title: Plasma exchange in the treatment of Refsum's disease (heredopathia atactica polyneuritiformis).
abstract: Five cases of heredopathia atactica polyneuritiformis (HAP--Refsum's disease) were treated by serial plasma exchanges. In all patients a reduction in calorie intake and body weight had been associated with a rise in plasma phytanic acid, followed by an exacerbation of the ataxia and neuropathy. Lowering the plasma phytanic acid by plasma exchange produced a rapid clinical improvement. The main indication for plasma exchange in HAP is a severe or rapidly worsening clinical condition. A lesser indication is failure of dietary management to reduce a high plasma phytanic acid level.
authors.affiliation: Department of Neurology, Westminster Hospital, London, UK.
authors.forename: D
authors.initials: D
authors.lastname: Harari
authors.forename: F B
authors.initials: FB
authors.lastname: Gibberd
authors.forename: J P
authors.initials: JP
authors.lastname: Dick
authors.forename: M C
authors.initials: MC
authors.lastname: Sidey
mesh_terms: D000328:Adult; D001835:Body Weight / Q000502:physiology; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D009460:Neurologic Examination; D010833:Phytic Acid / Q000008:administration & dosage / Q000097:blood; D010951:Plasma Exchange; D012035:Refsum Disease / Q000097:blood / Q000178:diet therapy / Q000628:therapy*
chemical_list: D010833:Phytic Acid