Normal Total Cholesterol Levels Research Articles

Is a parental history of coronary arterial disease in children as discriminating as their lipoprotein profile?

The relationship between hyperlipidemia and a parental history of heart attack and other related disorders was studied in 2224 two- to 18-yr-old children in Madrid (Spain). Children were divided into three groups: those with a parental history of heart attack (first group), a parental history of stroke, hypertension, diabetes mellitus or hypercholesterolemia (second group), and no parental history of disease (third group). The number of children with higher than normal levels of total cholesterol (> 200 mg/dl), LDL-cholesterol (> 135 mg/dl) and/or apolipoprotein B100 (> 75 mg/dl) was significantly higher in the first and second group (positive parental history) than in the third (no parental history). Children and adolescents with a parental history of heart attack (first group) had significantly higher mean levels of total cholesterol and LDL-cholesterol; in the 2- to 13-yr age group a significantly higher level of apolipoprotein B was also found. Children and adolescents belonging to the second group had a significantly higher level of LDL-cholesterol, and a significantly higher level of apolipoprotein B was also found in the 2- to 13-yr age group. However, only 15% of children with hypercholesterolemia had a parental history of heart attack or other related disorders. This percentage was 41% when second-degree relatives were included in the family history. We conclude that a parental history is not enough to detect children with an abnormal lipid profile who might be at risk for early development of coronary arterial disease.

Familial defective apolipoprotein B 100: clinical characteristics of 54 cases

Familial defective Apolpoprotein B 100 (FDB) is a recently identified dominantly inherited genetic disorder, which is characterized by a decreased affinity of low density lipoprotein (LDL) for the LDL receptor. FDB is caused by a G to A mutation at nucleotide 10 708 in exon 26 of the apo B gene creating a substitution of glutamine for arginine in the codon for amino acid 3500. To determine the consequences of the arginine (3500) → glutamine mutation on plasma lipid levels and other clinical features, we have investigated 54 FDB heterozygotes from Germany (24 men, 30 women, mean age 37.2 (4–73) years). The average total cholesterol level in plasma was 308 mg/dl (average LDL-cholesterol 242 mg/dl), which was 116 mg/dl (120 mg/dl) above the 50th percentile of the age and sex-matched controls reported in the LRC population studies (Lipid Research Clinics' Program 1980). Tendon xanthoma and arcus lipoides were present in 25.9% and 22.2% of the patients, respectively. Plaques in the carotid arteries, determined by duplex scanning, were present in 38.9%, and coronary artery disease was present in 22.2%. This study shows that the combination of tendon xanthoma, arcus lipoides and premature atherosclerosis is no longer totally appropriate for the diagnosis of familial hypercholesterolemia (FH). It rather seems that these features are characteristic of a defective LDL receptor pathway, which could be caused by a defective LDL receptor or a defective ligand apo B 100. The distinction between FH and FDB may have therapeutic implications, because certain lipid lowering drugs act by stimulation of the LDL receptor, which has a normal function in FDB.

Plasma exchange versus an affinity column for cholesterol reduction

The recent introduction of low-density lipoprotein (LDL)/very low-density lipoprotein (VLDL) selective-removal systems offers an alternative to plasma exchange (PE). For the last 10 years, we have treated a male homozygous hypercholesterolemia type IIA patient with PE using 5% normal serum albumin (NSA) replacement, PE using 6% hydroxyethyl starch (HES) replacement, single dextran sulfate cellulose bead affinity column (DSAC) (Kaneka LA-40), and double DSAC. This report compares the performance of these systems in cholesterol reduction (total, LDL+VLDL, and high-density lipoprotein [HDL] and their effect on the total protein, albumin, and hematocrit levels. The number of procedures and average volume of plasma treated using PE-NSA, PE-HES, 1-DSAC, and 2-DSAC were 113, 64, 15, 90 and 3,939, 3,270, 3,519, and 3,588 ml, respectively. The average pretreatment total cholesterol levels were baseline 864 mg/dL, PE-NSA 606 mg/dL, PE-HES 610 mg/dL, 1-DSAC 467 mg/dL, and 2-DSAC 395 mg/dL with plasma reductions of 59%, 57%, 47%, and 55%, respectively. Average LDL+VLDL plasma reductions were PE-NSA 58%, PE-HES 59% (N = 1), 1-DSAC 46%, and 2-DSAC 56%. Average HDL plasma reductions were PE-NSA 58%, PE-HES 69% (N = 1), 1-DSAC 5%, and 2-DSAC 17%. The average total cholesterol and LDL+VLDL reductions were comparable for both types of PE and the 2-DSAC system. The average HDL loss was 53% lower for the DSAC systems than for PE systems.(ABSTRACT TRUNCATED AT 250 WORDS)

