Misdiagnosis

Abstract

Fabry disease is associated with a wide range of clinical manifestations, some of which overlap with other disorders, thus resulting in diagnostic errors and delays in diagnosis. We performed various studies to identify patients affected by Fabry disease among subjects who received a different diagnosis not fully supported by diagnostic criteria. In particular, we evaluated patients with a previous diagnosis of anomalous familial Mediterranean fever, individuals with presumptive/possible multiple sclerosis, and subjects with severe renal impairment. To date we have identified 11 Fabry patients who had not yet received a proper diagnosis. Studying the relatives of the patients, we found 31 individuals affected by Fabry disease. Since misdiagnosis and diagnostic delay may impact on patient outcomes, clinicians should consider a diagnosis of Fabry disease in subjects with atypical clinical courses, uncertain diagnoses, and clinical pictures with unclear systemic involvement, especially in the presence of painful crises, heat and/or cold intolerance, hypohidrosis, or angiokeratomas.