0
ARTICLE |

Familial Hypercholesterolemia: Title and subTitle BreakThere Is a Need for Early Detection and Treatment FREE

David W. Bilheimer, MD
JAMA. 1987;257(1):69-70. doi:10.1001/jama.1987.03390010073032
Text Size: A A A
Published online

Familial hypercholesterolemia (FH) is a metabolic disorder that causes premature artherosclerosis.1 It is transmitted as an autosomal dominant trait, and both heterozygous and homozygous forms of the disease are recognized. The gene frequency for heterozygous FH in the general population is estimated to be one in 500, making it one of the most common simply inherited disorders in man. The hypercholesterolemia results from the excess accumulation of low-density lipoprotein (LDL) in the plasma. The sustained elevation of the LDL-cholesterol level then promotes the development of premature atherosclerosis and xanthoma formation in the tendons and skin. Heterozygotes have LDL-cholesterol levels twofold to threefold above normal and begin experiencing myocardial infarctions in the fourth decade of life. Homozygotes are much more severely affected, having LDL-cholesterol levels sixfold to eightfold above normal and experiencing myocardial infarctions in the first or second decades of life.

The pathophysiology of FH is now well understood,

REFERENCES

Goldstein JL, Brown MS:  Familial hypercholesterolemia , in Stanbury JB, Wyngaarden JB, Fredrickson DS, et al (eds): The Metabolic Basis of Inherited Disease , ed 5. New York, McGraw-Hill International Book Co, 1983;, pp 672-712.
Brown MS, Goldstein JL:  A receptor-mediated pathway for cholesterol homeostasis . Science 1986;;232:34-47.
Bilheimer DW, Stone NJ, Grundy SM:  Metabolic studies in familial hypercholesterolemia: Evidence for a gene-dosage effect in vivo . J Clin Invest 1979;;64:524-533.
Shepherd J, Bicker S, Lorimer AR, et al:  Receptor-mediated low density lipoprotein catabolism in man . J Lipid Res 1979;;20:999-1006.
Bilheimer DW, Grundy SM, Brown MS, et al:  Mevinolin and colestipol stimulates receptor-mediated clearance of low density lipoprotein from plasma in familial hypercholesterolemia heterozygotes . Proc Natl Acad Sci USA 1983;; 80:4124-4128.
Bilheimer DW, Grundy SM, Brown MS, et al:  Mevinolin stimulates receptor-mediated clearance of low density lipoprotein from plasma in familial hypercholesterolemia heterozygotes . Trans Assoc Am Physicians 1983;;96:1-9.
Bilheimer DW, Goldstein JL, Grundy SM, et al:  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: 1658-1664.
 Lipid Research Clinics Program: The Lipid Research Clinics Coronary Primary Prevention Trial results: I. Reduction in incidence of coronary heart disease . JAMA 1984;;251:351-364.
 Lipid Research Clinics Program: The Lipid Research Clinics Coronary Primary Prevention Trial results: II. The relationship of reduction in incidence of coronary heart disease to cholesterol lowering . JAMA 1984;;251:365-374.
Illingsworth DR:  Mevinolin plus colestipol in therapy for severe heterozygous familial hypercholesterolemia . Ann Intern Med 1984;;101:598-604.
Grundy SM, Vega GL, Bilheimer DW:  Influence of combined therapy with mevinolin and interruption of bile-acid reabsorption on low density lipoproteins in heterozygous familial hypercholesterolemia . Ann Intern Med 1985;;103:339-343.
 Lovastatin Study Group II: Therapeutic response to lovastatin (mevinolin) in nonfamilial hypercholesterolemia: A multicenter study . JAMA 1986;;256: 2829-2834.

