Department of Internal Medicine, University of Pavia – IRCCS Policlinico San Matteo Foundation, Pavia, Italy.
Hamostaseologie. 2012;32(4):259-70. doi: 10.5482/ha12050001. Epub 2012 Sep 13.
The chapter of inherited thrombocytopenias has expanded greatly over the last decade and many "new" forms deriving from mutations in "new" genes have been identified. Nevertheless, nearly half of patients remain without a definite diagnosis because their illnesses have not yet been described. The diagnostic approach to these diseases can still take advantage of the algorithm proposed by the Italian Platelet Study Group in 2003, although an update is required to include the recently described disorders. So far, transfusions of platelet concentrates have represented the main tool for preventing or treating bleedings, while haematopoietic stem cell transplantation has been reserved for patients with very severe forms. However, recent disclosure that an oral thrombopoietin mimetic is effective in increasing platelet count in patients with MYH9-related thrombocytopenia opened new therapeutic perspectives. This review summarizes the general aspects of inherited thrombocytopenias and describes in more detail MYH9-related diseases (encompassing four thrombocytopenias previously recognized as separate diseases) and the recently described ANKRD26-related thrombocytopenia, which are among the most frequent forms of inherited thrombocytopenia.
过去十年中，遗传性血小板减少症的章节得到了极大的扩展，许多源自“新”基因突变的“新”形式已经被确定。然而，仍有近一半的患者没有明确的诊断，因为他们的疾病尚未被描述。这些疾病的诊断方法仍然可以利用意大利血小板研究小组于 2003 年提出的算法，尽管需要更新以包括最近描述的疾病。到目前为止，血小板浓缩物的输注一直是预防或治疗出血的主要手段，而造血干细胞移植则保留给非常严重形式的患者。然而，最近发现一种口服血小板生成素模拟物可有效增加 MYH9 相关血小板减少症患者的血小板计数，为治疗带来了新的前景。这篇综述总结了遗传性血小板减少症的一般方面，并详细描述了 MYH9 相关疾病（包括以前被认为是四种独立疾病的血小板减少症）和最近描述的 ANKRD26 相关血小板减少症，这些疾病是遗传性血小板减少症中最常见的形式之一。
