Loeys-Dietz Syndrome
At the bottom of the page, you'll find a glossary where highlighted words are explained in more detail.
Introduction
There are five types of LDS, with Type 1 being the most severe and Type 5 the mildest. Common signs include heart issues, long fingers and toes, and facial features like wide-set eyes. Diagnosis is made through symptoms, family history, and genetic testing, with ongoing care to monitor health risks.
Symptoms
Loeys-Dietz syndrome (LDS) is a rare genetic connective tissue disorder (1), with 1 in 50.000 people having the syndrome (2). Individuals with LDS have less optimal working connective tissue, which supports and protects structures in the body, including the aorta, the eyes, and muscles (1, 2). 5 subtypes are recognised, with type 1 being the most severe and type 5 the least (2).
The syndrome is characterised by features such as cardiovascular, skeletal, craniofacial, and skin abnormalities (2). Craniofacial features in LDS include widely spaced eyes (hypertelorism), craniosynostosis (premature skull suture fusion), and bifid or broad uvula. Other common features are flat cheekbones and a small lower jaw (retrognathia). Skin issues include thin, translucent, velvety skin with visible chest veins, easy bruising, slow scar formation, and dystrophic scars.
Cardiovascular Manifestations:
- Aortic dilation
- Fragmentation of elastic fibers and loss of elastin content [link to article]
- Aortic aneurysm
- Aortic dissection
- Mitral Valve Prolapse (MVP)
Skeletal Manifestations:
- Skeletal overgrowth
o Long, slender digits
o Increased arm span-to-height ratio
o Rib overgrowth
- Joint abnormalities
o Joint hypermobility, which may lead to hip dislocations
o Reduced joint mobility
- Spin abnormalities
o Cervical spine issues, including malformations
o Scoliosis
- Flat feet
- Osteoporosis
Diagnosis and Treatment
Diagnosis of LDS is based on symptoms, family history and genetic testing (3). Monitoring of the disease involves regular imaging to assess cardiovascular risks, such as aortic dissection and aneurysm. Due to the high incidence of fractures, osteoarthritis and other skeletal manifestations, joint and bone health are monitored as well. Multidisciplinary care includes cardiology, orthopaedics and genetics. Some individuals have a regular screening for allergic reactions.
Want to know more?
Check out the concept list!
Aorta | The body’s main artery (blood vessel) connected to the heart which is responsible for the initial distribution of blood throughout the body.
Aortic aneurysm | Enlargement in the wall of the aorta, which can be life-threatening if it ruptures.
Aortic Dissection | Serious condition in which a tear occurs in the inner layer of the body’s aorta.
Cardiovascular Complications | General term to refer to conditions affecting the heart and/or blood vessels.
Craniofacial features | The physical characteristics of the head and face, including the skull, eyes, nose, and mouth.
Elastin | Stretchy protein present in elastic fibers in tissues that require elastic properties.
Elastic Fibers | Essential macromolecules comprising elastin and fibrillin polymers.
Mitral valve prolapse (MVP) | The valve between the heart's chambers doesn't close properly and bulges backward.
Are you curious about the scientific publications used to write this article? Check out the references!
1. Gouda P, Kay R, Habib M, Aziz A, Aziza E, Welsh R. Clinical features and complications of Loeys-Dietz syndrome: A systematic review. International Journal of Cardiology. 2022;362:158-67.
2. Loeys BL, Dietz HC. Loeys-Dietz Syndrome. GeneReviews. 2024.
3. MacCarrick G, Black JH, Bowdin S, El-Hamamsy I, Frischmeyer-Guerrerio PA, Guerrerio AL, et al. Loeys–Dietz syndrome: a primer for diagnosis and management. Genetics in Medicine. 2014;16(8):576-87.