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The challenge produced by familial homozygous hypercholesterolemia when treating premature coronary arterial disease in the young

  • Ravindranath K. Shankarappa (a1), Nagaraja Moorthy (a1), Seetharama P. S. Bhat (a2), Ramesh Dwarakaprasad (a1) and Manjunath C. Nanjappa (a1)...



Familial hypercholesterolemia is a monogenic, autosomal dominant disorder caused by mutations in the LDL receptor gene. Familial homozygous hypercholesterolemia results when both the alleles have the defective mutation. It is characterized by cutaneous and tendinous xanthomas, premature corneal arcing, and is associated with an increased risk of coronary arterial disease. It is also seriously underdiagnosed, resulting in delayed treatment.


We present a cross-sectional study of 5 patients with familial homozygous hypercholesterolemia who presented to the department of cardiology at Sri Jayadeva Institute of Cardiology, Bangalore, India. All of them underwent coronary angiography as part of the investigation of their angina.


All 5 patients were in 2nd or 3rd decade of life, 4 being male, and 4 presenting with effort angina, the other having unstable angina. All had multiple tendinous xanthomas. The majority had significant high grade coronary arterial stenosis. Coronary arterial bypass grafting was necessary in 3, with the others undergoing percutaneous insertion of coronary arterial stents.


Familial homozygous hypercholesterolemia is a potentially dangerous risk factor that can result in premature coronary arterial disease in children and young adults. This can result in severe morbidity and premature death in young individuals. We also emphasise the need to screen first-degree relatives and extended family members, this playing an important role in early detection and treatment. Despite recent advances in treatment using lipid lowering agents, the disease remains a significant challenge.


Corresponding author

Correspondence to: Dr Ravindranath Khandenahalli Shankarappa, Department of Cardiology, Sri Jayadeva Institute of Cardiology, Jayanagar 9th Block, Bangalore 560069, India. Tel:+91 9448086070; Fax: +91 80 26534477; E-mail:


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1. Sprecher, DL, Schaefer, EJ, Kent, KM, et al. Cardiovascular features of homozygous familial hypercholesterolemia: analysis of 16 patients. Am J Cardiol 1984; 54: 2030.
2. Allen, JM, Thompson, GR, Myant, NB, Steiner, R, Oakley, CM. Cardiovascular complications of homozygous familial hypercholesterolemia. Br Heart J 1980; 44: 361368.
3. Mabuchi, H, Koizumi, J, Shimizu, M, et al. Development of coronary heart disease in familial hypercholesterolemia. Circulation 1989; 79: 225332.
4. Goldstein, JL, Brown, MS. Familial hypercholesterolemia. In: Stanbury JB, Wyngaarden JB, Fredrickson DS, Goldstein JL, Brown MS (eds). The Metabolic Basis of Inherited Disease, 5 edn. McGraw-Hill Book Co, New York, 1983, p 672.
5. Thompson, GR, Lowenthal, R, Myant, NB. Plasma exchange in the management of homozygous familial hypercholesterolemia. Lancet 1975; 1: 12081211.
6. Bilheimer, DW, Goldstein, JL, Grundy, SM, Starzl, TE, Brown, MS. Liver transplantation to provide low-density lipoprotein receptors and lower plasma cholesterol in a child with homozygous familial hypercholesterolemia. N Engl J Med 1984; 311: 16581664.
7. Starzl, TE, Chase, HP, Ahrens, EH Jr, et al. Portacaval shunt in patients with familial hypercholesterolemia. Ann Surg 1983; 198: 273283.
8.WHO. Human Genetic Program. Familial Hypercholesterolemia. Report of a WHO consultation. WHO/HGN/FH/CONS/98.7 Paris; October 1997.
9. Celermajer, DS, Sorensen, KE, Gooch, VM, et al. Non-invasive detection of endothelial dysfunction in children and adults at risk of atherosclerosis. Lancet 1992; 340: 11111115.
10. Stroes, E, Kastelein, JJP, Cosentino, F, et al. Tetrahydrobiopterin restores endothelial function in hypercholesterolemia. J Clin Invest 1997; 99: 4146.
11. Virkola, K, Pesonen, E, Åkerblom, HK, et al. Cholesterol and carotid artery wall in children and adolescents with familial hypercholesterolemia: a controlled study by ultrasound. Acta Pediatr 1997; 86: 12031207.
12. Wiegman, A, Rodenburg, J, Gort, J, et al. B-mode ultrasound measurements of carotid artery walls in children with molecular proven familial hypercholesterolemia and their unaffected siblings. Circulation 2001; 104 (Suppl II): II-526. Abstract.
13. Mabuchi, H, Tatami, R, Haba, T, et al. Homozygous familial hypercholesterolemia in Japan. Am J Med 1978; 65: 290297.


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