Some first hear the word "Marfan" when it is offered as the suggested cause of their loved one's death. And so it was for Angus whose mother's fragile aorta was attributed to a "Marfanoid condition". This rare syndrome had been passed down to Angus, but was it Marfan or a more recently discovered connective tissue disorder?
I first heard the word ‘Marfan’ after my mother died during a heart operation 26 years ago. The surgeon suggested afterwards that perhaps she had had a “Marfanoid” condition that made her aorta fragile.
This word – new to me and my family – caused alarm, on top of the bereavement. As anyone would do, we looked Marfan up on the internet. Of course, we found many scary descriptions and images, and mentions of short life expectancy. Some of my own physical characteristics (thinness and skeletal) tallied with those listed, and I started to fret about my children’s health.
The anxiety eased over the months after that. I recovered a bit of perspective: after all, I was a fit 30-something, and it didn’t feel as if anything had changed on that overnight. Soon, I received a referral to Dr Anne Child of St George’s Hospital, London, an international expert on such conditions. I remember her first words after seeing my echocardiogram: “I think you’re fine,” she said.
Fine, but now subject to regular annual check-ups. I started on one beta blocker pill, not because my blood pressure was high at the time, but to keep it lower than it otherwise would have been to minimise strain on the aorta. More recently, other pills were added, to limit pressure.
Over the years, my DNA was checked against markers for Marfan Syndrome. At one time, I was told that I had been checked against 63 variants and not matched any of them. But eventually, sometime in the late 2010s, a match did come up – not with Marfan, but with Loeys-Dietz Syndrome.
I hadn’t heard of LDS before. It was only identified in 2005, by two US-based geneticists, one naturally called Loeys and the other called Dietz. It sounded obscure and rare, and indeed I remember reading somewhere that it affected only one in 100,000 people.
However, it seems that LDS gets bigger all the time. I came to realise that there were at least five versions, with types 1, 2 and 3 more severe than types 4 and 5 (I’m type 4). Then, at last August’s excellent Marfan Symposium in London, I was surprised to find just as many people with LDS badges as those with Marfan badges.
There are probably far more people affected by LDS, many of them mildly and most of them undiagnosed, than there might have appeared to be at first. The hope is that, with the genetic breakthroughs done, treatment will advance rapidly along with diagnosis – particularly for those most severely affected
