The effectiveness of long-term dietary therapy in the treatment of adult Refsum disease.
OBJECTIVE
To evaluate the long-term effectiveness of dietary therapy with regular dietetic reinforcement for adult Refsum disease.


METHODS
Retrospective case note analysis of records of plasma phytanic acid and hospital admission of 13 patients with adult Refsum disease who attended the specialist centre and repeatedly received dietary instruction for a minimum of 10 years.


RESULTS
Patients undergoing review had attended for 11-28 years totalling 237 years. Median baseline phytanic acid concentrations at presentation were 1631 (370-2911) micromol/l and declined by 89+/-11% to 85 (10-1325) micromol/l. Levels of phytanic acid were completely normalised (<30 micromol/l) in 30%; partially normalised (30-300 micromol/l) in 50% and remained >300 pmol/l in 15%. The time required for phytanic acid levels to halve was 44.2+/-15.9 months in patients compliant with diet. No patient required admission or plasmapheresis/apheresis during this period for acute neuro-ophthalmological complications despite occasional spikes in phytanic acid levels attributable to intercurrent illness, surgery, sudden weight loss or psychological illness.


CONCLUSIONS
Dietary modification with regular reinforcement in Adult Refsum Disease can significantly reduce phytanic acid levels with time.
Baldwin
Eleanor J
EJ
Department of Chemical Pathology, St Thomas' Hospital, London, UK.
Gibberd
F Brian
FB
Harley
Claire
C
Sidey
Margaret C
MC
Feher
Michael D
MD
Wierzbicki
Anthony S
AS
D000293:Adolescent; D000328:Adult; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D006899:Mixed Function Oxygenases / Q000235:genetics; D009154:Mutation; D010831:Phytanic Acid / Q000097:blood; D012035:Refsum Disease / Q000097:blood / Q000178:diet therapy* / Q000235:genetics; D013997:Time Factors
D010831:Phytanic Acid; D006899:Mixed Function Oxygenases; C102623:PHYH protein, human