Loeys-Dietz syndrome (LDS) is a genetic disorder that affects the connective tissue in the body. The condition was first described in 2005 and prior to that was often diagnosed as Marfan syndrome since the two conditions share similar features. Individuals with LDS can have a variety of different features in many different parts of the body including the heart, blood vessels, bones, joints, and skin.
Since LDS can affect different people in so many different ways, the making a diagnosis can be challenging. Diagnosing LDS requires consulting specialists familiar with the condition. Evaluation usually involves an echocardiogram (ultrasound of the heart), a genetic consultation, and genetic testing.
Treatment for LDS depends on what features a person has but may involves taking a medication to protect the heart and blood vessels, surgery for more serious heart or vessel problems associated with the condition, and orthopedic care for problems with the bones and joints.
LDS in caused by alterations (mutations) in either the TGFBR1 or TGFBR2 gene. LDS is inherited in an autosomal dominant pattern. This means that individuals with LDS have a 50% chance to pass the gene mutation to each of their children. The gene mutation causing LDS can be inherited from a parent and other members of the family also have the condition. However, many individuals with LDS are the first member of their family to have the condition because the mutation occurred spontaneously early in their development. Even if there is no family history, the children of anyone with LDS have a 50% chance to develop the condition.
Genetic testing can be done to confirm the diagnosis and so other family members can have genetic testing to determine if they have the condition.
Since LDS is a genetic condition, the family members of someone who has the condition may be at risk for related medical problems. Close relatives (parents, siblings, and children) of someone with LDS should be evaluated for the condition by consulting a geneticist or having genetic testing if the gene mutation associated with the condition in the family has been found.
Medical geneticist and genetic counselors are experts in genetic syndromes such as LDS. Individuals can be evaluated in the Marfan clinic at UCSF by calling (415) 353-2554. Genetics providers at other hospitals can be located by searching on this website.
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