Division of Reproductive Endocrinology and Infertility, Department of OB-GYN, Section of Pediatric-Adolescent Gynecology, Wright State University Boonshoft School of Medicine, Dayton, OH, USA.
Exp Hematol Oncol. 2013 Jan 24;2(1):3. doi: 10.1186/2162-3619-2-3.
Platelet function disorders (PFDs) have emerged as an important etiology of heavy menstrual bleeding (HMB) in adolescents. However, neither clinical nor laboratory data have been methodically analyzed in this population subset. The objective of this study was to evaluate these parameters in order to distinguish characteristics of the disorder that in turn will lead to earlier diagnosis and therapy initiation.
Retrospective review of medical records from postmenarcheal adolescents with documented PFDs referred to a hemophilia treatment center and university faculty practices for bleeding diatheses with their clinical and laboratory data evaluated.
Of 63 teens with documented PFDs, HMB was the most common clinical manifestation of PFD (43; 68.3%). Of these, 37 (86%) were diagnosed with PFD either at or after menarche with the diagnosis based on HMB symptoms alone. Only 6 (14%) were diagnosed with a PFD prior to menarche, based on associated bleeding, i.e., epistaxis, ecchymosis, and all developed HMB after menstruation onset. Interestingly, 20 girls were diagnosed with a PFD prior to menarche and of these, only 6 (30%) went on to develop HMB after pubertal transition, while the majority (14; 70%) did not. The average age-at-PFD diagnosis was 14.5yrs, significantly differing from the 10.9yrs average age-at-PFD diagnosis in their counterparts that, after menarche, did not develop HMB (P<.01) Blood type O occurred significantly more frequently (76%) than national norms (P <.037). Incidence of δ-Storage Pool deficiency (δ-SPD) was significantly higher (74%) than their non-HMB cohorts (45%) (P <.007). Coagulation and von Willebrand factor studies were all normal. Abnormal closure times and aggregation studies were observed in 42% and 60%, respectively, of tested girls. In 25.6% for whom standard platelet studies were normal, electron microscopy detected reduced platelet δ-granules numbers (δ-SPD).
Adolescents with PFDs and HMB appear to be clinically distinct from their non-HMB counterparts. This group of girls is characterized by HMB the major bleeding symptom, significantly high incidences of blood group O and the δ-SPD with a PFD diagnosed well after menarche. High false negative standard platelet function study results indicate additional diagnostic strategies, particularly for δ-SPD, should be considered.
血小板功能障碍（PFD）已成为青少年月经过多（HMB）的重要病因。然而，在这个人群亚组中，既没有对临床数据也没有对实验室数据进行系统分析。本研究的目的是评估这些参数，以区分该疾病的特征，进而导致更早的诊断和治疗开始。
回顾性分析了就诊于血友病治疗中心和大学教职员工诊所的青春期后有记录的 PFD 患者的病历，评估了他们的临床和实验室数据。
在 63 名有记录的 PFD 青少年中，HMB 是 PFD 最常见的临床表现（43 例；68.3%）。其中，37 例（86%）在月经初潮或之后被诊断为 PFD，仅基于 HMB 症状做出诊断。仅有 6 例（14%）在月经初潮前被诊断为 PFD，这是基于相关的出血，即鼻出血、瘀斑，且所有人在月经初潮后均出现 HMB。有趣的是，20 名女孩在月经初潮前被诊断为 PFD，其中仅 6 名（30%）在青春期后出现 HMB，而大多数（14 名；70%）没有。PFD 的平均诊断年龄为 14.5 岁，与青春期后未出现 HMB 的同龄人 10.9 岁的平均诊断年龄显著不同（P<.01）。O 型血的发生率明显高于全国正常值（P<.037）。δ-贮存池缺乏症（δ-SPD）的发生率明显高于无 HMB 的对照组（45%）（P<.007）。凝血和血管性血友病因子研究均正常。在接受测试的女孩中，分别有 42%和 60%出现异常的闭合时间和聚集研究。在标准血小板研究正常的 25.6%患者中，电子显微镜检测到血小板 δ-颗粒数量减少（δ-SPD）。
患有 PFD 和 HMB 的青少年似乎与非 HMB 患者在临床表现上有所不同。这群女孩的特征是 HMB 是主要的出血症状，O 型血发生率高，δ-SPD 发生率高，且 PFD 在月经初潮后很久才被诊断。标准血小板功能研究结果的高假阴性率表明，应考虑采用其他诊断策略，特别是针对 δ-SPD。
