Alessi Marie-Christine, Sié Pierre, Payrastre Bernard
Aix Marseille Univ, Inserm, Inrae, C2VN, 13385 Marseille Cedex, France.
CHU de Toulouse, Laboratoire d'Hématologie, 31059 Toulouse Cedex, France.
J Clin Med. 2020 Mar 12;9(3):763. doi: 10.3390/jcm9030763.
Hereditary defects in platelet function are responsible for sometimes severe mucocutaneous hemorrhages. They are a heterogeneous group of abnormalities whose first-line diagnosis typically involves interpreting the results of in vitro light transmission aggregometry (LTA) traces. Interpretation of LTA is challenging. LTA is usually performed in specialized laboratories with expertise in platelet pathophysiology. This review updates knowledge on LTA, describing the various platelet aggregation profiles typical of hereditary platelet disorders to guide the physician in the diagnosis of functional platelet disorders.
血小板功能的遗传性缺陷有时会导致严重的黏膜皮肤出血。它们是一组异质性异常,其一线诊断通常涉及解读体外光透射聚集试验(LTA)的结果。LTA的解读具有挑战性。LTA通常在具备血小板病理生理学专业知识的专业实验室进行。本综述更新了关于LTA的知识,描述了遗传性血小板疾病典型的各种血小板聚集图谱,以指导医生诊断功能性血小板疾病。