Studies on the effect of vanillin (food additive) on some metabolic reactions of the experimental animals

Vanillin (4-hydroxy-3-methoxybenzaldehyde) was administrated to hypercholesterolemic albino rats at low and high doses (1.0 and 2.0%, respectively) for nine weeks period. Lipid pattern, as well as liver and kidneys functions were determined in normal, hypercholesterolemic and hypercholesterolemic rats administrated vanillin. Hypercholesterolemia was characterized by significant increase in the average levels of total lipids, total cholesterol and triglycerides and a significant decrease in phospholipids content. Also, liver function (S.GOT, S.GPT, alkaline and acid phosphatase) as well as kidneys function were elevated compared to control group. Administration of vanillin significantly reduced liver and kidneys total lipids. Spleen and heart followed nearly the same trend but with moderate effect, while brain was not affected. Liver, kidneys, spleen and heart total cholesterol was significantly reduced while brain total cholesterol was not affected. Triglycerides were significantly decreased in liver and spleen, while that of kidneys and brain was not affected. Also, there was a significant decrease in the high activity of S.GOT, S.GPT, alkaline and acid phosphatase and the values were nearly attained to the initial level. Administration of vanillin exertes potent anabolic effects for protein metabolism as shown from the results of uric acid and creatinine.

Rationale and design of a secondary prevention trial of lowering normal plasma cholesterol levels after acute myocardial infarction: The cholesterol and recurrent events trial (CARE)

Recent clinical trials of primary and secondary prevention of cardiovascular disease have demonstrated that lowering plasma cholesterol decreases the incidence of coronary heart disease in patients with elevated plasma cholesterol. However, it is not known whether patients with established coronary artery disease and normal plasma cholesterol can be benefited. Several previous prevention trials reviewed in this report found that patients who had plasma cholesterol levels at baseline in the upper portion of the eligibility range (e.g., >240 mg/dl) received greater benefit from hypolipidemic diet or drug therapy than patients who had lower plasma cholesterol levels at baseline. The recent availability of drugs that are more potent and less prone to cause adverse reactions than previous regimens permits this important question to be addressed. The Cholesterol and Recurrent Events trial is testing whether pravastatin, a hydroxymethylglutaryl coenzyme A reductase inhibitor, will decrease the sum of fatal coronary heart disease and nonfatal myocardial infarction (MI) in patients who have recovered from a MI and who have normal total cholesterol levels. Fatal cardiovascular disease and total mortality are important secondary end points. The trial is enrolling 4,000 men and women from 80 centers throughout North America, age 21 to 75 years, who have survived MI for 3 to 20 months, who have plasma total cholesterol <240 mg/dl (6.2 mmol/ liter) and low-density cholesterol of 115 to 174 mg/dl (3.0 to 4.5 mmol/liter), and who are representative of the general population of patients with MI. Patients are randomized to either active or inactive drug therapy. Active therapy consists of pravastatin, 40 mg/day, designed to achieve an average decrease in low-density lipoprotein cholesterol of approximately 30%, and an increase in high-density lipoprotein of 5%. The average duration of follow-up will be ≥5 years. To protect against a lower than expected rate of recurrent events, the trial will be continued until a predetermined fixed number of coronary heart disease events occurs in the entire cohort so that the original sensitivity of the trial will be maintained.

The biochemical role and hypocholesterolaemic potential of the legume Cassia fistula in hypercholesterolaemic rats

The hypocholesterolaemic effect of Cassia fistula was investigated using hypercholesterolaemic male albino rats. Hypercholesterolaemia was induced by feeding on a mixture of cholesterol plus cholic acid for a 12 weeks period. Hypercholesterolaemia was characterized by significant increase in the average levels of total lipids, total cholesterol, and triglycerides and significant decrease in phospholipids content. Administration of Cassia fistula significantly reduced blood and liver total lipids. Brain, spleen, kidneys and heart followed nearly the same trend but with moderate effect. Blood, liver, kidneys, spleen and heart total cholesterol was significantly reduced, while that of brain was not affected. The level of triglycerides was markedly improved. There was a moderate rise, however, in phospholipids content in all studied organs. That is to say a marked progress in the correction of lipid metabolism occurred. Also, administration of Cassia fistula induced a significant decrease in the high activities of serum GOT, GPT, alkaline and acid phosphatase and the values nearly returned the initial values. Total serum protein, albumin (A), globulin (G), A/G, free amino acids, uric acid and creatinine were also determined and their values were improved and attained nearly the normal values of the control group.

