Center for Primary Health Care Research, CRC, Bldg 28, Floor 11, Entrance 72, Malmö University Hospital, SE-205 02 Malmö, Sweden.
Circulation. 2011 Aug 30;124(9):1012-20. doi: 10.1161/CIRCULATIONAHA.110.965020. Epub 2011 Aug 8.
This nationwide study sought to determine age- and gender-specific familial risks in siblings hospitalized for venous thromboembolism (VTE).
The Swedish Multigeneration Register on 0- to 75-year-old subjects was linked to the Hospital Discharge Register for the years 1987-2007. Standardized incidence ratios were calculated for individuals whose siblings were hospitalized for VTE compared with those whose siblings were not affected. Among a total of 45 362 hospitalized cases with VTE, 2393 affected siblings were identified, with a familial standardized incidence ratio of 2.45 (95% confidence interval [CI], 1.66 to 3.61). Gender-specific differences in incidence rates were observed. The familial risks were significantly increased from the age of 10 to 69 years, with a familial standardized incidence ratio of 4.77 (95% CI, 1.96 to 10.83) at ages 10 to 19 years, which decreased to 2.08 (95% CI, 1.35 to 3.20) at ages 60 to 69 years, although the absolute risk increased with age. The familial standardized incidence ratios for siblings with 2 and ≥3 affected probands were 51.87 (95% CI, 31.47 to 85.00) and 53.69 (95% CI, 25.59 to 108.50), respectively. Spouses had low familial risks (standardized incidence ratio=1.07; 95% CI, 1.04 to 1.10; observed spouse cases=3900).
Familial factors, although influenced by age and gender, are important risk factors for VTE. The present study shows that VTE is aggregated in families and suggests that uncovering the sources of familial aggregation (genetic and nongenetic) may be worthwhile. Moreover, in a small fraction of siblings, the familial risk was very high, suggesting segregation of rare but strong genetic risk factors.
本项全国性研究旨在确定因静脉血栓栓塞症（VTE）住院的兄弟姐妹的年龄和性别特异性家族风险。
对 0 岁至 75 岁的瑞典多代登记处的受试者进行了链接，以获取 1987 年至 2007 年的住院患者出院登记数据。计算了与兄弟姐妹未受影响者相比，因 VTE 住院的个体的标准化发病比。在总共 45362 例 VTE 住院病例中，确定了 2393 例患病的兄弟姐妹，家族标准化发病比为 2.45（95%置信区间 [CI]，1.66 至 3.61）。观察到发病率的性别特异性差异。从 10 岁到 69 岁，家族风险显著增加，10 岁至 19 岁时家族标准化发病比为 4.77（95%CI，1.96 至 10.83），而 60 岁至 69 岁时则降至 2.08（95%CI，1.35 至 3.20），尽管绝对风险随年龄增加而增加。有 2 个和≥3 个患病先证者的兄弟姐妹的家族标准化发病比分别为 51.87（95%CI，31.47 至 85.00）和 53.69（95%CI，25.59 至 108.50）。配偶的家族风险较低（标准化发病比=1.07；95%CI，1.04 至 1.10；观察到的配偶病例=3900）。
尽管家族因素受年龄和性别影响，但它们是 VTE 的重要危险因素。本研究表明，VTE 在家庭中聚集，并提示揭示家族聚集的原因（遗传和非遗传）可能是值得的。此外，在一小部分兄弟姐妹中，家族风险非常高，提示罕见但强遗传风险因素的分离。
