Familial defective apolipoprotein B-100 in a group of hypercholesterolaemic patients in Poland. Identification of a new mutation Thr3492Ile in the apolipoprotein B gene.

The prevalence of the familial defective apolipoprotein B-100 (FDB) Arg3500Gln mutation in 525 unrelated hypercholesterolaemic Polish subjects was evaluated. DNA samples were screened for FDB mutation using SSCP method. Presence of mutation was confirmed using a mismatch MspI PCR strategy. Plasma lipid levels and clinical characteristics of 13 patients identified as carriers of the mutation and of their 23 affected relatives were analysed and compared with non-affected ones. In the affected individuals a variable expression of lipid concentrations and of atherosclerosis symptoms were observed. The prevalence of FDB Arg3500Gln mutation in hypercholesterolaemic Polish subjects (3.7%) seems to be similar to the frequency reported in other Caucasian hypercholesterolaemic populations. The estimated prevalence of the mutation in general Polish population is relatively high being 1/250. The same haplotype at the apoB locus in the carriers of this mutation in Poland as in other populations from Western Europe suggests its common origin. In one hypercholesterolaemic subject a non-hitherto described mutation was identified. It consisted in C-->T transition in apoB codon 3492 leading to threonine to isoleucine substitution in 3492 position of apoB gene (Thr3492Ile).

Heart failure in patients seeking medical help at outpatients clinics. Part I. General characteristics.

BACKGROUND: During the last decade, the beneficial changes in lifestyle and in medical care increased average life expectancy, particularly in patients with chronic diseases such as hypertension and coronary heart disease. Unfortunately this also increased the number of patients, particularly among the elderly, who are susceptible to complications of these conditions such as heart failure. Uncontrolled hypertension is known to be a primary cause of heart failure and is also known to be very prevalent and frequently uncontrolled in the Polish population. AIM: To estimate the prevalence and characteristics of heart failure among patients of 65 years and older seeking medical care in outpatient clinics in Poland. METHODS: The study is a cross-country epidemiological project in which 417 physicians from outpatient clinics were asked to register 50 consecutive patients aged 65 years and above seeking medical care for any cause. Information on case history, physical examination (diagnosis of heart failure, NYHA class, heart failure symptoms), laboratory tests (resting ECG, chest X-ray, echocardiogram) and data concerning pharmacology management during the 2 weeks prior to the index visit was obtained. RESULTS: Over 5 months, 19877 eligible patients (7324 men and 12553 women) presented to the 417 participating physicians (90% physicians registered 46-50 patients). Among the patients, 53% were diagnosed with heart failure (3901 men and 6678 women), prevalence did not differ by gender. Among patients with heart failure there were 38% of men in NYHA class III or IV and 34% of women. Coronary heart disease was a predominant cause of heart failure in 87% of men (26% of cases with isolated coronary heart disease, 53% with concomitant hypertension and 8% with other diseases), while percentages for women were 80% (15%, 61% and 4%, respectively). Isolated hypertension was a further cause of heart failure in 8% of men and 13% of women. Cardiac arrhythmia was found in approximately 20% of patients, enlargement of heart size in 32% of patients and peripheral leg edema in 54% of men and 64% of women. These symptoms increased with age. Chest X-ray revealed cardiomegaly in 68% of men and women and increased cardiothoracic ratio (>50%) in approximately 40% of patients. From resting ECGs, cardiac arrhythmia was recorded in 21% of patients with heart failure, with atrial fibrillation as a predominant disorder (19%). Left ventricular hypertrophy on resting ECG was noted in 42% of men and women and old myocardial infarction or cardiac ischemia was diagnosed in 71% of men and 66% of women. CONCLUSIONS: (1) Heart failure was diagnosed in over half of outpatients aged 65 and older; in more than a third of these it was NYHA class III and IV. (2) Outpatients with heart failure had a high frequency of co-existing diseases such as arrhythmia, coronary heart disease and hypertension.

