title: Tangier disease--a diagnostic challenge in countries endemic for leprosy.
abstract: A case of Tangier disease (TD) is reported from India. The patient had presented with indolent mononeuritis multiplex and trophic ulcers of 16 years duration mimicking Hansen's disease. He received antileprosy treatment for one and a half years. Nerve conduction studies revealed features of demyelinating neuropathy. Biopsies of the sural nerve and skin showed striking vacuolation of Schwann cells and myelin sheaths, and foamy vacuolated fibroblasts, respectively, and no evidence of Hansen's disease. Low levels of apolipoprotein A1 (ApoA1) and cholesterol in the serum and undetectable levels of high density lipoprotein (HDL) and low density lipoprotein (LDL) cholesterol in the blood confirmed the diagnosis of TD. This is the first reported case of TD from a tropical country-India. An attempt to establish a correct diagnosis should be made by demonstrating the histopathological and lipoprotein abnormality to avoid long term medications that are chosen empirically and are unnecessary. The importance of recognising this disease in a country where Hansen's disease is highly endemic cannot be overemphasised.
authors.affiliation: Department of Neurology, NIMHANS, Bangalore, India.
authors.forename: S
authors.initials: S
authors.lastname: Sinha
authors.forename: A
authors.initials: A
authors.lastname: Mahadevan
authors.forename: L
authors.initials: L
authors.lastname: Lokesh
authors.forename: V
authors.initials: V
authors.lastname: Ashraf
authors.forename: B K
authors.initials: BK
authors.lastname: Chandrasekhar Sagar
authors.forename: A B
authors.initials: AB
authors.lastname: Taly
authors.forename: S K
authors.initials: SK
authors.lastname: Shankar
mesh_terms: D000328:Adult; D003937:Diagnosis, Differential; D003951:Diagnostic Errors; D019353:Endemic Diseases; D005712:Galvanic Skin Response / Q000502:physiology; D006801:Humans; D007194:India / Q000453:epidemiology; D007918:Leprosy / Q000175:diagnosis* / Q000453:epidemiology; D008297:Male; D008475:Median Nerve / Q000648:ultrastructure; D009431:Neural Conduction / Q000502:physiology; D013497:Sural Nerve / Q000648:ultrastructure; D013631:Tangier Disease / Q000175:diagnosis* / Q000453:epidemiology; D014459:Ulnar Nerve / Q000648:ultrastructure