Genetic Testing Abused by Patient with Factitious Disorder

German aristocrat Karl Friedrich Hieronymus Freiherr von Münchhausen (1720–1797) was famous for telling highly exaggerated stories of unusual feats, travels, and adventures. In 1786, these tales were fictionalized and published in The Surprising Adventures of Baron Munchausen, by Rudolf Erich Raspe.¹ The medical profession “has since borrowed the name of this famous raconteur to describe a group of individuals whose complaints are fabricated, but nonetheless so convincing that patients are subjected to needless hospitalizations, diagnostic tests, and even surgery.”¹ The syndrome was formally described in 1951 by Richard Asher, a British physician.²

While the term “Munchausen syndrome” is still commonly used, formal DSM-5 diagnosis is “factitious disorder (FD) imposed on self”³ (in contrast to factitious disorder imposed on another, such as a child or other dependent, which is sometimes called “Munchausen by proxy”). Unlike patients who malinger, those with FD are not seeking financial gain, housing, medications, or time off from work. Falsified symptoms can be medical or psychiatric in nature.³

The estimated prevalence of FD in hospitalized patients ranges from 0.5% to 0.8%, with a prevalence of up to 6% to 8% on psychiatric units.⁴ However, these may be conservative estimates, since patients with FD are commonly misdiagnosed with medical conditions, somatoform disorders, or malingering.⁴

While FD can involve an array of conditions, it often involves movement disorders that are difficult to distinguish from organic disease.⁵ A recent article by Zittel et al describes “the novel constellation of a FD presenting as a supposedly genetically confirmed hereditary disease manifesting with abnormal movements.” The authors present this case because of the increasing diagnostic role of genetic testing “in all areas of medicine, including rare and unusual conditions.”

Case Report: A Patient with Pseudo-dopa-responsive Dystonia

Presenting complaint: The patient, a 42-year-old nurse, presented with complaints of increased muscle tone in her back muscles and the right side of her body starting in adolescence. Her symptoms had no diurnal fluctuations and had onset in adolescence. She also noted intermittent muscle twitches. She reported developing impaired coordination and fine motor skills and hemihypesthesia in her late thirties, and she was granted early retirement.

Current treatment regimen: Since her father was reported to also have increased muscle tone. Dopa-responsive dystonia was suspected and genetically confirmed at another institution (according to the patient’s report). Treatment with dopaminergic medication was initiated, which alleviated her symptoms. In response to her “genetically confirmed dopa-responsive dystonia,” she received levodopa 1100mg and pramipexole 0.18mg per day.