Sánchez-Fuentes Ana, Pérez-Botero Juliana, Bastida José M, Rivera José
Servicio de Hematología, Hospital Universitario Morales Meseguer, Centro Regional de Hemodonación, Instituto Murciano de Investigaciones Biomédicas (IMIB)-Pascual Parrilla, Universidad de Murcia, CIBERER-ISCIII-U765, 30503 Murcia, Spain.
Division of Hematopathology, Mayo Clinic, Rochester, MN 55905, USA.
Biomolecules. 2025 Jun 10;15(6):846. doi: 10.3390/biom15060846.
Inherited platelet disorders (IPDs) are a group of rare conditions affecting platelet number, function, or both. Clinical manifestations vary widely, from asymptomatic cases to patients with severe bleeding, syndromic features, or early-onset blood cancers. Some are diagnosed due to family history. Early and accurate diagnosis-through both clinical and molecular evaluation-is essential for effective patient management and to avoid inappropriate treatments due to misdiagnosis. Genetic confirmation aids in prognosis, follow-up planning, family screening, genetic counseling, and donor selection for stem cell transplantation if required. However, diagnosing IPD is still challenging due to the disorders' complexity and the limitations of current lab tests. This review outlines the diagnostic process for IPD and provides evidence-based, practical recommendations informed by scientific literature and clinical experience.
遗传性血小板疾病（IPD）是一组影响血小板数量、功能或两者的罕见病症。临床表现差异很大，从无症状病例到有严重出血、综合征特征或早发性血癌的患者。有些病例是根据家族病史诊断出来的。通过临床和分子评估进行早期准确诊断对于有效管理患者以及避免因误诊而进行不恰当治疗至关重要。基因确认有助于预后、后续随访计划、家族筛查、遗传咨询以及在需要时为干细胞移植选择供体。然而，由于这些疾病的复杂性以及当前实验室检测的局限性，诊断IPD仍然具有挑战性。本综述概述了IPD的诊断过程，并根据科学文献和临床经验提供基于证据的实用建议。
