Abnormal autonomic control of the cardiovascular system in syndrome X

Anomalies of autonomic control of the coronary circulation may play a role in the development of syndrome X (angina pectoris, ischemia-appearing results on exercise test, and normal coronary arteriograms). Twenty-six patients with syndrome X and 20 healthy sex- and age-matched control subjects were studied by means of analysis of heart rate variability during 24-hour Hotter monitoring. Spectral and nonspectral parameters of heart rate variability were investigated. Mean heart rate was similar in patients with syndrome X and in control subjects. Patients with syndrome X had significantly lower standard deviation of all normal RR intervals, a lower percentage of adjacent normal RR intervals >50 ms in difference (126.4 ± 22 vs 149 ± 43 ms, p <0.05; 6.3 ± 4 vs 11.2 ± 7%, p <0.05; respectively), and a trend toward lower values of time-domain parameters. Lower values of total power and low frequency were also observed in patients with syndrome X (1273 ± 693 vs 1790 ± 989 ms², p <0.05; 406 ± 176 vs 729 ± 455 ms², p <0.01, respectively). An inverse correlation between heart rate and measures of heart rate variability was found in syndrome X but not in control subjects. High- and low-frequency power showed a similar circadian pattern in syndrome X patients and control subjects. Patients and control subjects were then allocated into 2 groups according to the median RR duration: syndrome X1 and control 1 with high mean heart rate, and syndrome X2 and control 2 with low mean heart rate. The syndrome X1 group had a significantly lower standard deviation of all normal RR intervals, root-mean-square difference of successive RR intervals, percentage of adjacent normal RR intervals >50 ms different, and high and low frequency than did the syndrome X2, control 1, and control 2 groups. In conclusion, patients with syndrome X have a sympathovagal balance shifted toward sympathetic predominance that is more evident in those with an increased mean heart rate. This dysfunction appears to persist throughout the 24 hours and may indicate heterogeneity in autonomic function in syndrome X.     

Assessment of p27 (cyclin-dependent kinase inhibitor 1B) and aryl hydrocarbon receptor-interacting protein (AIP) genes in multiple endocrine neoplasia (MEN1) syndrome patients without any detectable MEN1 gene mutations

Objective  Germline mutations in the MEN1 gene predispose to the multiple endocrine neoplasia (MEN1) syndrome; however, approximately 10–20% of patients with MEN1 do not have a detectable MEN1 mutation. A rat strain with multiple endocrine tumours, a phenotypic overlap of both MEN1 and MEN2, has been reported to have a homozygous germline p27 ( CDKN1B ) mutation. Recently, two MEN1 mutation-negative MEN1 syndrome patients have been identified to harbour a germline CDKN1B mutation. The recently identified gene AIP can also cause familial isolated pituitary adenoma, but no other specific tumour is associated with this syndrome. The objective of this study was to evaluate the possible contribution of CDKN1B and AIP germline mutations in a cohort of MEN1 mutation-negative MEN1 syndrome patients.
Patients  Eighteen sporadic and three familial cases of MEN1 mutation-negative MEN1 syndrome were studied (18 pituitary adenomas, 12 hyperparathyroidism, 10 neuroendocrine tumours including 2 ACTH-secreting lesions and one adrenal nodular hyperplasia). Clinical data and genomic DNA were analysed for mutations in the CDKN1B and AIP genes.
Results  There were no mutations in the coding region or exon/intron junction of the CDKN1B and AIP genes in any patient. Although we have a limited number of patients in our cohort, our data is consistent with others in the literature suggesting that CDKN1B and AIP mutations are extremely rare in MEN1 syndrome.
Conclusion  Our results suggest that mutations in the CDKN1B and AIP genes are relatively uncommon in MEN1 mutation-negative MEN1 syndrome patients.     

