Munchausen syndrome and factitious disorder: the role of the laboratory in its detection and diagnosis

Abstract

The term Munchausen syndrome is used to describe the patient who chronically fabricates or induces illness with the sole intention of assuming the patient role. Such persons often have a close association with the medical profession and thus use their knowledge to falsify symptoms and laboratory specimens to mimic disease. Cases of factitious disease have appeared in the literature originating from all medical specialties, and include such rare disorders as phaeochromocytoma and Bartter's syndrome. The laboratory can play a key role in the detection and diagnosis of factitious disorders. Indeed discrepant biochemistry results may provide the first clue to the diagnosis. Laboratory staff should be particularly aware of highly variable test results and extreme abnormalities that are not consistent with the wider biochemical profile, suggesting sample tampering. Factitious disorder should also be included in the clinician's differential diagnosis when disease presentation is unusual or an underlying cause cannot be found. Investigation to exclude or confirm factitious disorder at an early stage can prevent unnecessary testing in the search for increasingly rare diseases. Appropriate analyses may include screening tests for the detection of surreptitious drug administration or replication of a fabricated sample to confirm the method used. In all cases close communication between the clinician and laboratory is essential. This will ensure that appropriate tests are conducted particularly with regard to time critical and repeat tests.