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Diseases » Marfan syndrome » Diagnosis
 

Diagnosis of Marfan syndrome

Tests and diagnosis discussion for Marfan syndrome:

There is no specific laboratory test, such as a blood test or skin biopsy, to diagnose Marfan syndrome. The doctor and/or geneticist (a doctor with special knowledge about inherited diseases) relies on observation and a complete medical history, including

  • information about any family members who may have the disorder or who had an early, unexplained heart-related death

  • a thorough physical examination, including an evaluation of the skeletal frame for the ratio of arm/leg size to trunk size

  • an eye examination, including a "slit lamp" evaluation

  • heart tests such as an echocardiogram (a test that uses ultrasound waves to examine the heart and aorta).

The doctor may diagnose Marfan syndrome if the patient has a family history of the disease and there are specific problems in at least two of the body systems known to be affected. For a patient with no family history of the disease, at least three body systems must be affected before a diagnosis is made. Moreover, two of the systems must show clear signs that are relatively specific for Marfan syndrome.

In some cases, a genetic analysis may be useful, but such analyses are often time consuming and may not provide any additional helpful information. Family members of a person diagnosed with Marfan syndrome should not assume they are not affected if there is no knowledge that the disorder existed in previous generations of the family. After a clinical diagnosis of a family member, a genetic study might identify the specific mutation for which a test can be performed to determine if other family members are affected. (Source: excerpt from Questions and Answers about Marfan Syndrome: NIAMS)

 

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