Marfan Syndrome Type II: There Is More to Marfan Syndrome than Fibrillin 1

Marfan syndrome is a well‐described autosomal dominant syndrome with widely variable clinical manifestations. Cardiovascular complications include mitral valve prolapse with or without associated mitral valve insufficiency, aortic root dilatation, and most importantly the occasional development of aortic aneurysms or rupture. Given the inconsistent phenotype along with the potentially life‐threatening implications, clinicians are increasingly turning to genetic testing for definitive diagnostic confirmation. It has been well established that mutations in the FBN1 gene encoding the structural protein Fibrillin 1 is the molecular etiology of Marfan syndrome. However, there are numerous patients who meet the Ghent clinical diagnostic criteria for Marfan syndrome who do not have identifiable FBN1 mutations. Recently, mutations in TGFBR1 and TGFBR2 (transforming growth factor beta receptors 1 and 2, respectively) have been shown to result in Loeys–Dietz syndrome, a connective tissue disorder with significant phenotypic overlap with Marfan syndrome. Individuals with this Marfanoid disorder lack the ocular findings of Marfan syndrome and often have dysmorphic features such as unusual facies, cleft palate, and contractures. In addition, Loeys–Dietz syndrome patients often present in childhood with significant cardiovascular problems. This article serves to report an illustrative case of Loeys–Dietz syndrome and reviews the phenotypic consequences of FBN1 and TGFBR1 and TGFBR2 gene mutations.     

Dual polymorphisms in UDP-glucuronosyltransferases 1A1 and 1A6: a novel mechanism for hyperserotoninaemia in Gilbert's syndrome mimicking carcinoid syndrome?

Gilbert's syndrome is a common inherited disorder, in which genetic defects in uridine diphosphate-glucuronosyltransferase 1A1 lead to deficient glucuronidation of bilirubin and hence hyperbilirubinaemia. Although usually considered asymptomatic, Gilbert's syndrome can be associated with gastrointestinal and psychiatric symptoms unexplained by the metabolic defect. Genetic polymorphism of a closely related enzyme, uridine diphosphate-glucuronosyltransferase 1A6, results in altered metabolism and elimination of serotonin. On the basis of a case of hyperserotoninaemia in the absence of a detectable carcinoid tumour in a patient with Gilbert's syndrome, who presented with a history of night sweats, flushing, abdominal discomfort and intermittent diarrhoea, we propose that in a subgroup of Gilbert's syndrome patients, homozygocity for dual uridine diphosphate-glucuronosyltransferase 1A1 and uridine diphosphate-glucuronosyltransferase 1A6 polymorphisms may lead to combined hyperbilirubinaemia and hyperserotoninaemia. The latter may account for symptoms experienced by patients with Gilbert's syndrome hitherto considered unrelated to, or unexplainable by, the known defect in bilirubin metabolism.     

Morvan Syndrome Converted from Isaacs' Syndrome after Thymectomy with Positivity for Both Anti-LGI1 and Anti-CASPR2 Antibodies

Anti-voltage-gated potassium channel complex antibodies-mediated disorder includes Isaacs'' syndrome, which is characterized by neuromyotonia, and Morvan syndrome, which is characterized by neuromyotonia, encephalopathy and autonomic dysfunction. We herein report a patient with Morvan syndrome that converted from Isaacs'' syndrome after thymectomy. The patient first presented with myospasm in all extremities and positivity for both anti-leucine-rich glioma inactivated 1 (LGI1) and anti-contactin-associated protein like 2 (CASPR2) antibodies and subsequently developed encephalopathy after thymectomy, which was successfully improved by immunotherapy. This is the first case of Morvan syndrome wherein thymectomy worsened Isaacs'' syndrome, suggesting that immunotherapy should be considered for Isaacs'' syndrome accompanied by positivity for both anti-LGI1 and anti-CASPR2 antibodies to prevent worsening to Morvan syndrome.     

