Connective Tissue Disease

How Do Doctors Diagnose HDCTs? - Heritable Disorders of Connective Tissue

Diagnosis always rests first on a combination of family history, medical history, and physical examination.

Because many of these conditions are uncommon, the family physician may suspect a diagnosis but be uncertain about how to confirm it.

At this point, referral to experienced clinicians, often medical geneticists, can be extremely valuable to either confirm or exclude the suspected diagnosis.

Laboratory tests are available to confirm the diagnosis for many HDCTs, but not for all.

Once a diagnosis is made, laboratory studies may be available to provide some or all of the following:

  • prenatal testing to identify an affected fetus and assist in family planning
  • newborn screening to spot a condition that may become evident later in life
  • carrier testing to identify adults who, without symptoms, carry a genetic mutation for a disease
  • predictive testing to spot people at risk for developing a genetic connective tissue disease later in life. These tests are helpful for diseases that run in the family.

Diagnosis for the most common form of Ehlers-Danlos syndrome -hypermobility - is based on signs and symptoms, including extremely loose joints and stretchy skin.

For other types, doctors may need to do genetic testing usually by a blood test.

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