Treatment of cerebrotendinous xanthomatosis with low-density lipoprotein (LDL)-apheresis.
We studied the effects of LDL-apheresis on the biochemical and clinical abnormalities of 5 patients with cerebrotendinous xanthomatosis (CTX). Levels of both cholestanol and cholesterol decreased to approximately 60% of those of pretreatment after one perfusion and gradually returned to their initial levels within 2 weeks. Improvement of clinical manifestations and regression of Achilles tendon xanthomas were detected after several perfusions, though dramatic changes could not be recognized. EEG abnormalities were improved immediately after LDL-apheresis in one patient. We conclude that LDL-apheresis may affect the serum cholestanol level and clinical manifestations in patients with CTX.
Mimura
Y
Y
Third Department of Internal Medicine Kagoshima University School of Medicine, Japan.
Kuriyama
M
M
Tokimura
Y
Y
Fujiyama
J
J
Osame
M
M
Takesako
K
K
Tanaka
N
N
D000125:Achilles Tendon / Q000473:pathology / Q000503:physiopathology; D000328:Adult; D001781:Blood Component Removal; D001933:Brain Stem / Q000503:physiopathology; D002635:Chenodeoxycholic Acid / Q000627:therapeutic use; D004083:Cholestanol / Q000097:blood; D002784:Cholesterol / Q000097:blood; D003131:Combined Modality Therapy; D004569:Electroencephalography; D005072:Evoked Potentials, Auditory; D005073:Evoked Potentials, Somatosensory; D006801:Humans; D008077:Lipoproteins, LDL / Q000097:blood*; D008297:Male; D008875:Middle Aged; D014973:Xanthomatosis / Q000097:blood / Q000503:physiopathology / Q000628:therapy*
D008077:Lipoproteins, LDL; D002635:Chenodeoxycholic Acid; D004083:Cholestanol; D002784:Cholesterol