Department of Obstetrics & Gynaecology, East Surrey Hospital, Redhill, England, UK.
BMC Pregnancy Childbirth. 2013 Jan 17;13:16. doi: 10.1186/1471-2393-13-16.
Pseudo (platelet-type)-von Willebrand disease is a rare autosomal dominant bleeding disorder caused by an abnormal function of the glycoprotein lb protein; the receptor for von Willebrand factor. This leads to an increased removal of VWF multimers from the circulation as well as platelets and this results in a bleeding diathesis. Worldwide, less than 50 patients are reported with platelet type von Willebrand disease (PT-VWD).
We describe the management of platelet type von Willebrand disease in pregnancy of a 26 year old Caucasian primigravida. The initial diagnosis was made earlier following a significant haemorrhage post tonsillectomy several years prior to pregnancy. The patient was managed under a multidisciplinary team which included obstetricians, haematologists, anaesthetists and neonatologists. Care plans were made for the ante- natal, intra-partum and post-partum periods in partnership with the patient. The patient's platelet count levels dropped significantly during the antenatal period. This necessitated the active exclusion of other causes of thrombocytopenia in pregnancy. A vaginal delivery was desired and plans were made for induction of labour at 38 weeks of gestation with platelet cover in view of the progressive fall of the platelet count. The patient however went into spontaneous labour on the day of induction. She was transfused two units of platelets before delivery. She had an unassisted vaginal delivery of a healthy baby. The successful antenatal counselling has encouraged the diagnosis of the same condition in her mother and sister. We found this to be a particularly interesting case as well as challenging to manage due to its rarity. Psuedo von Willebrand disease in pregnancy can be confused with a number of other differential diagnoses, such as gestational thrombocutopenia, idiopathatic thrombocytopenia, thrombotic thrombocytopenic purpura and pre-eclampsia; all need consideration during investigations even in a case such as this where the diagnosis of platelet type von Willebrand disease was known before pregnancy.
Management of pseudo von Willebrand disease in pregnancy involves the co-operation of multidisciplinary teams, regular monitoring of platelet levels and factor VIII and replacement as appropriate. This case report highlights this rare condition and the need to exclude all the other differential diagnoses of thrombocytopenia in pregnant women with thrombocytopenia.
假性（血小板型）血管性血友病是一种罕见的常染色体显性遗传性出血性疾病，由血管性血友病因子（vWF）受体糖蛋白 Ib 蛋白的异常功能引起。这导致 vWF 多聚体从循环中以及血小板中被更快速地清除，从而导致出血倾向。在全球范围内，报道的血小板型血管性血友病（PT-VWD）患者不到 50 例。
我们描述了一位 26 岁白人初产妇在怀孕期间患血小板型血管性血友病的管理情况。该患者在怀孕前几年因扁桃体切除术后发生严重出血而首次确诊。该患者由包括妇产科医生、血液科医生、麻醉师和新生儿科医生在内的多学科团队进行管理。与患者合作制定了产前、产时和产后的护理计划。患者的血小板计数在产前期间显著下降。这需要积极排除妊娠期间其他血小板减少症的原因。患者希望进行阴道分娩，并计划在 38 周妊娠时进行引产，并考虑到血小板计数的逐渐下降而进行血小板覆盖。然而，患者在引产当天自然分娩。分娩前输注了两单位血小板。她顺利地经阴道分娩出一个健康的婴儿。成功的产前咨询鼓励对她的母亲和姐姐进行同样疾病的诊断。我们发现这是一个特别有趣的病例，并且由于其罕见性而具有挑战性。妊娠假性血管性血友病可能与许多其他鉴别诊断相混淆，如妊娠期血小板减少症、特发性血小板减少性紫癜、血栓性血小板减少性紫癜和子痫前期；即使在这种情况下，即在怀孕前已知血小板型血管性血友病的诊断，也需要在检查期间考虑所有这些鉴别诊断。
妊娠假性血管性血友病的管理涉及多学科团队的合作、定期监测血小板计数和因子 VIII，并根据需要进行替代治疗。本病例报告强调了这种罕见疾病的存在，并需要排除所有其他妊娠合并血小板减少症的鉴别诊断。