Constitutional, biochemical and lifestyle correlates of fibrinogen and factor VII activity in Polish urban and rural populations.

BACKGROUND: Fibrinogen and factor VII activity are known to be related to atherosclerosis and coronary heart disease, but population differences in clotting factors and modifiable characteristics that influence their levels have not been widely explored. METHODS: This paper examines correlates of plasma fibrinogen concentration and factor VII activity in 2443 men and women aged 35-64 in random samples selected from the residents in two districts in urban Warsaw (618 men and 651 women) and from rural Tarnobrzeg Province (556 men and 618 women) screened in 1987-1988, and assesses which characteristics might explain urban-rural differences. Fibrinogen and factor VII activity were determined using coagulation methods. RESULTS: Fibrinogen was 12.9 mg/dl higher in men and 14.1 mg/dl higher in women in Tarnobrzeg compared to Warsaw. Factor VII activity was higher in Warsaw (9.2% in men and 15.3% in women). After adjustment for selected characteristics, fibrinogen was higher in smokers compared to non-smokers by 28 mg/dl in men and 22 mg/dl in women. In women, a 15 mg/dl increase in HDL-cholesterol was associated with a 10 mg/dl decrease in fibrinogen (P < 0.01). After adjustment for other variables, a higher factor VII activity in Warsaw remained significant (a difference of 9.4% in men and 14.8% in women). Lower fibrinogen in Warsaw remained significant only in women (15.4 mg/dl difference). CONCLUSIONS: The study confirmed that sex, age, BMI, smoking and blood lipids are related to clotting factors. However, with the exception of gender differences and smoking, associations between clotting factors and other variables were small and of questionable practical importance.

[Relationship between heart rate and general mortality and that caused by cardiovascular diseases]. / Zaleznosc pomiedzy czestoscia tetna a umieralnoscia ogólna i spowodowana chorobami ukladu krazenia.

The sample of 1309 men and 1337 women, aged 35-64, randomly selected for the first Warsaw Pol-Monica screening performed in 1984, was followed up in 1992. All deaths were registered according to the cause of death based on death certificate diagnosis. The proportional hazard Cox model was used for univariate heart rate (HR) analysis and for multivariate analysis after adjustment for covariates (HR divided into 4 subgroups). Out of screened subjects 263 persons died (139 due to cardiovascular disease CVD). Mean baseline HR of persons who died was 76.8 (+/- 11.5) versus 73.9 (+/- 10.2) for subjects who survived (p = 0.0001). In the univariate analysis the heart rate was significantly positively related both to all cause mortality (relative risk RR = 1.29, p = 0.0001) as well as to cardiovascular mortality (RR = 1.31, p = 0.0025). In the multivariate analysis HR was significantly positively related to all cause mortality (standardized RR = 1.24, p = 0.0012), but almost significantly related to cardiovascular mortality (SRR = 1.20, p = 0.052).

[Evaluation of the efficiency of gemfibrozil in treating hyperlipidemia type IIb and IV]. / Ocena skutecznosci gemfibrozilu w leczeniu hiperlipidemii typu IIb i IV.

Analysis of the efficacy and tolerability of gemfibrozil (Gevilon-Parke Davis) was performed including 29 patients aged 19-69 years with primary hyperlipoproteinemia (HLP) type IIb-16 persons, IV-13 persons. All patients got dietary recommendations and received gemfibrozil 450-900 mg/day for 3 months. In both types of HLP a significant reduction of serum cholesterol (TCh)--15.5% triglycerides (TG)--32.1% VLDL-Ch--34.9% and VLDL-TG concentration--36.6% was observed as well as an increase of HDL3 fraction-16.3%. The greatest reduction of serum TCh concentration and VLDL-Ch were observed in type IIb, while that of TG and VLDL-TG in type IV HLP. The best therapeutic effect was obtained during the first month of treatment. The percent of TCh, TG, VLDL-Ch, VLDL-TG reduction correlated with their initial level. Tolerability of gemfibrozil was very good. Only in 2 patients transient abdominal pain was observed.