Loey-Dietz Syndrome

What is Loey-Dietz syndrome?

Loey-Dietz syndrome is a rare disorder of the body’s connective tissue. It was first described in 2005 and is still confused with other connective tissue disorders such as Marfan syndrome.

What are the symptoms of Loey-Dietz syndrome?

Symptoms of this rare disorder include:

Abnormal craniofacial features
- These include widely spaced eyes, a broad uvula, and a bifid
- Rarer features include cleft palate and craniosynostosis
Some patients experience club foot
Some patients experience gastrointestinal complaints, severe food allergies, and scoliosis as well
Abnormal skin
- This may mean soft/velvety skin, translucent skin, skin that breaks and bruises easily, scarring issues, and/or recurrent hernias
Tortuous vessels
Aneurysms throughout the arterial tree

What causes Loey-Dietz syndrome?

Mutations in numerous genes can cause Loey-Dietz syndrome, such as the TGFBR1, TGFBR2, SMAD3, TGFB2, and TGFB3 genes. The commonality between these genes is their role in the tgf-beta pathway. Medical professionals are still investigating these genes and their relation to the characteristic symptoms.

In terms of inheritance, Loey-Dietz syndrome is passed down in an autosomal dominant pattern if it is inherited genetically. If not, it is a sporadic mutation, which is often the case.

How is Loey-Dietz syndrome diagnosed?

Upon suspicion, doctors will perform a physical examination and look for the characteristic symptoms of the disorder. Echocardiograms and imaging tests will be used to distinguish this condition from others and for further investigation. Genetic testing can confirm a diagnosis.

What are the treatments for Loey-Dietz syndrome?

Monitoring is the main portion of treatment and care for Loey-Dietz syndrome. Every six months to one year, affected individuals undergo imaging tests and echocardiograms. If something is noticed in these check-ups, then doctors can move to treat it. For example, aortic root replacement surgery may be used to replace any weak tissue before it tears. Other treatment is symptomatic, and it is also recommended that patients stay active with light activities like walking, swimming, tennis, or any other exercise you can have a light conversation throughout.