Lipid and Apolipoprotein Profiles of Uremic Dyslipoproteinemia -Relation to Renal Function and Dialysis

To study the effect of renal function on the development of lipid and apolipoprotein abnormalities in human renal disease, we have investigated 75 patients at different stages of renal insufficiency. The patient population consisted of 19 patients with less advanced renal failure (CRF:1) characterized by a mean glomerular filtration rate (GFR) of 37.4 +/- 14 ml/min, 31 patients with advanced renal failure (CRF:2) having a mean GFR value of 7.9 +/- 7.3 ml/min and 25 patients on maintenance hemodialysis (CRF:HD). Patients in the CRF:1 group had normal plasma triglyceride (TG) and total cholesterol (TC) levels. In the CRF:2 and CRF:HD group, TG levels were increased two- to threefold, together with a moderate elevation of TC levels. All patient groups had elevated levels of VLDL cholesterol and slightly decreased levels of HDL cholesterol. The apolipoprotein profile of all patient groups was characterized by significantly reduced levels of apolipoprotein (Apo)A-I and ApoA-II and significantly increased levels of ApoC-III. CRF:2 and CRF:HD patients had also moderately elevated levels of ApoB, ApoC-I and ApoC-II. Levels of ApoE were only elevated in CRF:HD patients. All patients, regardless of TG levels, had significantly lower ApoA-I/ApoC-III ratios than controls. GFR was positively correlated with ApoA-I and inversely correlated with TC, TG and ApoC-III. CRF:HD patients had slightly higher ApoA-I and ApoA-II and lower ApoB levels compared to CRF:2 patients. Patients with vascular disease had higher TC, TG, ApoB, ApoC-II and ApoE than patients without vascular disease. These results demonstrate that the dyslipoproteinemia with CRF is already manifested at the early stages of disease through its abnormal apolipoprotein rather than lipid profile.

TOTAL AND HDL CHOLESTEROL AND THEIR CORRELATES IN ELDERLY MEN IN FINLAND, ITALY, AND THE NETHERLANDS

In 1984 and 1985, 25-year follow-up studies were carried out in the Italian, Finnish, and Dutch cohorts of men originally examined around 1960 in the Seven Countries Study. Risk factors for coronary heart disease were determined in 2,255 men aged 65-84 years. The average serum total cholesterol levels of the elderly men in Finland and the Netherlands were similar, at around 236 mg/dl (6.10 mmol/liter). The average serum total cholesterol levels of the elderly men in Italy were about 10 mg/dl (0.26 mmol/liter) lower. During 25 years of follow-up, the average serum total cholesterol level increased by 29 mg/dl (0.75 mmol/liter) among the Italian survivors, decreased by 23 mg/dl (0.59 mmol/liter) in the Finnish survivors, and did not change in the Dutch survivors. Age, Quetelet index, and coffee consumption were the most important correlates of total cholesterol in these elderly men. Quetelet index, alcohol consumption, age, and cigarette smoking were significantly associated with high density lipoprotein (HDL) cholesterol. The results of this study suggest that modifiable risk factors are related to total and HDL cholesterol in elderly men in different cultures.

Isolated low HDL-cholesterol as an important risk factor for coronary heart disease

Decreased levels of high density lipoprotein (HDL)-cholesterol are found in patients with hypertriglyceridaemia and in patients who have inherited disorders associated with premature coronary heart disease. Hereditary conditions associated with low levels of HDL-cholesterol and normal total cholesterol levels include familial hypoalphalipoproteinaemia, Tangier disease, fish eye disease, and lecithin: cholesterol acyltransferase deficiency. Secondary causes of low HDL-cholesterol levels include any condition that affects liver metabolism. A recent study of patients with coronary artery disease (CAD) who had normal levels of low density lipoprotein cholesterol and total cholesterol revealed that two-thirds of the men and four-fifths of the women had low HDL-cholesterol levels, suggesting that low HDL-cholesterol may be more prevalent than previously suspected. The high incidence of isolated hypoalphalipoproteinaemia in this group indicates that HDL-cholesterol measurements should be performed on all patients with CAD, regardless of their total cholesterol levels.

