Refsum's disease is a rare autosomal recessive disorder of
fatty acid metabolism. Poorly metabolized
phytanic acid accumulates in fatty tissues, including myelin sheaths and internal organs, leading to
retinitis pigmentosa, peripheral
polyneuropathy,
cerebellar ataxia, and renal, cardiac or liver impairment.
Dietary restriction of
phytanic acid in some cases is not sufficient to prevent acute attacks and stabilize the progressive course.
Phytanic acid bound to large
low density lipoproteins (
LDL) and
very low density lipoproteins (VLDL) molecules offers the possibility of extracorporeal elimination by
lipid apheresis. We report on the long-term
lipid apheresis treatment of four patients with severe
Refsum's disease.
Retinitis pigmentosa, peripheral
polyneuropathy,
cerebellar ataxia,
anosmia, and
sensorineural hearing loss were major symptoms exhibiting a progressive course.
Lipid apheresis was performed for 5-13 years without severe complications. Maximum levels of
phytanic acid before commencing chronic
lipid apheresis were >300 mg/l. During steady state with
lipid apheresis, mean
phytanic acid before treatments was 87 mg/l and was reduced to 36 mg/l. Mean reduction rate was 59% per treatment. In all patients, abnormal motor nerve conduction velocity with signs of chronic
denervation improved, morphological and functional stabilization of eye involvement was observed.
Lipid apheresis prevented the extension of the disease to previously unaffected organs in three patients. Extracorporeal elimination of
lipoprotein-
phytanic acid complexes by
lipid apheresis represents a pathophysiologically guided therapeutic approach, resulting in long-term improvement or stabilization of overall rehabilitation in patients with progressive
Refsum's disease.