Document Detail


The challenge produced by familial homozygous hypercholesterolemia when treating premature coronary arterial disease in the young.
MedLine Citation:
PMID:  19344536     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
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.
Authors:
Ravindranath K Shankarappa; Nagaraja Moorthy; Seetharama P S Bhat; Ramesh Dwarakaprasad; Manjunath C Nanjappa
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Publication Detail:
Type:  Case Reports; Journal Article     Date:  2009-04-06
Journal Detail:
Title:  Cardiology in the young     Volume:  19     ISSN:  1467-1107     ISO Abbreviation:  Cardiol Young     Publication Date:  2009 Jun 
Date Detail:
Created Date:  2009-05-11     Completed Date:  2009-10-15     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  9200019     Medline TA:  Cardiol Young     Country:  England    
Other Details:
Languages:  eng     Pagination:  257-63     Citation Subset:  IM    
Affiliation:
Department of Cardiology, Sri Jayadeva Institute of Cardiology, Jayanagar 9th Block, Bangalore, India. drnagaraj_moorthy@yahoo.com
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MeSH Terms
Descriptor/Qualifier:
Adolescent
Angina Pectoris / complications*,  diagnosis
Child
Coronary Angiography
Coronary Artery Bypass
Coronary Artery Disease / etiology
Coronary Stenosis / diagnosis,  etiology*,  therapy
Cross-Sectional Studies
Drug-Eluting Stents
Genetic Predisposition to Disease*
Homozygote
Humans
Hyperlipoproteinemia Type II / complications*,  genetics
India
Male
Risk Factors
Treatment Outcome
Xanthomatosis / etiology
Young Adult

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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