Institut für Immunologie und Transfusionsmedizin, Universitätsmedizin Greifswald, Greifswald, Germany.
J Thromb Haemost. 2019 Mar;17(3):551-554. doi: 10.1111/jth.14377. Epub 2019 Feb 3.
Inherited platelet disorders can affect "only platelets", occur as a "syndromic phenotype" or be associated with "increased risk of hematological malignancies". Genetic testing is attractive for diagnosis of inherited platelet disorders. However, many physicians who refer patient blood for genetic testing are unaware of the association of certain inherited platelet disorders with other risks. Inherited platelet disorders associated with minor-moderate bleeding rarely cause patient distress. In contrast, identification of a mutation associated with an increased risk of leukemia may cause a major psychological disease burden, without offsetting the beneficial impact on management. Guidelines recommend postponing genetic testing "until the patient reaches adulthood or at least until the child is mature enough to participate in decision making". In our opinion, outside research, (genetic) testing in children with inherited platelet disorders should only be performed if it influences management. In adults, genes causing inherited platelet disorders associated with an increased risk of hematological malignancies should only be tested after obtaining explicit informed consent.
遗传性血小板疾病可影响“仅血小板”，表现为“综合征表型”，或与“血液恶性肿瘤风险增加”相关。遗传检测对于诊断遗传性血小板疾病具有吸引力。然而，许多将患者血液送检进行遗传检测的医生并不知道某些遗传性血小板疾病与其他风险之间存在关联。遗传性血小板疾病与轻度至中度出血相关，很少引起患者不适。相比之下，识别与白血病风险增加相关的突变可能会导致重大的心理疾病负担，而不会对管理产生有益影响。指南建议“等到患者成年或至少等到孩子足够成熟能够参与决策时”再进行遗传检测。在我们看来，除了研究之外，如果遗传性血小板疾病患儿的检测结果会影响管理，才应进行（遗传）检测。在成年人中，只有在获得明确的知情同意后，才应检测与血液恶性肿瘤风险增加相关的遗传性血小板疾病相关基因。
