Epidemiology of haemophilia in Greece: an overview.

Demographic data of the Greek haemophilia A and B population for the period 1972-1993 were analyzed. Prevalence at birth including known not-registered patients was calculated at 23.1 per 100,000 male births. However, the observed prevalence in 1993 was only 61% of the expected. Since 1975 the proportion of mild cases had significantly increased. Adjusted by age, severity and HIV status reproductive fitness of haemophiliacs was 0.62. Overall mortality was 2.6 times higher than in the general population, but 7.9 times among patients with severe haemophilia and 16.4 among HIV(+) haemophiliacs. Fifty out of 78 deaths occurred among HIV(+) patients and 28 of these were caused by AIDS. Inhibitor patients did not show excess mortality due to bleeding. Cancer mortality was equal to normal, but the number of deaths from ischaemic heart disease was 0.25 of the expected. Risk of death due to cerebral haemorrhage was 3.8 times higher in HIV(+) haemophiliacs than in HIV(-).

Longevity of men capable of prolonged vigorous physical exercise: a 32 year follow up of 2259 participants in the Dutch eleven cities ice skating tour.

OBJECTIVE: To compare the long term survival of a group of athletes taking prolonged vigorous physical exercise to that of the general population. DESIGN: Follow up of a cohort of participants in the Dutch eleven cities ice skating tour (a race and recreational tour) over a distance of 200 kilometers. SETTING: Data on participation from the organising committee and data on mortality from all municipalities in The Netherlands. SUBJECTS: 2259 Male athletes. MAIN OUTCOME MEASURES: Comparison of all cause mortality in male participants in the tour with that in the general population of The Netherlands. RESULTS: The standardised mortality ratio for all participants during 32 years of follow up was 0.76 (95% confidence interval 0.68 to 0.85), and 0.90 (0.48 to 1.44) for participants in the race, and 0.72 (0.60 to 0.86) for participants in the recreational tour who finished within the time limit. CONCLUSIONS: The capacity for prolonged and vigorous physical exercise, particularly if the exercise is recreational, is a strong indicator of longevity.

Survival in families with hereditary protein C deficiency, 1820 to 1993.

OBJECTIVES: To establish the survival of individuals heterozygous for hereditary protein C deficiency, who have an increased risk of venous thrombotic events, and to compare it with the survival of the general population. DESIGN: Retrospective study in pedigrees of 23 families with hereditary protein C deficiency for period 1820 and 1993. SETTING: 23 completed family trees of 24 probands from various parts of the Netherlands with symptoms of protein C deficiency. SUBJECTS: All 736 members of the 23 families with a 50% or 100% probability of being (or having been) heterozygous for the genetic defect on the basis of DNA analysis or their place in the pedigrees, following mendelian rules. MAIN OUTCOME MEASURES: Observed mortality compared with the mortality of the general Dutch population; the standardised mortality ratio was calculated by dividing the observed mortality by the expected mortality. RESULTS: No excess mortality was found in the 206 proved heterozygous individuals and "obligatory transmitters" (those who have definitely passed on the deficiency) (standardised mortality ratio 0.95 (95% confidence interval 0.5 to 1.2)) or in the 530 family members with a 50% genetic probability of heterozygosity (1.10 (0.9 to 1.3)). CONCLUSION: Heterozygous individuals with hereditary protein C deficiency type I have normal survival compared with the general population. Prophylactic anticoagulant treatment may prevent thrombotic events in heterozygous individuals but may not be expected to improve their survival.

[150 years of life expectancy of Dutch members of parliament; 1848-1989]. / 150 jaar levensverwachting van Nederlandse parlementariërs; 1848-1989.

To determinate whether the stressful lifestyle of members of parliament (MP) might lead to excess mortality, as suggested in British Medical Journal in 1989, we investigated the mortality and life expectancy of 1589 members of the Dutch parliament over the period 1848-1989. Total mortality (all causes) for members of parliament who had been in function for at least one year (n = 1472) was compared to that of the general population of the Netherlands, adjusted for age, sex and calendar period. We calculated a standardized mortality ratio (SMR) from beginning of exposure as well as from ten years after entry in order to correct for a healthy cohort effect. The total number of deaths was 986 (863 with follow-up after 10 years after entry) and did not exceed the expected number of deaths based on population mortality rates. We conclude that MPs have no higher death risk than those who elected them, although one might have expected a lower death risk because of their social background.

Increased soluble P-selectin levels following deep venous thrombosis: cause or effect?

Deep vein thrombosis (DVT) is associated with coagulation abnormalities, but evidence of excess platelet activity is scant. Soluble P-selectin is a marker of platelet activity, with high levels being found in patients with thrombotic disease. We measured soluble P-selectin by enzyme-linked immunosorbent assay (ELISA) in plasma from 89 patients with objectively confirmed DVT and in 126 healthy age- and sex-matched control subjects, and found higher levels in the patients (P = 0.011). Taking the risk of DVT with a level of soluble P-selectin < 238 ng/ml to be 1, the relative risk of DVT with a soluble P-selectin level >238 ng/ml was 2.1 (95% CI 1. 2-3.6). These high levels may be a reflection of a generalized hypercoagulable state that, with factors such as the presence of persistent thrombin generation, could be responsible for excess platelet activation.

A century of mortality in five large families with polycystic kidney disease.

Autosomal dominant polycystic kidney disease (ADPKD) characteristically leads to end-stage renal failure in the fifth or sixth decade of life, which in the absence of therapeutic measures will lead to premature death. To determine excess mortality relative to the general population and chromosome 16-linked ADPKD patients, we studied 348 individuals who belonged to five large ADPKD families and who had at least a 50% probability of carrying the gene; the study data derive from a time span of approximately one century. Assessment of the diagnosis of ADPKD in the present generation was based on the characteristic roentgenographic appearance of polycystic kidneys and was confirmed by DNA analysis with flanking polymorphic markers around the polycystic gene. In the previous generation, we used Mendelian reasoning after pedigree analysis to identify persons with a 50% or 100% probability of carrying the polycystic gene. During the study period (1889 to 1992), 83 deaths occurred in 10,279 person-years. Mortality was increased 1.6-fold (95% confidence interval, 1.3 to 2.0) relative to the general population and was independent of the gender of the affected family member as well as the gender of the transmitting parent. The increased mortality was strongest in the 50 to 59 year age group (relative mortality, 3.2; 95% confidence interval, 2.0 to 4.8), but decreased after the 1970s, probably as a result of improvements in supportive care and, eventually, renal replacement therapy. In conclusion, the total life-span in ADPKD patients is improving, but remains low in comparison to the general population, and the gender of the transmitting parent or of the affected individual does not influence relative mortality.