Use of confirmatory factor analysis for the identification of new components of the metabolic syndrome: the role of plasminogen activator inhibitor-1 and Haemoglobin A1c

Background and aimThis study was aimed to identify additional components of metabolic syndrome from a set of cardiovascular risk markers.Methods and resultsThe homeostasis model assessment of insulin resistance (HOMA-IR), C-reactive protein, fibrinogen, plasminogen activator inhibitor-1 (PAI-1), von Willebrand factor, homocysteine, Haemoglobin A1c (HbA1c), and lipoprotein(a) were assessed in a population-based sample of 902 nondiabetic adult subjects. Those biomarkers that were associated with metabolic syndrome were evaluated by multiple regression analysis, along with other traditional cardiovascular risk factors. Confirmatory factor analysis (CFA) was used to test the hypothesis that both the established components of metabolic syndrome and the novel variables identified by the regression analysis were associated with a single underlying factor.HOMA-IR, PAI-1 and HbA1c were the only biomarkers independently related to metabolic syndrome. CFA validated a one-factor model that included these variables. Moreover, the indices of goodness of fit were better for this expanded model than those obtained for a previously validated one-factor model that was restricted to the conventional elements of the syndrome.ConclusionsThese findings show that PAI-1 and HbA1c are singularly linked to metabolic syndrome. Their elevation is presumably another manifestation of the same pathophysiological mechanism that underlies the recognized traits of the syndrome.     

Usefulness of hemoglobin A1c as a criterion to define the metabolic syndrome in a cohort of italian nondiabetic white subjects

We compared the performance of hemoglobin A1c (HbA1c) versus the fasting plasma glucose (FPG) in diagnosing the metabolic syndrome and assessed the diagnostic accuracy of the metabolic syndrome definition using HbA1c in identifying insulin-resistant subjects. The cardiometabolic risk factors, HbA1c, and glucose tolerance were analyzed in 774 nondiabetic white subjects. Insulin sensitivity was estimated with an oral glucose tolerance test-derived insulin sensitivity index. Insulin resistance was defined as the lower quartile of insulin sensitivity index. A 90.9% agreement existed between the use of HbA1c and the FPG for diagnosis of the metabolic syndrome (κ coefficient = 0.813); however, the proportion of subjects who met the metabolic syndrome criteria using the HbA1c was greater (42.1% vs 39.7%). Compared to the subjects who met the metabolic syndrome criteria using the FPG alone, those with the metabolic syndrome using the HbA1c-alone criterion were younger, had greater visceral adiposity, greater levels of inflammatory markers and liver enzymes, and lower blood pressure. In a logistic regression analysis with adjustment for age and gender, the subjects with the metabolic syndrome using the HbA1c criterion only had a 3.6-fold increase risk of having insulin resistance, defined as the lowest quartile of the insulin sensitivity index. A similar risk (3.8-fold) was observed in those who met the metabolic syndrome criteria using FPG alone. Insulin-resistant subjects who did not meet the criteria for the metabolic syndrome using the HbA1c had an unfavorable cardiovascular disease risk profile. In conclusion, although a good agreement existed between the HbA1c and FPG criteria for the diagnosis of the metabolic syndrome, appreciably different groups of subjects were classified using each method.     

De novo CIAS1 mutations,cytokine activation,and evidence for genetic heterogeneity in patients with neonatal-onset multisystem inflammatory disease (NOMID): a new member of the expanding family of pyrin-associated autoinflammatory diseases