Plasma lipoproteins in infantile visceral Leishmaniasis: deficiency of apolipoproteins A-I and A-II

This study describes the plasma lipoprotein system of young children with visceral Leishmaniasis (Kala-azar disease). In addition to the presence of amastigote forms in the sternal aspirates of bone marrow, the patients exhibited fever, anemia, hepatosplenomegaly, various degrees of pancytopenia and a slight liver cytolysis. Patients had normal total cholesterol levels and increased triglyceride levels in the plasma. The concentrations of HDL and LDL were 30% and 50% of these reported for normolipemic subjects, respectively. In contrast, there was a three-fold increase in the concentration of VLDL. The ratio of free to total cholesterol was high; this was further substantiated by electron microscopy of HDL showing the presence of disc-like particles. Quantitative determination of apolipoproteins revealed a three-and seven-fold decrease of apolipoproteins (Apo) A-I and A-II, respectively, whereas Apo B levels were within the normal range. The presence of LP-A-II particles was demonstrated by two-dimensional immunoelectrophoresis in most of the patients' plasma during the acute phase of disease.

Genetics of the quantitative Lp(a) lipoprotein trait

Apolipoprotein(a) [apo(a)] is a large serum glycoprotein with several genetically determined isoforms differing in their apparent molecular weight. We determined the effects of the apo(a) isoforms on total cholesterol, high-density lipoprotein (HDL)-cholesterol, lipoprotein(a), and triglyceride levels in a sample of 473 unrelated Tyrolean adults. Average lipoprotein(a) and total cholesterol levels were significantly different among apo(a) types. These significant differences were found among the 13 apo(a) isoform patterns observed in this sample and among several logical subsets of the isoform patterns (e.g. considering only the single band types). The data suggest that the effects of apo(a) alleles on Lp(a) levels are additive. The effects of apo(a) on total cholesterol levels cannot be entirely explained by the cholesterol fraction estimated to be contained in the lipoprotein(a) particle. We estimate that the apo(a) glycoprotein polymorphism accounts for 41.9% and 9.6% of the variability in lipoprotein(a) and total cholesterol levels, respectively. This is the strongest effect of a single polymorphic gene on plasma lipid and lipoprotein levels reported so far.

Phenotypic effects of apolipoprotein structural variation on lipid profiles. IV. Apolipoprotein polymorphisms in a small group of black women from the healthy women study.

Structural variation in apolipoprotein E has been shown to influence lipid and lipoprotein concentrations. The purpose of the present study was to investigate several apolipoproteins in a group of Black women from the Healthy Women Study (HWS). HWS is a community-based prospective study of 541 premenopausal women who are being followed through the menopause to determine the influence of biological, genetic, and psychosocial phenomenon on cardiovascular risk factors. Of the 541 subjects, 48 are Black. Serum from most of these 48 Black women was used to type seven apolipoproteins (APO A-I, APO A-II, APO A-IV, APO C-II, APO D, APO E, and APO H). Five of these apolipoproteins are polymorphic in Blacks (APO A-IV, APO C-II, APO D, APO E and APO H). Only two and three individuals, respectively, were heterozygous at the APO D and APO C-II loci. APO A-IV, E, and H exhibited more variation, however, only APO E phenotypes could be used for statistical analyses. Three common phenotypes, APO E 3-2, APO E 3-3, and APO E 4-3, were used in analysis of variance on four quantitative lipid variables. Despite small numbers, the effect of APO E phenotype was apparent. The APO E 3-2 phenotype showed reduced average levels of total cholesterol, apolipoprotein B (APO B) and low-density lipoprotein cholesterol (LDLc), and the APO E 4-3 phenotype showed increased levels (P less than or equal to .0497). The APO E3-3 homozygote was intermediate on all three. Because of small numbers in the cells of APO A-IV and APO H phenotypes, these were not analyzed with respect to quantitative lipids.

