Dale R F
J Med Genet. 1985 Aug;22(4):274-8. doi: 10.1136/jmg.22.4.274.
A family study is reported on 312 index patients who had primary lymphoedema with onset before 36 years. All had been investigated at St Thomas's Hospital, London, between 1965 and 1980. Most of the information was obtained by questionnaire, but 70 patients were also interviewed to check the reliability of the answers to the questionnaire. The frequency at birth of those who will develop primary lymphoedema is estimated to be about 1 in 6000, with a sex ratio of about one male to three females. Approximately 10% of children of index patients and 10% of sibs were affected when these relatives were at least five years older than the age of onset in the index patient. The proportion of female relatives affected was between two and four times that of males affected. The proportion of parents affected was about 10%. The proportion of grandparents, aunts, and uncles was about 2.5%. Where the index patient had an affected parent, the proportion affected of sibs and children was about 20%. The risk to relatives of male index patients was about 50% higher than for female index patients.
报告了一项针对312例原发性淋巴水肿指数患者的家族研究，这些患者发病年龄在36岁之前。1965年至1980年间，所有患者均在伦敦圣托马斯医院接受了检查。大部分信息通过问卷调查获得，但也对70例患者进行了访谈，以核查问卷答案的可靠性。据估计，患原发性淋巴水肿者的出生频率约为六千分之一，男女比例约为1:3。当这些亲属比指数患者的发病年龄至少大5岁时，指数患者的子女和同胞中约10%受到影响。受影响的女性亲属比例是男性亲属的两到四倍。父母受影响的比例约为10%。祖父母、姑姑和叔叔受影响的比例约为2.5%。若指数患者有一位患病的父母，其同胞和子女受影响的比例约为20%。男性指数患者亲属的患病风险比女性指数患者亲属高约50%。
