About Loeys-Dietz Syndrome
What is Loeys-Dietz syndrome (LDS)?
Loeys-Dietz syndrome is a rare, genetic condition that affects the body’s connective tissue. LDS was first described in 2005 by Dr. Bart Loeys and Dr. Hal Dietz.
Signs and Symptoms
Loeys-Dietz syndrome (LDS) symptoms may range from mild to severe and may be found in different areas of the body. LDS can affect each person differently, even if they have the same type of LDS (types 1-6) or are in the same family.
The signs and symptoms of Loeys-Dietz syndrome are most commonly observed in the following body systems:
- Cardiovascular (heart and blood vessels)
- Skeletal (bones)
- Craniofacial (head and face)
- Cutaneous (skin)
- Allergic or inflammatory
Receive a Diagnosis
A Loeys-Dietz syndrome diagnosis is based on genetic testing and/or an individual’s physical features.
Where can an individual start the process of receiving a diagnosis?
A medical professional such as a primary care provider or geneticist can start this process and discuss the steps and considerations.
Treatment and Management Recommendations
- An individualized approach. Treatment and management differ from person to person because LDS can affect individuals in different ways.
- A multidisciplinary team of medical professionals. Loeys-Dietz syndrome can produce symptoms throughout the whole body and multidisciplinary care allows medical specialists from different disciplines (cardiology, orthopedics, etc) to address different symptoms and areas of the body. This team may include a primary care provider, geneticist, mental health professional, care coordinator, and various specialists.
- Shared decision-making between medical professionals, patients, and families. Shared decision-making considers the patient’s needs and wants, helps the patient and family to understand the condition and treatment options, and is particularly important for events such as surgery or pregnancy.
Treatment and management options for Loeys-Dietz syndrome include medication, vascular or cervical spine imaging, surgery, orthopedic treatment, and exercise restrictions.
Research
Loeys-Dietz syndrome research is promising and ongoing.
The Loeys-Dietz Syndrome Foundation Canada supports research through the LEAP Impact Award, GRIP database, CAN-ACT registry, and other initiatives.
Genetics
Loeys-Dietz syndrome is a genetic condition and is caused by a mutation (change) in one of the following six genes: SMAD2, SMAD3, TGFB2, TGFB3, TGFBR1, or TGFBR2. These mutations are not anyone’s fault.
There are six types of LDS (LDS1-6) and each type is caused by a mutation in one of the six different genes.
Learn more about LDS genetics: where mutations come from, genetic testing, how family members may be affected, and family planning.
What is Connective Tissue?
Loeys-Dietz syndrome is a connective tissue disorder. This means that LDS affects the body’s connective tissue.
Connective tissue connects, supports, and helps bind other tissues in the body. It can be found in blood vessels, bone, cartilage, skin, ligaments, tendons, and more.
Other connective tissue disorders include Marfan syndrome (MFS), Vascular Ehlers-Danlos syndrome (vEDS), Shprintzen-Goldberg syndrome (SGS), and Meester-Loeys syndrome (MRLS). LDS shares similarities and differences with other connective tissue disorders.
Find Help and More Information
For patients and families, find our:
- Resource Directory
- Clinic Directory
- Information on preparing for surgery
- Information on pain management, physical activity, and mental health
For medical professionals, find resources:
- Head-to-Toe of features observed in Loeys-Dietz syndrome
- Article: Loeys-Dietz Syndrome (2018), by Dr. Bart Loeys and Dr. Harry Dietz
- 2022 ACC/AHA Guideline for the diagnosis and management of aortic disease
- VASCERN Do’s and Don’ts for situations frequently faced by Loeys-Dietz syndrome patients
- Cardiovascular risk calculators
- UTHealth Genomic Medicine Guidance application
- General information on Loeys-Dietz syndrome