Trends in CHD Mortality, Morbidity and Risk Factor Levels from 1960 to 1986: The Minnesota Heart Survey

The Minnesota Heart Survey (MHS) assessed population trends in coronary heart disease (CHD) mortality, morbidity and risk factor levels in the Twin Cities metropolitan area to explain the decline in CHD deaths. Age-adjusted CHD mortality rates declined in Twin Cities residents aged 30 to 74 from 1968 to 1986 by 52% in men and 58% in women. Much of the decline in CHD mortality was attributable to decreased out-of-hospital deaths. Attack rates based on hospitalized definite myocardial infarction (MI) did not change from 1970 to 1985, and hospital case-fatality rates declined consistently from 1970 to 1985 (from 21% to 11% in men, from 27% to 17% in women). Dramatic increases were noted in the percentage of patients undergoing cardiac procedures (coronary artery bypass, angioplasty, and thrombolytic agents). Trends in CHD rates were associated with improved population levels of risk factors. Average serum total cholesterol levels decreased by 8 mg/dl and 11 mg/dl between 1973 and 1987 in men and women, respectively. Cigarette smoking prevalence declined from approximately 40% to 30%. Average systolic blood pressure apparently declined about 1 mm Hg and diastolic blood pressure by 2 mm Hg from 1973 to 1987. Body mass index (wt/ht2) increased by 1 unit in men and 1.7 units in women from 1973 to 1987. These data suggest that a combination of primary prevention and improved medical care of acute CHD contributed to the decline in CHD mortality.

Educational attainment and nutrient consumption patterns: The Minnesota Heart Survey

To explore whether dietary patterns differ according to educational attainment, we examined the associations of nutrient intake with educational level in a sample of 825 male and 893 female Twin Cities (Minneapolis and St. Paul) residents aged 25 to 74 years who were surveyed between 1980 and 1982. Of particular interest was the pattern of macronutrient consumption, since the proportion of fat and type of fat in the diet is thought to be related to the development of chronic disease. Estimates of nutrient intake were based on 24-hour dietary recalls, while information on education was obtained through interview. Educational attainment was positively associated with nutrient consumption patterns that may decrease risk of chronic disease for both men and women. For women, the proportion of dietary fat was less (p=.03) and carbohydrate greater (p=.004) with increasing education. For men, the Keys dietary score decreased as education increased (p=.05) (high scores indicate greater blood cholesterol-raising effect of the diet). Inverse associations of average total serum cholesterol level with education in both men (p=.02) and women (p=.06) support these dietary associations. These results suggest that educational attainment is related positively to eating patterns that may carry a decreased risk of cardiovascular and other chronic disease. Whether or not this association is causal, it would appear to point to a need for more effective nutrition education strategies for those with less education. J Am Diet Assoc 88:1230, 1988.

Human apolipoprotein A-IV polymorphism: frequency and effect on lipid and lipoprotein levels

Human apolipoprotein (apo) A-IV is genetically polymorphic, the apo A-IV polymorphism being controlled by two common alleles, A-IV1 and A-IV2. We have developed a method for typing the apo A-IV polymorphism by Western blotting using polyclonal rabbit antiapo A-IV as the first and gold-labeled antirabbit IgG as the second antibody. Apolipoprotein phenotypes were determined in plasma samples from 473 tiroleans. The frequencies of the apo A-IV alleles in this sample were f(A-IV1) = 0.919, f(A-IV2) = 0.077, and f(A-IV3) = 0.004. Although average triglyceride levels were lower in apo A-IV 2-1 heterozygotes, average total serum cholesterol and triglyceride levels were not significantly different among apo A-IV types. High density lipoprotein (HDL) cholesterol was significantly increased in individuals with the A-IV 2-1 phenotype. We estimate that genetic variation at the apo A-IV gene locus accounts for 11% of the total variability in HDL-cholesterol levels in Tiroleans. The effects of the apo A-IV polymorphism described here are consistant with, and may serve to enrich, our limited knowledge of the role of apo A-IV in lipid metabolism.

The Effect of Triton WR‐1339 on Lipid Metabolism in Mice

AbstractThe hyperlipemia and hypercholesterolemia were induced in mice by injection (i.p.) of a single dose of Triton WR‐1339 at a dosage of 900 mg/kg body weight. These animals were characterized by significant increases in the average levels of plasma total lipids, cholesterol, phospholipids and triglycerides. The highest rise of each fraction was after 24 hr. of triton injection. Plasma total lipids and cholesterol levels were increased to 10‐fold and phospholipids to 8‐fold while triglycerides reached to 14‐fold when compared to control animals. This hyperlipemic state was associated with the appearance of fatty nodules in liver tissue. These nodules were found to be lipoproteins which were collected in bags by the liver cells. The blood glucose level was slightly elevated after triton injection while liver and muscle glycogen contents were highly increased and the highest levels were recorded after32 hr. of triton injection. Triton also reduced the activity of liver lipogenesis dehydrogenases. Maximum reduction in 6‐phosphogluconic dehydrogenase (6‐PGD) and malate dehydrogenase was found after 8 hr. of triton injection but found after 16 hr. for glucose‐6‐phosphate dehydrogenase (G‐6‐PD). After 24 and 32 hr. the enzyme activities were elevated but still below the normal levels. The mechanism of triton injection on lipid metabolism and turnover in mice was also discussed.

