Finding a medical reason for miscarriages can be good news for women who suffer multiple losses. Eoin Burke-Kennedy reports
Lorraine McKenna wanted the doctors to find something wrong. She had submitted herself to a battery of tests desperately hoping they would throw up something out of the ordinary - a reason to explain why she had suffered her second miscarriage in as many years.
Women are normally advised to go for tests only after recurrent miscarriages, which is three or more.
The rationale is that miscarriage is common - occurring in up to 30 per cent of pregnancies - and many women who have two or even three miscarriages go on to have normal live births.
But McKenna, who was 34 at the time and living in London, admits she had an urgency to get tested. "Because of my age I felt time was running out to have a child and I needed to know if there was something the matter," she says.
In August 2004 she underwent a series of tests at the Chelsea and Westminster Hospital. "I know it's a strange thing to say but I was hoping there was something wrong with me.
"From a medical point of view, the best thing doctors can tell you after multiple miscarriages is that they don't know what's wrong with you. But that's the most heartbreaking thing to hear because it means you can't do anything about it."
As it turned out, the tests did show up something.
McKenna was found to have a condition known as Hughes Syndrome - an auto-immune disorder characterised by excessive clotting of the blood.
The condition, often referred to as "sticky blood syndrome", can cause migraine, vein thrombosis (including DVT) and more dangerous arterial thrombosis such as stroke or heart attack.
But significantly for McKenna, Hughes Syndrome is responsible for about 20 per cent of first trimester miscarriages.
Although the disorder can be treated with basic anti-coagulant therapy, it often goes undetected or misdiagnosed.
The condition was discovered in the early 1980s by Dr Graham Hughes who observed that some of his lupus patients had an increased tendency to suffer from blood clots and strokes.
Blood tests detected the presence of antiphospholipid antibodies in these patients. These antibodies can be detected in the blood of two to four per cent of the normal adult population and can occur harmlessly for brief periods after bacterial or viral illnesses or following the consumption of certain drugs, including antibiotics and cocaine.
But they are not considered normal blood proteins and are associated with a number of conditions.
Hughes quickly realised the condition he was observing could also occur without the presence of lupus and this proved to be the case for the majority of sufferers.
When the condition occurs in the absence of any underlying disease process, it is known medically as primary antiphospholipid syndrome (APS) but when it arises in combination with another disorder, such as lupus, it is known as secondary anitphospholipid syndrome.
Dr Beverley Hunt of the department of haematology in St Thomas's Hospital, London, explains: "You can be born with blood slightly stickier than normal. About 5 per cent of the population have some form of minor mutation in their coagulation system, which makes their blood more sticky and makes them more prone to DVT."
With Hughes Syndrome or APS, Hunt says, you can have problems with your arteries, such as stroke or heart attack and pregnancy problems.
"The condition seems to affect the same vascular bed - or the same set of blood vessels - each time. So if you have a stroke, your risk is for a recurrent stroke.
"It's as though each individual has a certain disposition in some part of them," she says.
"If you look at recurrent miscarriage, somewhere in the region of 20 per cent of the women have Hughes Syndrome. And if you look at people who have strokes at a young age - prior to the age of 40 - about 40 per cent have APS."
Hunt's own research shows that around 80 per cent of pregnant women who suffer from Hughes Syndrome have had a miscarriage or a "past pregnancy morbidity" and more than one-third have had a thrombotic event.
The research indicates that women who have recurrent miscarriages because of APS have a less than 10 per cent chance of carrying to term. "But when you treat it appropriately," Hunt says, "the chances of carrying to term are somewhere of the order of 80-90 per cent."
The treatment for pregnant woman normally involves a combination of aspirin and the blood thinner, heparin. Heparin, which must be injected, is preferred to the more familiar anticoagulant warfarin as the latter is potentially toxic to the foetus.
Dr Karen Murphy, consultant haematologist at St Vincent's Hospital in Dublin, says: "We are not entirely sure of the specific pathway of this disorder but one theory is that the antiphospholipid antibodies are interacting with the protective shield on the cells of the placenta as it grows into the uterine wall.
"There is also research which suggests the antibodies may be affecting implantation - inhibiting the cells and placenta from growing properly," she says.
Murphy believes detection rates in Ireland are "certainly better" with the appointment of more haematologists and high-risk obstetricians.
"So often this syndrome is treated by a haematologist like myself or increasingly there are obstetricians in this country with an interest in high-risk foetal maternal medicine, who have an interest in a lot of things that cause problems for women when pregnant."
But Murphy warns that a straightforward diagnosis is not always easy.
"It is not just a matter of sending off a blood test to the lab and you either have it or you don't.
"The test often needs to be repeated on a regular basis and, similarly, some tests can be positive and then it can disappear, so you have to be careful about the diagnosis," she says.
Murphy says that two blood tests, six weeks apart, are recommended. The blood must be screened for APS and both tests must be positive before a diagnosis can be confirmed. She said any GP can organise the tests.
"I suppose the one caution I would have is that recurrent miscarriages are very common," says Murphy
"Often women end up in the clinic with the expectation that something will be found that will answer all their questions. This unfortunately is very uncommon," she says.
"One of the joys I have in this job is managing people who have had a devastating number of miscarriages.
"When you treat them and suddenly they carry to term, it's the most wonderful thing in the world, both for the patient and the doctor."
McKenna has just recently given birth to her second baby and believes her experience may prompt other women who have suffered miscarriages to go to get tested.
"It just kills me to think what I might not have today if I had not got tested," she says.