伊朗德黑兰伯纳德-苏利耶综合征研究。

A study of Bernard-Soulier syndrome in Tehran, Iran.

机构信息

Thrombosis and Homeostasis Research Center, Imam Khomeni Hospital Complex, Tehran University of Medical Sciences, Tehran, Iran.

出版信息

Arch Iran Med. 2010 Nov;13(6):549-51.

PMID:21039013

Abstract

BACKGROUND

Bernard-Soulier Syndrome (BSS) is a hemorrhagic disorder with an autosomal recessive pattern of inheritance. We describe the demographic and clinical characteristics of Iranian patients with BSS followed in a major teaching and tertiary care hospital in Tehran, Iran.

METHODS

We performed a retrospective medical record review of 97 patients with BSS who received care at the Imam Khomeini Hospital between 1969 and 2001. We collected data on the family history, clinical presentation, bleeding episodes, and lab profiles of these patients.

RESULTS

Among all patients, 78 (81%) had a family history of consanguinity. The most common presenting symptom was epistaxis, seen in 62 (63.9%) patients. Peripheral blood smears demonstrated giant platelets on 67 (68.7%) of patients. Complete blood count demonstrated decreased platelets in 85 (87.4%) of patients ranging from 20,000/μL to 130,000/μL. Anemia was seen in 62 (64%) and 91 (93.8%) had prolonged bleeding time. The majority of patients (60%) had mild bleeding episodes, but 39 (40%) had at least one episode of severe bleeding in their past history.

CONCLUSION

Our data are consistent with other reports regarding clinical presentation of BSS, but consanguinity seems to be more common.

摘要

背景

伯纳德-苏利耶综合征（BSS）是一种常染色体隐性遗传的出血性疾病。我们描述了在伊朗德黑兰的一家主要教学和三级保健医院就诊的伊朗 BSS 患者的人口统计学和临床特征。

方法

我们对 1969 年至 2001 年间在伊玛目霍梅尼医院接受治疗的 97 例 BSS 患者进行了回顾性病历审查。我们收集了这些患者的家族史、临床表现、出血发作和实验室特征的数据。

结果

在所有患者中，78 例（81%）有近亲结婚的家族史。最常见的首发症状是鼻出血，见于 62 例（63.9%）患者。外周血涂片显示 67 例（68.7%）患者有巨大血小板。全血细胞计数显示 85 例（87.4%）患者血小板减少，范围从 20,000/μL 至 130,000/μL。62 例（64%）患者有贫血，91 例（93.8%）患者有延长的出血时间。大多数患者（60%）有轻微的出血发作，但 39 例（40%）在过去的病史中有至少一次严重出血发作。