Cerebrotendinous Xanthomatosis (CTX) is a rare familial disease characterized by tendon-
xanthomas,
cataracts, progressive
cerebellar ataxia,
dementia and an elevation of serum
cholestanol with normal levels of
cholesterol. Although the pathogenesis of CTX is not fully understood, increment of
cholestanol is suggested one of the major metabolic derangements of the disease. Recently, the
LDL-
apheresis has been developed as a new therapeutical equipment in the field of
hyperlipidemia and been widely used to reduce the levels of
LDL-cholesterol by selective
LDL adsorption. From the point of view that
cholestanol is involved mainly in
LDL-cholesterol (1.019 less than d less than 1.063), we used this
LDL-
apheresis in the aim of reducing the
cholestanol in 58 years old woman with typical sign and symptoms of CTX. The levels of serum
cholestanol and
cholesterol before the treatment with
LDL-
apheresis, were 10.7 micrograms/ml and 175 mg/dl respectively. Also the ratio of
cholestanol/
cholesterol indicated 0.63. By the first procedure of
apheresis, the level of
cholestanol was markedly decreased to 5.2 micrograms/ml (50%). Several
LDL-
apheresis treatments were carried out once a month. During 5 months treatments, neurological deterioration was arrested,
dementia which included disorientation and recent-
memory loss, cleaned a little. Although the
xanthomas did not decrease in size, this patients was better oriented to person, place, time and was able to speak rationally, 2nd her
cerebellar dysfunction revealed improvement. From our new experiments-we believe that the
LDL-
apheresis offers the strong hope of preventing the progress on
cerebrotendinous xanthomatosis.