title: Fabry's disease presenting as syncope, angiokeratomas, and spoke-like cataracts in a young man: discussion of the differential diagnosis.
abstract: A 44-year-old male with a remote history of skin lesions and cataracts presented with subacute onset of syncope. The presentation and the differential diagnosis in this case of Fabry's disease are discussed. The pathophysiology, diagnosis, clinical manifestations, and treatment of this disorder are discussed, with a review of the literature. Fludrocortisone acetate therapy resulted in a reduction in the patient's syncopal event frequency. Serum enzymatic assay and skin biopsy are useful in the diagnosis of Fabry's disease. We advocate a conservative approach to the oculocutaneous symptoms and suggest appropriate interventions for the renovascular and autonomic nervous system complications of this disorder.
authors.affiliation: 60th MDOS/SGOMU, David Grant USAF Medical Center, Travis AFB, CA 94535, USA.
authors.forename: D L
authors.initials: DL
authors.lastname: Menkes
authors.forename: T J
authors.initials: TJ
authors.lastname: O'Neil
authors.forename: K K
authors.initials: KK
authors.lastname: Saenz
mesh_terms: D000328:Adult; D000794:Angiokeratoma / Q000209:etiology*; D000893:Anti-Inflammatory Agents / Q000627:therapeutic use; D001706:Biopsy; D002386:Cataract / Q000209:etiology*; D003937:Diagnosis, Differential; D000795:Fabry Disease / Q000150:complications* / Q000175:diagnosis* / Q000188:drug therapy; D005438:Fludrocortisone / Q000627:therapeutic use; D006801:Humans; D008297:Male; D012878:Skin Neoplasms / Q000209:etiology*; D013575:Syncope / Q000209:etiology*
chemical_list: D000893:Anti-Inflammatory Agents; D005438:Fludrocortisone