosis (MS). One study has even indicated that it could be as high as 2% to 4%. Prof. Hughes explained that Hughes Syndrome is more common in women (2:1), although the gender difference is less apparent when compared to Lupus (9:1). Often there may be a family history of autoimmune diseases (such as thyroid problems or Lupus, for example), while a strong family history of migraines for many patients also points towards genetic influences. “At the clinic, we see families with four to six members of the family with Hughes Syndrome and, in one family with 14 siblings, half had the condition,” said Prof. Hughes. “Not all patients will have a family history, but the numbers are such that we believe that genetic influences are important.” “Asking patients the right questions is key,” he continued. “Clinicians should ask if they have aunts with thyroid or MS, for example. One of my patients revealed that their cousins believed they were developing Alzheimer’s, when in fact they were young, female and probably had Hughes.”