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HMSAware - Loeys-Dietz and differential diagnosis

In medicine, differential diagnosis is the distinguishing of a particular disease or condition from others that present similar symptoms. 

By bringing heritable disorders of connective tissue together under the HMSA umbrella, and raising awareness of the symptoms that can overlap between these disorders, we hope to increase the chances of patients, and the physicians treating them, recognising that there is list of potential possibilities for the symptoms experienced, thus increasing the chances of accurate diagnosis. Click here to read Rachel Martin's account of just how important the consideration of a differential diagnosis was to her life.


by Rachel Martin

I was born with a cleft palate, a split uvula and was a very “floppy” baby. I’m still “floppy” today. I’ve no core strength, but as an adult, I can manage it better. My mum had awful trouble feeding me. I had surgery on my cleft palate at 18 months but the surgeon said that it wasn’t the reason for my low appetite.

Tests were carried out in Crumlin hospital and they discovered that I had a diaphragmatic hernia, all of my organs were on the wrong side of my body. My parents didn’t know what was going on. It was the 1980s. There were no support groups and no genetic testing.

Growing up I was told I had congenital muscle myopathy – weak muscles. Imagine explaining that to someone in the playground. It was really making me stand out from everyone else because I was “different”. And I hate using that word, but that’s the way I felt.

I had my chest flattened as a teenager because I had pectus carinatum, a chest that protruded out. It’s called a pigeon chest, and mine was very severe.

They also tried to fix my shockingly flat feet and my crooked big toes, but that wasn’t a success, unfortunately.

In 2001, I arranged to go and have an echo done, ‘just in case’! When I met the cardiologist afterwards, he immediately labelled me as having Marfan syndrome (MFS), and that is what I lived with until July 2008!

In early 2008, my brother who lives in Boston was travelling to work and heard Dr Dietz speak about clinical tests with losartan for Marfan syndrome patients on the radio, and also heard him mention the National Marfan Foundation conference in Boston the following July. My brother encouraged me to fly over from Ireland to attend the conference but it took a little persuasion with various pieces of the jigsaw fitting together perfectly. I signed up for the conference and went. I was also lucky enough to be accepted for clinic appointments on the Friday, seeing genetics, orthopaedics, cardiology and ophthalmology.

I had an echo carried out on the Thursday and then came back for the clinic on the Friday. As soon as the geneticist saw me, the question of Loeys-Dietz syndrome (described by Dr Bart Loeys and Dr. Harry Dietz in 2005) was raised. The white of my eyes are slightly blue, stretched surgery scars, the cleft palate and split uvula are all classic signs of Loeys-Dietz syndrome (LDS). Many of my other features are common to Marfan, such as long digits and lax joints. 

When the ophthalmologist confirmed my eyes were fine, that added to the possibility of my clinical diagnosis of Marfan syndrome being incorrect. The echo was then measuring an aortic root dilation of 4.1 cm and it was advised that I should have heart surgery straight away.

Obviously I was upset, shaken and confused with this news, especially being away from home and my own doctors. I didn’t know how long I had left and felt every minute was a blessing.

On my return home, the rollercoaster went full speed. I visited a geneticist who arranged for genetic testing to be done. The sample was sent to Ghent University where Dr Loeys’ team carried out the testing. I have a mutation in TGFBR1 gene…after 28 years I finally had a diagnosis and reason for all the problems I’ve grown up with. I also contacted my surgeon, who I had been seeing and told him about this new probable diagnosis (before genetic results were back).

To cut this story a little, I had a very successful aortic root repair and valve-sparing surgery carried out on the 9th of September 2008 in Dublin. The surgical team and hospital staff were incredible. Surprisingly this surgery was one of the easiest to recover from out of all that I can remember. I was perky on day 3 and home on day 8. I was delayed a little due to low blood pressure and oxygen levels but they eventually crept up. I was back to work on a part-time basis 8 weeks post-op.

In January (2009), at a follow-up appointment after the heart surgery, I was informed I had an extremely severe case of dural ectasia, but at that time I was fortunate it wasn’t causing me too many noticeable issues. The following March (2009), I suffered a second spontaneous spinal fluid Leak. This time I was in a horizontal position for 10 days before being admitted to hospital for a blood patch. Two weeks later, I had full urinary retention and was catheterized for 9 weeks until one morning the catheter decided to come out on its own accord. I have managed without since. This retention has led to me try to find solutions to this problem, in particular surgery for the dural ectasia or Tarlov cyst as it was being called. 

I also experience severe headaches which are in part due to my cerebral spinal fluid, which protects the brain and spine.  I need to stay de-stressed and drink fluids to keep the headaches at bay. 

Every year I have an MRI and echocardiogram done. I have a hernia that I’m going to have repaired and I have an aneurysm in around my kidneys that they have to keep an eye on too. My hip started hurting a few months ago and I could barely walk for three to four weeks. It was really intense pain, for no reason. The orthopaedic surgeon said nothing could be done.

That’s what I often hear, “Oh, it’s just you, it’s just the way you are.” That’s so disheartening.

Between everything, I have had to give up my job as a property manager in Dublin, something I had really loved. I moved home and I’m fortunate to have such great parents and to be able to live with them.  I hope that someday I will get back to work, but my problem is that I’m not reliable. A cold wipes me out. A pain wipes me out. My life isn’t the way I want it to be, it’s taken a different turn. But there are a lot of positives in it. Music keeps me going. I’m very involved with the local adult choir and I’ve made a lot of friends through that.

Considering differential diagnosis when assessing patients for heritable disorders of connective tissue is so important. In my case, having Loeys-Dietz syndrome recognised may have saved my life.

Loeys-Dietz syndrome is a multi-spectrum, genetic disorder of the body’s connective tissue. It has some features in common with Marfan syndrome, but it also has some important differences.

Aortic dilation can be a lot more aggressive in LDS than in MFS.  The surgical intervention stage for LDS is recommended at 4cm-4.5cm, whereas with Marfan syndrome it is 4.5cm-5cm.

Patients with LDS are also at risk from other aneurysms elsewhere on the arterial tree and therefore should be monitored very closely for such. More detailed information on Loey-Dietz syndrome can be found at: To help the Hypermobility Syndromes Association continue our important work in this area, please consider making a donation to our running costs. This piece was first published in The Irish Times and reproduced with kind permission for the HMSAware campaign. 

Published: 25th February, 2020

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