Familial Hypercholesterolaemia

  • G. R. Thompson
Part of the NATO Advanced Study Institutes Series book series (NSSA, volume 15)


Familial Hypercholesterolaemia (FH), or familial type II hyperlipoproteinaemia (1), is inherited in an autosomal dominant manner and is characterised by abnormally high levels of low density lipoprotein (LDL or ß-lipoprotein) in plasma from birth. It has been estimated that FH affects 1:500 of the population of the United States of America and is responsible for 1:20 of all cases of myocardial infarction (2). Thus the disease is one of the commoner disorders inherited by humans and one which exerts a considerable toll in terms of premature morbidity and mortality. The current interest in attempting to reduce the prevalence of atherosclerosis in Western Countries has focussed attention on FH as a means of proving or disproving the lipid hypothesis of atherosclerosis. If the well-established relationship between hypercholesterolaemia and coronary heart disease is neither fortuitous nor due to some unknown third factor, then hypercholesterolaemia must either be a cause or a consequence of coronary heart disease. Since the hypercholesterolaemia of FH antedates the coronary heart disease by several years, it seems reasonable that the former causes the latter, and not vice versa. If so, effective reduction of hypercholesterolaemia in this monofactorial situation should result theoretically in regression of atherosclerosis, assuming that the atheromatous lesions in FH respond in an analagous manner to those which have been induced experimentally in monkeys and pigs (3, 4).


Coronary Heart Disease Plasma Exchange Cholesterol Synthesis Familial Hypercholesterolaemia Portacaval Shunt 


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Copyright information

© Plenum Press, New York 1978

Authors and Affiliations

  • G. R. Thompson
    • 1
  1. 1.Medical Research Council Lipid Metabolism UnitHammersmith HospitalLondonEngland

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