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Year : 1991  |  Volume : 57  |  Issue : 6  |  Page : 309-310

Homozygous familial hypercholesterolemia - A report of two cases and their treatment

Correspondence Address:
Bhushan Kumar

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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 2020 Sep 19];57:309-10. Available from:

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. [1],[2] Cases have been reported from amongst the Indian population too.[3],[4] 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. [5],[6],[7],[8],[9] 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. [9] 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 Top

1.Brown MS, Goldstein JL Familial hypercholesterolaemia : Genetic, biochemical and pathophysiologic considerations, Adv Intern Med,1975; 20 : 273.  Back to cited text no. 1    
2.Mayuchi H, Tatami R, Haba T, et al : Homozygous familial hypercholesterolaemia in Japan. Amer JMed, 1978; 290 : 65.  Back to cited text no. 2    
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.  Back to cited text no. 3    
4.Phillips T, Leigh IM Familial hypercholesterolaemia, J Roy Soc Med, 1987; 80 : 649-657.  Back to cited text no. 4    
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.  Back to cited text no. 5    
6.Thompson GR : The hyperlipidaemias, In : Uyod JK, Scriver CR (eds), Genetic and Metabolic dis­eases in paediatrics : Butterworth, London, 1985; 211-233.  Back to cited text no. 6    
7.Sanjurjo P, Martul P, $asieta M, et al : Treatment with probucol of children with familial hypercholesterolaemia, Acta Paediatr Scand, 1988; 77 : 132-135.  Back to cited text no. 7    
8.West RJ, Lloyd JK : Hypercholesterolaemia in childhood, Adv Paediatr, 1979; 26 : 1-34.  Back to cited text no. 8    
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.  Back to cited text no. 9    


[Table - 1]

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