OBJECTIVE: Neonatal-onset multisystem inflammatory disease (NOMID; also known as chronic infantile neurologic, cutaneous, articular [CINCA] syndrome) is characterized by fever, chronic meningitis, uveitis, sensorineural hearing loss, urticarial skin rash, and a characteristic deforming arthropathy. We investigated whether patients with this disorder have mutations in CIAS1, the gene which causes Muckle-Wells syndrome and familial cold autoinflammatory syndrome, two dominantly inherited disorders with some similarities to NOMID/CINCA syndrome. METHODS: Genomic DNA from 13 patients with classic manifestations of NOMID/CINCA syndrome and their available parents was screened for CIAS1 mutations by automated DNA sequencing. Cytokine messenger RNA (mRNA) levels were assessed by real-time polymerase chain reaction on peripheral blood leukocyte mRNA, and serum cytokine levels were assayed by enzyme-linked immunosorbent assay. Protein expression was assessed by Western blotting of lysates from plastic-adherent peripheral blood mononuclear cells. RESULTS: In 6 of the 13 patients, we found 6 heterozygous missense substitutions in CIAS1. Five of the 6 mutations are novel. None of these sequence changes was observed in a panel of >900 chromosomes from healthy controls. Two distinct nucleotide changes in a single codon in unrelated patients resulted in the same amino acid change. In 4 mutation-positive children whose parental DNA was available, no mutation was found in the parental DNA, supporting the conclusion that the mutations arose de novo. Consistent with the recently discovered role of CIAS1 in the regulation of interleukin-1 (IL-1), we found evidence of increased IL-1beta, as well as tumor necrosis factor, IL-3, IL-5, and IL-6, but not transforming growth factor beta, in a mutation-positive patient compared with normal controls. CONCLUSION: Our data increase the total number of known germline mutations in CIAS1 to 20, causing a spectrum of diseases ranging from familial cold autoinflammatory syndrome to Muckle-Wells syndrome to NOMID/CINCA syndrome. Mutations in CIAS1 were only found in approximately 50% of the cases identified clinically as NOMID/CINCA syndrome, which raises the possibility of genetic heterogeneity. IL-1 regulation by CIAS1 suggests that IL-1 receptor blockade may constitute a rational approach to the treatment of NOMID/CINCA syndrome.     

A novel mutation of the KAL1 gene in monozygotic twins with Kallmann syndrome

OBJECTIVE: Kallmann syndrome is defined by the association of hypogonadotropic hypogonadism and anosmia. The KAL1 gene is responsible for the X-linked form of Kallmann syndrome. In this study we describe monozygotic twins with Kallmann syndrome due to the same mutation in the KAL1 gene. DESIGN: We studied male monozygotic twins with Kallmann syndrome. METHODS: We analyzed the KAL1 gene using the PCR-direct sequencing method. The twins' mother was examined for the identified mutation. RESULTS: We identified a 14 bp deletion from codon 419 in exon 9 (Pro419del14) in both KAL1 genes of the twins. This was a novel mutation in the KAL1 gene and was responsible for Kallmann syndrome. As Pro419del14 was not detected in the mother of the twins, Pro419del14 was a germline mutation originating from them. These monozygotic twins showed different LH and FSH responses to LH-RH stimulation and different phenotypes such as complications, physiques and psychiatric characters. CONCLUSIONS: We report an identical KAL1 gene mutation in the monozygotic twins with Kallmann syndrome. As these monozygotic twins showed different phenotypes in some respects, we suggest that factors other than mutations in the KAL1gene affect the symptomatic features of Kallmann syndrome.     

Elevated plasminogen activator inhibitor 1 in sleep apnea and its relation to the metabolic syndrome: an investigation in 2 different study samples

Increased circulating levels of plasminogen activator inhibitor 1 (PAI-1) have been associated with atherothrombosis. Plasminogen activator inhibitor 1 levels are elevated in obstructive sleep apnea (OSA) and in the metabolic syndrome, both of which confer excess coronary risk. We investigated whether apnea-hypopnea index (AHI) and the metabolic syndrome would interact in determining plasma concentration of PAI-1. Full-night polysomnography was performed in 2 different groups consisting of a total of 180 unmedicated apneic and nonapneic subjects of whom 20% met the diagnostic criteria for the metabolic syndrome. Distinct AHI cutoffs were selected to define 3 OSA groups with different apnea severity: (a) AHI of at least 5 (n = 115), (b) AHI of at least 10 (n = 84), and (c) AHI of at least 15 (n = 72). Plasminogen activator inhibitor 1 concentration was determined in plasma and statistical analyses controlled for age, sex, ethnicity, and smoking status. In both study groups, PAI-1 was positively correlated with AHI (P's < .002) and was also higher in subjects with the metabolic syndrome than in those without (P' < .013). The interaction between AHI and the metabolic syndrome independently predicted PAI-1 across all subjects and in all 3 OSA groups (P < .05). The AHI was not a significant predictor of PAI-1 in the presence of the metabolic syndrome. If the metabolic syndrome was absent, AHI accounted for between 10% and 13% of the variance in PAI-1 across all subjects and in all 3 OSA severity groups (P < .05). In conclusion, more severe apnea was independently associated with higher PAI-1 concentration in subjects without the metabolic syndrome. Once the metabolic syndrome is clinically manifest, it may be more important than apnea in determining PAI-1 levels.     

