Chenodeoxycholic Acid is a kind of hepatology medication. CTX is a rare disorder of lipid metabolism, which can cause significant neurological and non-neurological manifestations. Early diagnosis and bile acid replacement can halt the progression of the disease. Current data shows significant diagnosis delay, of about 16 years, resulting in permanent neurological damage and premature atherosclerosis. It should be suspected in patients with tendinous or tuberous xanthoma, early onset cataracts, childhood-onset diarrhea, premature atherosclerosis and unexplained neurologic symptoms with normal or near normal lipid analysis.
On physical exam, he had a BMI of 22 and had large tendinous and tuberous xanthomas on his Achilles tendons, hands and back. His lipid profile revealed total cholesterol-220mg/dl, triglycerides-254mg/dl, LDL-130mg/dl and HDL-39mg/dl. MRI brain showed T2 prolongation in the bilateral dentate nuclei and paraventricular white matter with cerebral and cerebellar atrophy. Serum cholestanol was elevated at 8.5mg/L (99th percentile of 200,000 normal controls is 5.6mg/L), which confirmed the diagnosis of CTX. Serum sitosterol and campesterol were normal. Disorder was confirmed by gene analysis. Patient was recently started on Chenodeoxycholic Acid.
Chenodeoxycholic acid and ursodeoxycholic acid, both drugs have not achieved a satisfactory therapeutic effect of a variety of reasons. For example, some patients with gallbladder stones are not cholesterol but bile pigment stones; the calcium salt of cholesterol gallstones more like. But the main reason we have yet to recognize the exact cause and the formation of gallstones. Therefore, it is the people of chenodeoxycholic acid and ursodeoxycholic acid enthusiasm has gone down.