Loeys-Dietz syndrome (LDS) is a genetic disorder that disrupts your connective tissues. These tissues work to support and lend flexibility to your muscles, blood vessels, and bones.
The changes to your connective tissues affect your bone formation as well as the development of your arteries. It usually manifests when you’re in your teens, but you might not be diagnosed until you’re an adult.
This condition is rare and was only discovered in 2005. Since it’s a relatively new condition, some doctors may not be familiar with LDS.
The syndrome is often misdiagnosed as Marfan syndrome — another connective tissue disorder that has similar symptoms.
What Are the Genetic Causes of LDS?
There are five different versions of Loeys-Dietz syndrome depending on which of your genes has mutated. Specifically, each different version of LDS is caused by a mutation to a completely different gene, but all five of these genes are involved in the same cell-signaling pathway — the transforming growth factor beta (TGF-β) pathway.
This pathway controls how your cells function while you’re developing. It also helps with the development of the extracellular matrix — a web of proteins and other molecules that connects cells.
The mutated genes produce broken proteins that don’t work in the way that they’re supposed to. The symptoms of Loeys-Dietz syndrome are the result of these malfunctions.
The mutations are all dominant, which means that you only need to inherit one mutated copy in order to have the syndrome. In 75% of all cases, though, LDS mutations occur spontaneously — so there will be no family history of the syndrome before you develop it.
What Are the Symptoms of Loeys-Dietz Syndrome?
The most problematic symptom of Loeys-Dietz syndrome is an enlarged aorta. Your aorta is your main blood vessel that carries oxygen-filled blood away from your heart and to the other organs in your body.
LDS syndrome can cause either an aneurysm in your aorta — when your blood bulges out from the vessel like a small balloon — or an aortic dissection — when a tear forms in your blood vessel.
There are also frequent developmental issues with your muscles and skeletal system. These include:
- Craniosynostosis — when bones in your skull fuse too soon
- Scoliosis — abnormal spinal curvature
- A sunken or protruding chest
- A clubfoot or flat feet
- Osteoarthritis — joint inflammation
Almost 100% of people with LDS have abnormal skin. These differences include:
- Translucent skin
- Overly soft and velvety skin
- Easy bruising and bleeding
- Issues with scar formation
- Frequent stretch marks
Other symptoms include:
- Frequent headaches or migraines
- Abnormal air accumulation leading to a collapsed lung
- Hernias — when your organs bulge out between your muscles
- Gastrointestinal issues and food allergies
- Hypertelorism — widely spaced eyes
- Cleft palate — a split in the roof of your mouth
- Asthma
What Is the Treatment for Loeys-Dietz Syndrome?
How your doctor decides to treat your Loeys-Dietz syndrome depends on your particular symptoms. The general goals of treatment include:
- Lowering stress to your arteries
- Managing the different skeletal and muscle difficulties that develop and the pain that these can cause.
- Managing any immune system issues — possibly through medications
In cases where you develop an aneurysm, your doctor will decide on your treatment based on the size of the bulge. For small aneurysms, you won’t need a specific treatment — just frequent monitoring.
For larger aneurysms, you may need surgery. This will be an open-heart surgery where the damaged portion of your aorta is replaced with a synthetic tube.
What Is the Outlook for People with Loeys-Dietz Syndrome?
People with Loeys-Dietz syndrome will need frequent echocardiograms throughout their lives. The exact timing will depend on how severe your symptoms are, but some form of monitoring is required every six months to one year.
If you have Loeys-Dietz syndrome, you should avoid strenuous, repetitive activities — like sit-ups and push-ups. You should still be physically active — with hiking, biking, or swimming — but make sure that you have enough breath to maintain a conversation at the peak of your activities.
The life expectancy of those with Loeys-Dietz syndrome is estimated to be around 37 years old, but some people with the disorder can live much longer — sometimes into their seventies.
The Loeys-Dietz Syndrome Foundation
The Loeys-Dietz Syndrome Foundation is a volunteer organization that’s a great resource for current research and personal stories about the syndrome. Their main goal is the education of both medical professionals and the families of people with the disorder.
They provide information through their website, a newsletter, and social media. This could be a valuable source of support for people who have been — or know someone who was — recently diagnosed with LDS.