Type 1 diabetes mellitus and Down's syndrome: prevalence,management and diabetic complications

Type 1 insulin-dependent diabetes mellitus (Type 1 DM) is thought to be more prevalent in individuals with Down's syndrome. To ascertain the local prevalence of Type 1 DM in patients with Down's syndrome in a geographically defined area, the four diabetes clinics in Lothian were surveyed and 13 patients with Down's syndrome and Type 1 DM were identified. Using data from previous epidemiological surveys which determined the prevalence of Down's syndrome in the general population, the prevalence rate of Type 1 DM in patients with Down's syndrome was calculated to be between 1.4 and 10.6 %, a prevalence considerably higher than in the general population. Although 7 (54 %) of the Down's syndrome patients were treated with once daily administration of insulin, the mean HbA_1c value of the group was similar to that observed in a control group of 39 age-, sex- and duration-matched Type 1 patients, all of whom were taking two or more injections of insulin daily. Glycaemic control was therefore of similar quality to matched Type 1 patients without Down's syndrome, despite the frequent use of simple insulin regimens, which may relate to the more stable lifestyle of these patients. © 1998 John Wiley & Sons, Ltd.     

Syndrome des antisynthétases et adénocarcinome pulmonaire : une association fortuite ?

Introduction

Dermatomyositis and polymyositis are sometimes associated with neoplasia. Conversely, a link between antisynthetase syndrome and neoplasia has not been clearly demonstrated.

Case report

We report a 54-year-old smoker male patient who presented with an antisynthetase syndrome with anti-Jo1 and anti-Ro-52 antibodies. An adenocarcinoma of the lung was diagnosed at the same time.

Conclusion

Two recent studies showed that patients with an antisynthetase syndrome associated with anti-Jo1 antibodies have more severe prognosis than antisynthetase syndrome associated with other antibodies (i.e. PL7/PL12). The risk of cancer occurrence seems to be increased when the anti-Jo1 antisynthetase syndrome is associated with anti-Ro-52 antibodies. To date, there is no demonstrated association between antisynthetase syndrome and neoplasia.     

Forced expression of laminin beta1 in podocytes prevents nephrotic syndrome in mice lacking laminin beta2, a model for Pierson syndrome

Pierson syndrome is a congenital nephrotic syndrome with ocular and neurological defects caused by mutations in LAMB2, the gene encoding the basement membrane protein laminin β2 (Lamβ2). It is the kidney glomerular basement membrane (GBM) that is defective in Pierson syndrome, as Lamβ2 is a component of laminin-521 (LM-521; α5β2γ1), the major laminin in the mature GBM. In both Pierson syndrome and the Lamb2(-/-) mouse model for this disease, laminin β1 (Lamβ1), a structurally similar homolog of Lamβ2, is marginally increased in the GBM, but it fails to fully compensate for the loss of Lamβ2, leading to the filtration barrier defects and nephrotic syndrome. Here we generated several lines of Lamβ1 transgenic mice and used them to show that podocyte-specific Lamβ1 expression in Lamb2(-/-) mice abrogates the development of nephrotic syndrome, correlating with a greatly extended lifespan. In addition, the more Lamβ1 was expressed, the less urinary albumin was excreted. Transgenic Lamβ1 expression increased the level of Lamα5 in the GBM of rescued mice, consistent with the desired increased deposition of laminin-511 (α5β1γ1) trimers. Ultrastructural analysis revealed occasional knob-like subepithelial GBM thickening but intact podocyte foot processes in aged rescued mice. These results suggest the possibility that up-regulation of LAMB1 in podocytes, should it become achievable, would likely lessen the severity of nephrotic syndrome in patients carrying LAMB2 mutations.     

