Diagnosis

Autoimmune diseases are usually diagnosed according to the functional deficits that ensue in affected organs, rather than by their immunological features per se. This applies to autoimmune disease affecting the thyroid gland, adrenal gland, pancreatic islets, stomach, liver, kidney, muscles, neural transmitters, etc. However, testing for the disease-relevant autoantibody will in many instances provide specific and decisive diagnostic information, exemplified by testing for the antiglobulin reaction in hemolytic anemia, and for autoantibodies to acetylcholine receptor in myasthenia gravis, adrenal cortical cells in Addison's disease, dsDNA in SLE, mitochondrial pyruvate dehydrogenase enzyme complexes in primary biliary cirrhosis, or to the combination of nuclei and F actin in type 1 autoimmune hepatitis. An interesting application of modern sensitive and automated tests for autoantibodies, utilizing recombinant autoantigens, is screening for presymptomatic autoimmune disease, e.g. assays for anti-GAD (glutamic acid decarboxylase) and other islet autoantigens to detect presymptomatic IDDM among first-degree relatives, or even among populations.

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