Autoimmune Disease Outlook

Posted by Elaine Moore Jul 25, 2007

With greater awareness of autoimmune disorders and an understanding that people with one autoimmune disorder are likely to develop second and third autoimmune disorders, researchers are pushing for a more collective diagnostic approach. This approach is also similar to the view in cancer, where a category of disease rather than a specific disease, suggests diagnostic tests and treatment.

A Collective Approach

Dr. Noel Rose from Johns Hopkins states that patients with type 1 diabetes, for example, have a high risk of developing other autoimmune endocrine disorders, and patients with autoimmune thyroid disease have an increased risk of developing type 1 diabetes. He adds that, “Diagnostically, if a physician or patient is aware of this, he will be more on the alert.” (Todd Smith, Investing Autoimmune Disorders, Advancing genetic factors promise to propel autoimmune disease diagnostics into the modern era of clinical medicine, Advance for Administrators of the Laboratory, July, 2007)

Patient Management

The current trend of having autoimmune endocrine disorders managed by endocrinologists and connective tissue disorders managed by rheumatologists may not be the best approach for the patient. It’s also important to realize that not all methodologies for autoimmune disease testing are equally good. The literature might suggest that a particular laboratory analysis works best, but when introduced into the laboratory, the analysis might not work best in terms of sensitivity and specificity.

Molecular Genetics

The current trend in laboratory medicine is the development of diagnostic tests for specific genetic markers that show disease susceptibility and confirm diagnoses. For instance, many genetic mutations are responsible for deep vein thrombosis, and a complete workup includes DNA tests for genetic mutations to Factor V Leiden, Protein C, Protein S and other known causes of hypercoagulation.

Tests for HLA antigens are also useful in diagnosing autoimmune diseases. However, with the exception of the HLA B27 test for ankylosing spondylitis, HLA antigen testing has rarely been used for diagnostic testing in the clinical laboratory. In the future, tests for HLA markers as well as DNA mutations will play a greater role in diagnosing autoimmune diseases. Experts predict that within the next few years, the laboratory’s role in diagnosing autoimmune diseases will highlight genetic testing.

Autoantibody Testing

Although autoantibody testing is relatively expensive, specific autoantibody tests play a valuable role in diagnosis. Many autoantibodies that have been detected and found to occur in specific diseases, aren’t currently available outside of research laboratories. In terms of the ability of these tests to help confirm specific diagnoses, efforts are being made to make these tests more available and more affordable. Identifying the risks and likelihood of autoimmune diseases is the foundation of disease prevention and management.

The Outlook

A collective approach to diagnosing and managing autoimmune diseases and advances in laboratory medicine will help with both early diagnosis and early treatment interventions. With more research into the genetic profiles that contribute to disease, newer drugs that target the autoimmune defect, similar to the monoclonal antibody drugs that target the mediators of rheumatic arthritis, will follow, improving the overall outcome for autoimmune diseases.