Molecular genetics of Marfan syndrome

PURPOSE OF REVIEW: Marfan syndrome, the founding member of connective tissue disorders, is characterized by involvement of three major systems (skeletal, ocular, and cardiovascular) due to alteration in microfibrils. FBN1 at 15q21.1 was found to cause Marfan syndrome in 1991, and in 2004 TGFBR2 at 3p24.1 was newly identified as the Marfan syndrome type II gene. Several studies implied that fibrillin-1 and transforming growth factor-beta (TGF-beta) signaling are functionally related in extracellular matrix. Identification of TGFBR2 mutations in Marfan syndrome type II provided the direct evidence of the relation in humans. RECENT FINDINGS: More than 500 FBN1 mutations have been found in Marfan syndrome, tentative genotype - phenotype correlations have emerged, and mouse models are providing insight into pathogenic mechanisms. TGFBR2 mutations are still limited, however, in 2005 were also reported to cause a new aneurysm syndrome. Functional association between fibrillin-1 and TGF-beta signaling in extracellular matrix has been presented. SUMMARY: This review focuses on recent molecular genetics advances in Marfan syndrome and overlapping connective tissue disorders. Mutation spectrum of FBN1 and TGFBR2 in relation to phenotype is presented. Functional relation between fibrillin-1 and TGF-beta signaling is discussed. Future prospects in the study of Marfan syndrome are presented.     

Renal tubular acidosis, Sjögren syndrome, and bone disease

BACKGROUND: There has been disagreement about whether osteomalacia (adult rickets) occurs in adults with type 1 (distal) renal tubular acidosis (RTA1). Therefore, after finding scapular pseudofractures in a patient with RTA1 and Sj?gren syndrome, we decided to survey other patients with RTA to learn whether osteomalacia occurred in others and, if it did, whether it was necessarily associated with the presence of Sj?gren syndrome. METHODS: We examined the hospital records and laboratory findings of 250 patients with codes for RTA, 124 with codes for osteomalacia, and 20 with codes for Sj?gren syndrome who were seen at a university-affiliated acute care municipal hospital since 1990. Further detailed survey was then limited to patients older than 15 years and excluded those with potentially confounding causes of bone disease such as chronic renal insufficiency or sickle cell disease. Seven adults with RTA1 were thereby identified. RESULTS: Two adults with RTA1 had radiological and biochemical findings compatible with osteomalacia, and 1 had findings compatible with Sj?gren syndrome. A third patient without Sj?gren syndrome had biochemical findings suggestive of osteomalacia. CONCLUSIONS: Osteomalacia seems to occur in some adult patients with RTA1, and not only in association with Sj?gren syndrome. We found no biochemical evidence of osteomalacia in the patients with Sj?gren syndrome who did not have RTA.     

