Indian prevalence of familial hypercholesterolemia demystified by applying Dutch lipid clinic network criteria

Background:Dyslipidemia is a growing problem in India, with familial hypercholesterolemia (FH) being an under diagnosed and under treated cause of the same. FH is a common genetic disorder associated with high LDL cholesterol, leading to premature CAD and peripheralvascular diseases. The prevalence of FH is 1 in 250 individuals. True global prevalence of FH is underestimated. The prevalence of FH in Indian population is still unknown. Methods:A total 4000 patients who had tested their lipid profile at Max hospital, between Aug 2017-Aug 2019 were screened. Out of these we found 530 patients with LDL cholesterol ?155 mg/dl. Amongst these, 90 patients consented for clinic visit and examination, and thus enrolled and assessed for FH using the Dutch lipid clinic network (DLCN) criteria. Based on scores, patients were diagnosed as definite, probable, possible, or no FH. Other risk factors known to cause dyslipidemia such as smoking, diabetes mellitus and hypertension were excluded.Results:In a general population of 4000 patients, 4 individuals were detected with definite FH, showing a prevalence of 1 in 1000 (0.1%). Out of the enrolled 90 patients with high LDL cholesterol, 4 (4.44%) were diagnosed as definite, 14 (15.56%) as probable, 33 (36.67%) as possible, and 39 (43.33%) as unlikely FH.Conclusions:Prevalence of FH appears to be much higher among Indians with high LDL cholesterol. Therefore, it should not be ignored in individuals with high LDL cholesterol. To detect patients with FH, routine screening with simple DLCN criteria may be effectively used

Value of ultrasonography in diagnosing tendon xanthoma / 中华超声影像学杂志

Objective To evaluate the value of ultrasonography in diagnosing tendon xanthoma.Methods The ultrasonographic images of 17 patients with tendon xanthomas confirmed by surgery and pathology were retrospectively analyzed.The ultrasonographic features were summarized.Results The ultrasonographic images showed the location,number,size,shape,boundary,internal echo,involvement and blood supply of tendon xanthomas clearly.Tendon xanthomas showed hypoechoic masses within the tendons,mostly located on the extensor aspect of the hands,feet or bilateral Achilles tendons,symmetric growth,irregular-shaped and inhomogeneous,with loss of the normal fibrillar pattern in longitudinal plane.The abundant blood flow inside the tendon can be detected by color Doppler examination.Conclusions High frequency sonography is the preferred imaging method for diagnosis of tendon xanthomas.

A case report on cerebrotendinous xanthomatosis.

Cerebrotendinous xanthomatosis (CTX) is a rare hereditary neuro-metabolic disease in which deposition of cholesterol and cholestanol occurs in various tissues including CNS. It is characterized by juvenile cataract, tendon xanthomas and progressive neurological defects. It is one of a group of neurologic disorder collectively referred to as leukodystrophy, which predominantly affects the CNS white matter. We are presenting a patient with cerebrotendinous xanthomatosis, who is now 36 years old, and shows the natural course of disease in an untreated patient. He presented with xanthomas on Achilles tendon, elbow and knees and showed cerebellar and pyramidal signs. He had recurrent seizures and was mentally subnormal.

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.

A Case of Cerebrotendinous Xanthomatosis / 대한피부과학회지

Cerebrotendinous xanthomatosis is a rare, inherited lipid-storage disease clinically characterized by tendon xanthoma, progressive neurologic dysfunction(cerebellar ataxia, spinal cord involvement, mental retardation), premature atherosclerosis and cataracts. Substantial elevation of serum cholestanol and urinary bile alcohols with low to normal plasma cholesterol concentrations establishes the diagnosis. Up to now, there have not been any reported case of cerebrotendinous xanthomatosis in Korea. So, we report herein a 36-year-old Korean woman with the clinical features of cerebrotendinous xanthomatosis.

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.