Treatment of cerebrotendinous xanthomatosis with low-density lipoprotein (LDL)-apheresis

Mimura, Yoshihiro; Kuriyama, Masaru; Tokimura, Yoshika; Fujiyama, Jiro; Osame, Mitsuhiro; Takesako, Ken-ichi; Tanaka, Nobuyuki

doi:10.1016/0022-510x(93)90303-g

Cited by 25 publications

(9 citation statements)

References 10 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…12,13 The favorable effects of LDL apheresis on the biochemical and clinical abnormalities of patients with CTX have also been described. 14 Tenosynovial giant cell tumor of tendon sheath can be considered in the differential diagnosis considering the location and presence of giant cells. However, there are no stromal cells or hemosiderin-laden macrophages.…”

Section: Discussionmentioning

confidence: 99%

Cerebrotendinous Xanthomatosis

Srinivas¹,

Patnayak²,

Rao³

et al. 2007

Acta Cytologica

View full text Add to dashboard Cite

Section: Discussionmentioning

confidence: 99%

Cerebrotendinous Xanthomatosis

Srinivas¹,

Patnayak²,

Rao³

et al. 2007

Acta Cytologica

View full text Add to dashboard Cite

“…Following the discovery that the biliary bile acid composition of patients with CTX is abnormal, with a virtual absence of CDCA (Salen 1971), administration of CDCA orally was evaluated and shown to correct the biochemical abnormalities and improve clinical symptoms in 17 patients with CTX (Berginer et al 1984). Alternative treatments have been examined, including hydrophilic bile acids (Batta et al 2004;Koopman et al 1985), cholestyramine (Batta et al 2004), clofibrate (Salen and Grundy 1973), statins (alone or in combination with CDCA) (Peynet et al 1991;Salen et al 1994;Verrips et al 1999b), and LDL apheresis (Mimura et al 1993;Dotti et al 2004), but have generally shown limited efficacy in inhibiting abnormal bile acid synthesis, reducing and maintaining reduced cholestanol levels, and/or demonstrating significant clinical improvement. Cholic acid has shown some efficacy (Koopman et al 1985), but it has not been widely tested and may not inhibit cholestanol formation to the same extent as CDCA .…”

Section: Treatmentmentioning

confidence: 99%

Epidemiology, diagnosis, and treatment of cerebrotendinous xanthomatosis (CTX)

Salen

Steiner

2017

J of Inher Metab Disea

139

150

View full text Add to dashboard Cite

Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive disorder of bile acid synthesis caused by mutations in the cytochrome P450 CYP27A1 gene that result in production of a defective sterol 27‐hydroxylase enzyme. CTX is associated with abnormally high levels of cholestanol in the blood and accumulation of cholestanol and cholesterol in the brain, tendon xanthomas, and bile. Hallmark clinical manifestations of CTX include chronic diarrhea, bilateral cataracts, tendon xanthomas, and neurologic dysfunction. Although CTX is a rare disorder, it is thought to be underdiagnosed, as presenting signs and symptoms may be nonspecific with significant overlap with other more common conditions. There is marked variability in signs and symptoms, severity, and age of onset between patients. The disease course is progressive and potentially debilitating or fatal, particularly with respect to neurologic presentations that can include intellectual disability, autism, behavioral and psychiatric problems, and dementia, among others. Treatment with chenodeoxycholic acid (CDCA; chenodiol) is the current standard of care. CDCA can help restore normal sterol, bile acid, bile alcohol, and cholestanol levels. CDCA also appears to be generally effective in preventing adverse clinical manifestations of the disease from occurring or progressing if administered early enough. Improved screening and awareness of the condition may help facilitate early diagnosis and treatment.

show abstract

“…The efficacy of treatment with HMG-CoA reductase inhibitors alone is controversial, and some adverse effects such as hepatic dysfunction and rhabdomyolysis may be observed [ 98 , 99 ]. Other possible treatments that lack reliable clinical validation include vitamin E supplementation, low-density lipoprotein apheresis, and liver transplantation [ 5 , 21 , 24 , 100 ]. Surgical excision of bilateral tendon may worsen the gait imbalance and cannot prevent the deterioration of neurologically affected patients [ 22 ].…”

Section: Management and Prognosismentioning

confidence: 99%

Cerebrotendinous xanthomatosis: a comprehensive review of pathogenesis, clinical manifestations, diagnosis, and management

Nie

Chen

Cao

et al. 2014

Orphanet J Rare Dis

262

245

View full text Add to dashboard Cite

Cerebrotendinous xanthomatosis (CTX) OMIM#213700 is a rare autosomal-recessive lipid storage disease caused by mutations in the CYP27A1 gene; this gene codes for the mitochondrial enzyme sterol 27-hydroxylase, which is involved in bile acid synthesis. The CYP27A1 gene is located on chromosome 2q33-qter and contains nine exons. A CYP27A1 mutation leads to decreased synthesis of bile acid, excess production of cholestanol, and consequent accumulation of cholestanol in tissues. Currently there is no consensus on the prevalence of CTX, one estimate being <5/100,000 worldwide. The prevalence of CTX due to the CYP27A1 mutation R362C alone is approximately 1/50,000 in Caucasians. Patients with CTX have an average age of 35 years at the time of diagnosis and a diagnostic delay of 16 years. Clinical signs and symptoms include adult-onset progressive neurological dysfunction (i.e., ataxia, dystonia, dementia, epilepsy, psychiatric disorders,peripheral neuropathy, and myopathy) and premature non-neurologic manifestations (i.e., tendon xanthomas, childhood-onset cataracts, infantile-onset diarrhea, premature atherosclerosis, osteoporosis, and respiratory insufficiency). Juvenile cataracts, progressive neurologic dysfunction, and mild pulmonary insufficiency are unique symptoms that distinguish CTX from other lipid storage disorders including familial dysbetalipoproteinemia, homozygous familial hypercholesterolemia, and sitosterolemia, all of which might also present with xanthomas and cardiovascular diseases. Brain magnetic resonance imaging (MRI) shows bilateral lesions in the dentate nucleus of the cerebellum and mild white matter lesions. The classical symptoms and signs, namely elevated levels of cholestanol and bile alcohols in serum and urine, brain MRI, and the mutation in the CYP27A1 gene confirm the diagnosis of CTX. Early diagnosis and long-term treatment with chenodeoxycholic acid (750 mg/d) improve neurological symptoms and contribute to a better prognosis.

show abstract

Treatment of cerebrotendinous xanthomatosis with low-density lipoprotein (LDL)-apheresis

Cited by 25 publications

References 10 publications

Cerebrotendinous Xanthomatosis

Cerebrotendinous Xanthomatosis

Epidemiology, diagnosis, and treatment of cerebrotendinous xanthomatosis (CTX)

Cerebrotendinous xanthomatosis: a comprehensive review of pathogenesis, clinical manifestations, diagnosis, and management

Contact Info

Product

Resources

About