Two Siblings with Cerebrotendinous Xanthomatosis / 대한피부과학회지

Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive lipid storage disease caused by sterol 27-hydroxylase (CYP27) deficiency. We report two CTX siblings that were presented with typical manifestations such as achilles tendon xanthomas, mental retardation, progressive gait ataxia, and upper motor signs. Their parents and other three sisters were healthy. Serum cholesterol level was within normal limits for both siblings. The older brother has been treated conservatively with muscle relaxant and dopamine agonist because the disease was so progressive, but the younger sister has been treated with 250 mg/day chenodeoxycholic acid (CDCA) and 3-hydroxy-3-methylglutaryl coenzyme A (HMG-CoA) reductase inhibitor (simvastatin 40 mg/day) to prevent the progressive neurologic dysfunction.

Regression of Achilles Tendon Xanthoma in Patients with Familial Hypercholesterolemia Treated with HMG Co-A Reductase Inhibitor and Bile Acid Resin

BACKGROUND: Familial hypercholesterolemia(FH) is an autosomal dominant inharited disorder. Total cholesterl level of FH heterozygotes is two to fourfold higher than that of normal population. Substained hypercholesterolemia results in cholesterol deposition on various organs or tissues and Achilles tendon xanthoma due to cholesterol deposition is one of the specific clinical findings of FH. One of the lipid lowering drugs, 3-hydroxy-3-methylglutaryl coenzyme A(HMG Co-A) reductase inhibitor effectively lowers the blood cholesterol level in patients with FH, but whether the cholesterol deposition can be regressed by the lipid lowering drugs is rarely reported. This study attemted to determine whether the tendon xanthoma can be regressed by lipid lowering drugs commonly used in patients with FH. METHODS: We analyzed procepectively the serum lipid levels of patients with heterozygous FH before and after lipid lowering therapy with HMG Co-A reductase inhibitor alone(Lovastatin or Pravastatin) or in combination with bile acid sequestrating resin(Cholestyramine). The Achilles tendon thickness was measured radiographically by using soft tissue technique. RESULT: Total 18 patients with heterozygotes FH(M : F=8 :10, mean age; 51.7+/-9.0 years) were treated with the HMG Co-A reductase inhibitor alone or combined with bile acid sequestrating resin and followed for mean 31.9+/-11.9 months. During that period, serum total cholesterol and low density lipoprotein cholesterol significantly fell from 329+/-42 mg/dl to 230+/-29 mg/dl and from 246+/-56 mg/dl to 151+/-28 mg/dl, respectively(p<0.001). Serum high density lipoprotein level increased and maintained 15.3% higher than basal level(p<0.01). Achilles tendon thickness decreased significantly from 13.3+/-3.1 mm to 11.9+/-3.2 mm(p<0.001) with percent reduction of 9.8+/-10.5%(range; 3.1-36.4%). The amount of change of tendon thickness was significantly correlated only with percent reductionof LDL(p=0.029) and female sex(p0.020) on univariate analysis, but it was found to be significantly correlated only with percent reduction of LDL on multivariate analysis(r=0.514,p=0.029). CONCLUSION: Achilles tendon xanthoma can be regressed by effective lipid lowering therapy with HMG Co-A reductase inhibitor alone or with bile acid sequestrating resin in patients with heterozygous FH. the regression of tendon xanthoma is likely to be related to reduction of serum LDL.