|Year : 1991 | Volume
| Issue : 6 | Page : 309-310
Homozygous familial hypercholesterolemia - A report of two cases and their treatment
Bhushan Kumar, R Sharma, M Rajagopalan
Source of Support: None, Conflict of Interest: None
|How to cite this article:|
Kumar B, Sharma R, Rajagopalan M. Homozygous familial hypercholesterolemia - A report of two cases and their treatment. Indian J Dermatol Venereol Leprol 1991;57:309-10
|How to cite this URL:|
Kumar B, Sharma R, Rajagopalan M. Homozygous familial hypercholesterolemia - A report of two cases and their treatment. Indian J Dermatol Venereol Leprol [serial online] 1991 [cited 2019 Oct 20];57:309-10. Available from: http://www.ijdvl.com/text.asp?1991/57/6/309/3718
Familial hypercholesterolemia (Type Ila of the Fredrickson classification) is inherited as an autosomal -dominant disorder of lipid metabolism. Homozygotes of this disease have been reported at the rate of about 1 in-1 million from Western and oriental races. , Cases have been reported from amongst the Indian population too., We report two patients including their successful therapy with Gemfibrozil as shown by lowering of lipid levels.
Two unrelated boys, aged 3.5 and 4 years presented with yellowish nodules on the legs, buttocks and elbows for 6 and 3 months respectively. Both were born off non-consanguineous marriages. Both had arcus juvenilia, as did their fathers. Their lipidograms showed raised levels of serum cholesterol, serum triglycerides, low density lipoproteins, very low density lipoproteins and high density lipoproteins [Table - 1]. Histopathological examination of the nodules showed these to be xanthomas.
Both the children were advised cholesterol restricted diet and put on gemfibrozil, 300 mg twice daily to be taken one hour before meals. They tolerated the drug well. Repeat lipidogram after 2 months of therapy revealed a fall in the raised lipid and lipoprotein levels [Table - 1].
Parents of both the children but for the mother of case 1 were found to have considerably elevated levels of serum cholesterol.
Management of familial hyper-cholesterolemia patients, especially homozygotes has been a challenging job. A number of therapies have been advocated and early institution of such therapy may increase the long term survival rates. ,,,, Our patients responded well to cholesterol restriction and gemfibrozil as revealed by their pre and post treatment lipidograms. Gemfibrozil is effective in patients with type Ila, Ilb and IV hyperlipidemia.  It lowers total and LDL cholesterol and triglycerides by 10-11% and 35% respectively. Both our patients had a predicted fall in the values. Though there was a fall in HDL levels in contrast to the reported rise, the HDL to cholesterol ratio was higher with gemfibrozil. That this would delay or prevent the onset of coronary artery disease in our patients over long period is to be seen.
| References|| |
|1.||Brown MS, Goldstein JL Familial hypercholesterolaemia : Genetic, biochemical and pathophysiologic considerations, Adv Intern Med,1975; 20 : 273. |
|2.||Mayuchi H, Tatami R, Haba T, et al : Homozygous familial hypercholesterolaemia in Japan. Amer JMed, 1978; 290 : 65. |
|3.||Bal.achandran C, Parameshwara YR, Srinivas CR, et al : Homozygous familial hypercholesterolaemia in an infant with cutaneous xanthomatosfs, Indian J Dermatol Venereol Leprol, 1990; 56 : 336-337. |
|4.||Phillips T, Leigh IM Familial hypercholesterolaemia, J Roy Soc Med, 1987; 80 : 649-657. |
|5.||Fredrickshon DS, Lees RS : Familial hyperlipoproteinaemia, In : Stansbury JS, Wijngaarden JB, Fredrickson DS (eds). The metabolic basis of inherited disease, McGraw-Hill, New York, 1972; 545-614. |
|6.||Thompson GR : The hyperlipidaemias, In : Uyod JK, Scriver CR (eds), Genetic and Metabolic diseases in paediatrics : Butterworth, London, 1985; 211-233. |
|7.||Sanjurjo P, Martul P, $asieta M, et al : Treatment with probucol of children with familial hypercholesterolaemia, Acta Paediatr Scand, 1988; 77 : 132-135. |
|8.||West RJ, Lloyd JK : Hypercholesterolaemia in childhood, Adv Paediatr, 1979; 26 : 1-34. |
|9.||Lavie CJ, Gau GT, Squires RW, et al : Management of lipids in primary and secondary prevention of cardiovascular diseases, Mayo Clin Proc, 1988; 63 : 605-621. |
[Table - 1]
|This article has been cited by|
||Lipid toxicity secondary to antiretroviral drugs in pediatric patients
| ||González Montero, R., Moreno Pérez, D., Conejo Rojo, P. |
| ||Nutrition and Metabolic Disorders in HIV Infection. 2006; 5(4): 1028-1035 |