The metabolic syndrome and mortality: the Singapore Cardiovascular Cohort Study

Objective  This study assesses the effect of the metabolic syndrome on all-cause and cardiovascular disease (CVD) mortality in healthy Chinese, Malays and Asian Indians in Singapore. The utility of the metabolic syndrome is also compared with the Framingham risk score for prediction of mortality.
Methods  Healthy participants ( n  = 5699) were grouped by the presence or absence of the metabolic syndrome, and followed up (mean 14·1 years) by data linkage with the National Death Register. Risk of mortality was obtained by Cox's proportional hazards model with adjusted hazard ratios (HRs). Area under receiver operating characteristic (ROC) curves were used to compare the metabolic syndrome and Framingham risk score for prediction of mortality.
Results  During a follow-up of 80 236 person-years, there were 382 deaths, of which 128 were due to CVD. Individuals with the metabolic syndrome had an increased risk of mortality for 'all-causes' (males: HR 1·4, 95% confidence intervals (95%CI) 1·1–1·8; and females: HR 1·8, 95%CI 1·3–2·6). There was also an increased risk of mortality due to CVD (males: HR 3·0, 95%CI 1·9–4·8; and females: HR 2·1, 95%CI 1·1–4·0). The area under ROC for Framingham risk score was higher for both all-cause and CVD mortality than metabolic syndrome.
Conclusions  Although an increased risk of 'all-cause' and CVD mortality due to the metabolic syndrome was found, the Framingham risk function still performed better than the metabolic syndrome in an Asian population. However, the metabolic syndrome should not be disregarded as it is a clinically useful entity for identifying individuals for management of its component CVD risk factors.     

11beta-hydroxysteroid dehydrogenase type 1 as a modulator of glucocorticoid action: from metabolism to memory.

Increases in plasma cortisol and glucocorticoid pharmacotherapy cause myriad adverse effects from obesity and diabetes to impairments in memory. The common metabolic syndrome phenotypically resembles the rare disorder Cushing's syndrome, but plasma cortisol levels are usually normal. 11beta-Hydroxysteroid dehydrogenase type 1 (11beta-HSD1) catalyses the regeneration of active glucocorticoids (cortisol and corticosterone) from inert 11-keto forms in specific tissues, notably liver, adipose and brain. Recent work shows that obese humans and rodents have increased 11beta-HSD1 activity selectively in adipose tissue. By locally amplifying glucocorticoid action, this increase in activity might explain the Cushing's syndrome/metabolic syndrome paradox. Indeed, mice deficient in 11beta-HSD1 resist both the metabolic syndrome that develops with dietary obesity and glucocorticoid-associated cognitive impairments that develop with ageing. The ongoing development of selective 11beta-HSD1 inhibitors affords the opportunity to explore a new approach to some major common disorders.     

太湖地区动脉粥样硬化病人的中医证素分布

目的根据动脉粥样硬化(atherosclerosis,AS)病人的四诊信息,观察太湖地区AS病人中医证候要素(证素)的分布规律。方法依据AS纳入病例标准,随机选取AS住院病人119例,作为实验组,由专职主任中医师进行中医"证素"评估。结果 119例AS病人中,单证素者79例,多证素兼夹者40例。单证素组中痰浊30例(38.0%),阴虚16例(20.3%),气虚14例(17.7%),血瘀4例(5.1%),肝火14例(17.7%),阳虚1例(1.3%)。单证素与多证素兼夹AS病人的累计证素组中,痰浊60例(34.7%),阴虚47例(27.2%),气虚28例(16.2%),血瘀23例(13.3%),肝火14例(8.1%),阳虚1例(0.6%)。单证素组79例中,女性47例,痰浊证素为21例(44.7%),肝火证素12例(25.5%);男性32例,痰浊证素9例(28.1%),阴虚证素10例(31.3%)。结论太湖地区AS病人常见的中医"证素"有痰浊、阴虚、气虚、肝火、血瘀,其分布规律呈现虚实分布的特点,实性证素和虚性证素大体上均衡分布,体现了AS虚实夹杂的病理属性。痰浊可能是该地区AS病人最主要的病理因素;血瘀证素则多以兼夹证素的形式出现;而虚性证素中以气虚证素、阴虚证素最多见,阳虚证素出现极少;肝火证素也占了一定比例,提示火热之邪也可以是导致AS的病理因素。AS证素在性别分布上,男性病人以痰浊证素、阴虚证素出现几率较高,女性病人以肝火证素、痰浊证素出现的几率较高,提示对于AS研究应根据不同性别特点进一步深入研究。