Diagnosing Undifferentiated Connective Tissue Disease

What is undifferentiated connective tissue disease?

Connective tissue diseases (CTDs) are autoimmune diseases that affect the body’s connective tissues, such as tendons, ligaments, or blood vessels. Undifferentiated connective tissue disease (UCTD) is a type of CTD that has characteristics of a connective tissue disease but does not meet the diagnostic criteria for one of the more than 200 specific types of CTD.

A diagnosis of undifferentiated connective tissue disease (UCTD) is made when an individual has signs and symptoms of a connective tissue disease (CTD) but does not fully meet the diagnostic criteria for a specific type of CTD.

Diagnostic process

The diagnostic process typically begins with a physical exam and thorough medical history. Questions regarding any family history of CTDs will be asked and a physical examination of the joints, skin, eyes, mouth, and other parts of the body will be performed.

Several tests are usually ordered to eliminate the possibility of specific types of CTD or other related health conditions to help confirm a diagnosis of UCTD:

• Blood tests
  Individuals with CTDs will test positive for antinuclear antibodies, which indicate the presence of an autoimmune disease. Antinuclear antibodies may need to be present on two occasions for a definitive diagnosis of UCTD. Other blood tests, such as C-reactive protein test and erythrocyte sedimentation rate, may also be ordered to check for inflammation in the body.
• Imaging tests
  X-rays and magnetic resonance imaging (MRI) scans may be used to examine the joints. These tests can show signs of arthritis and other connective tissue diseases as well as eliminate the possibility of other conditions, such as osteoporosis or fractures.
• Tests for dry eyes or dry mouth
  A Schirmer’s test measures tear production. Tests such as a sialogram or salivary scintigraphy check the function of the salivary glands in the mouth.
• Biopsy
  A skin biopsy may be performed to check for inflammatory cells or to eliminate the possibility of other medical conditions.

Health care professionals use these tests to determine if a connective tissue disease is present. If signs and symptoms of multiple CTDs are present or the diagnostic criteria for a specific CTD are not met, a diagnosis of UCTD may be considered.

In general, a diagnosis of UCTD is only made when symptoms are present for at least three years. The term “early UCTD” is sometimes used when symptoms have not been present for at least three years. A UCTD diagnosis may change if symptoms eventually become consistent with a specific connective tissue disease, such as lupus or rheumatoid arthritis.