Figures

Tables

Interactive Graphics

Video

Country-Specific Mortality and Growth Failure in Infancy and Yound Children and Association With Material Stature

Use interactive graphics and maps to view and sort country-specific infant and early dhildhood mortality and growth failure data and their association with maternal

Goldstein JL, Brown MS:  Familial hypercholesterolemia , in Stanbury JB, Wyngaarden JB, Fredrickson DS, et al (eds): The Metabolic Basis of Inherited Disease , ed 5. New York, McGraw-Hill International Book Co, 1983;, pp 672-712.
Brown MS, Goldstein JL:  A receptor-mediated pathway for cholesterol homeostasis . Science 1986;;232:34-47.
Bilheimer DW, Stone NJ, Grundy SM:  Metabolic studies in familial hypercholesterolemia: Evidence for a gene-dosage effect in vivo . J Clin Invest 1979;;64:524-533.
Shepherd J, Bicker S, Lorimer AR, et al:  Receptor-mediated low density lipoprotein catabolism in man . J Lipid Res 1979;;20:999-1006.
Bilheimer DW, Grundy SM, Brown MS, et al:  Mevinolin and colestipol stimulates receptor-mediated clearance of low density lipoprotein from plasma in familial hypercholesterolemia heterozygotes . Proc Natl Acad Sci USA 1983;; 80:4124-4128.
Bilheimer DW, Grundy SM, Brown MS, et al:  Mevinolin stimulates receptor-mediated clearance of low density lipoprotein from plasma in familial hypercholesterolemia heterozygotes . Trans Assoc Am Physicians 1983;;96:1-9.
Bilheimer DW, Goldstein JL, Grundy SM, et al:  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: 1658-1664.
 Lipid Research Clinics Program: The Lipid Research Clinics Coronary Primary Prevention Trial results: I. Reduction in incidence of coronary heart disease . JAMA 1984;;251:351-364.
 Lipid Research Clinics Program: The Lipid Research Clinics Coronary Primary Prevention Trial results: II. The relationship of reduction in incidence of coronary heart disease to cholesterol lowering . JAMA 1984;;251:365-374.
Illingsworth DR:  Mevinolin plus colestipol in therapy for severe heterozygous familial hypercholesterolemia . Ann Intern Med 1984;;101:598-604.
Grundy SM, Vega GL, Bilheimer DW:  Influence of combined therapy with mevinolin and interruption of bile-acid reabsorption on low density lipoproteins in heterozygous familial hypercholesterolemia . Ann Intern Med 1985;;103:339-343.
 Lovastatin Study Group II: Therapeutic response to lovastatin (mevinolin) in nonfamilial hypercholesterolemia: A multicenter study . JAMA 1986;;256: 2829-2834.
CME Course for:


You need to register in order to view this quiz.


To understand the clinical management of acute heart failure syndromes.
Accreditation Information The American Medical Association is accredited by the Accreditation Council for Continuing Medical Education to provide continuing medical education for physicians.
The AMA designates this journal-based CME activity for a maximum of 1 AMA PRA Category 1 CreditTM per course. Physicians should claim only the credit commensurate with the extent of their participation in the activity.
Physicians who complete the CME course and score at least 80% correct on the quiz are eligible for AMA PRA Category 1 CreditTM.
Note: You must get at least of the answers correct to pass this quiz.
Note: You must get at least of the answers correct to pass this quiz.
You have not filled in all the answers to complete this quiz
The following questions were not answered:
Sorry, you have unsuccessfully completed this CME quiz with a score of
The following questions were not answered correctly:
For CME Course: A Proposed Model for Initial Assessment and Management of Acute Heart Failure Syndromes
Indicate what changes(s) you will implement in your practice, if any, based on this CME course.
To view and print your certificate and access a summary of your CME courses go to My CME.
NOTE:
Citing articles are presented as examples only. In non-demo SCM6 implementation, integration with CrossRef’s “Cited By” API will populate this tab (http://www.crossref.org/citedby.html).
Submit a Response

Some tools below are only available to our subscribers or users with an online account.

Related Content

Customize your page view by dragging & repositioning the boxes below.