Frequency and extent of calcific deposits in purely regurgitant mitral valves: Analysis of 108 operatively excised valves

Operatively excised purely regurgitant mitral valves in 108 patients aged 21 to 73 years (mean 55) (63% men) undergoing isolated mitral valve replacement were examined for calcific deposits. Of the 108 patients, 19 (18%) had leaflet or chordal calcific deposits or both, but in each the deposits were small and did not appear to alter mitral function. Of the 19 patients with mitral calcium, 6 had had active infective endocarditis and the calcium likely represented healed vegetations; In 6 other patients, the leaflet calcium had extended from the mitral anulus in the setting of mitral valve prolapse. The average total serum cholesterol levels were higher in the patients with compared with those without mitral calcium. Thus, calcium deposits are relatively infrequent in adults with clinically isolated pure mitral regurgitation, and when they occur, the deposits are small and in themselves do not appear to contribute to mitral dysfunction.

Plasma lipid and lipoprotein concentrations in an Egyptian male sample.

The distributions of plasma total cholesterol and triglyceride levels as well as plasma lipoprotein abnormalities were studied in 50 Egyptian males aged 20-69 years. Total cholesterol increased gradually with advancing age up to the seventh decade. In contrast, triglycerides peaked in the fifth decade, then declined. Type IV lipoprotein pattern was the most common abnormality (12%). Type II was less common (2.0%). Types I, III and V were not encountered. The mean plasma triglyceride and cholesterol levels were not markedly different from similar studies done on non-Arab populations. The high incidence of hyperlipidemia among this group is worth noting, especially in the search for the coronary-prone, since all of the type IV group had normal total cholesterol levels.

Symptomatic Coronary Artery Disease in a Marathon Runner

A highly trained marathon runner had progressive angina pectoris. His exercise stress test showed ischemia, and selective coronary angiography demonstrated a 99% obstruction of the left anterior descending coronary artery. A lipid analysis revealed normal total serum cholesterol levels with elevated high-density lipoprotein and markedly decreased low-density lipoprotein fractions. The remaining risk factors for coronary artery atherosclerosis were also absent. Unlike previous reports of ischemic heart disease in runners, in which the level of conditioning has been low, the duration of running brief, the risk factors operative, or the documentation weak, this patient represents unequivocal evidence that a long-distance marathon runner's life-style is not necessarily protective against the progression of coronary atherosclerosis. ( JAMA 1982;248:717-719)

HYPERAPOBETALIPOPROTEINAEMIA IN TWO FAMILIES WITH XANTHOMAS AND PHYTOSTEROLAEMIA

The death of a 13-year-old boy from coronary atherosclerosis prompted the study of an Amish family. Five of his twelve sibs had tendon and tuberous xanthomas, and increased plasma plant sterols, particularly β-sitosterol. The plasma level of the major apoprotein of low density lipoprotein (LDL), the B protein, was very high (mean 173 mg/dl) in these five sibs, while the LDL cholesterol level was moderately increased (209 mg/dl). Four other sibs and both parents had an increased LDL B protein level with a normal or mildly raised plasma total and LDL cholesterol level (hyperapobetalipoproteinaemia). Evidence for coronary artery disease was found in both parents and three xanthomatous sibs. The original family with β-sitosterolaemia and xanthomatosis, described in 1974, was re-examined. The proband and her sister had persistent phytosterolaemia and normocholesterolaemia but increased LDL B protein levels. Both parents, two uncles, and three of four grandparents had increased LDL B protein levels and normal total and LDL cholesterol levels. The proband's father had atypical angina pectoris. People with the full syndrome (phytosterolaemia, xanthomas, and hyperapobetalipoproteinaemia) are most probably homozygous for a mutant allele. An increased LDL B protein level permits the identification of heterozygotes in these families, even though in the fasting state they show no phytosterolaemia. The homozygote and probably the heterozygote are at increased risk for cardiovascular atherosclerotic disease.