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

Published online by Cambridge University Press:  06 April 2009

Ravindranath K. Shankarappa ,
Nagaraja Moorthy ,
Seetharama P. S. Bhat ,
Ramesh Dwarakaprasad  and
Manjunath C. Nanjappa
Ravindranath K. Shankarappa*
Affiliation:
Department of Cardiology, Sri Jayadeva Institute of Cardiology, Bangalore, India
Nagaraja Moorthy
Affiliation:
Department of Cardiology, Sri Jayadeva Institute of Cardiology, Bangalore, India
Seetharama P. S. Bhat
Affiliation:
Department of Cardiothoracic and Vascular Surgery, Sri Jayadeva Institute of Cardiology, Bangalore, India
Ramesh Dwarakaprasad
Affiliation:
Department of Cardiology, Sri Jayadeva Institute of Cardiology, Bangalore, India
Manjunath C. Nanjappa
Affiliation:
Department of Cardiology, Sri Jayadeva Institute of Cardiology, Bangalore, India
*
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: drnagaraj_moorthy@yahoo.com
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Abstract

Background

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.

Methods

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.

Results

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.

Conclusion

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.

Keywords

Premature atherosclerosistendon xanthomasmyocardial infarctioncorneal arcing
Type
Original Article
Information
Cardiology in the Young , Volume 19 , Issue 3 , June 2009 , pp. 257 - 263
Copyright
Copyright © Cambridge University Press 2009

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