免疫性血栓性血小板减少性紫癜1例报告及文献复习

doi:10.13481/j.1671-587X.20240628

摘要/Abstract

摘要：

目的分析1例免疫性血栓性血小板减少性紫癜（iTTP）患者的临床特点、干预时机、诊治方案和预后等因素，为该类罕见病的精准诊疗提供更多临床依据。方法收集1例既往接受病毒灭活疫苗后早期被误诊为急性感染的iTTP患者的临床资料，包括临床表现和辅助检查资料，并进行相关文献复习。结果患者，男性，60岁，因“发热6 d”入院，查体下肢散在红色斑丘疹，早期仅有血小板轻度减少，入院时PLASMIC评分为5分。入院诊断急性感染，给予消炎、抗感染和激素等治疗效果不佳，1周后复查血常规血小板明显减少，并随病情进展逐渐表现为严重的血小板减少、血尿、酱油色尿和神经及精神症状。完善相关检查，重新评估PLASMIC评分为7分。高度疑诊iTTP后立即启动治疗性血浆置换（TPE），治疗过程中含血栓形成素1型结构域的血管性血友病因子裂解酶ADAM金属肽酶13（ADATMS13）活性水平<1%，ADAMTS13抑制物检测结果为阳性，基因检测存在iTTP易感基因的错义突变。诊断明确后规律应用利妥昔单抗静脉注射，完成4个周期的治疗并随访至今，评估病情治疗有效。结论 iTTP常由于首诊临床症状不典型导致病情延误，一旦疑诊应立即启动以TPE和糖皮质激素为基础的治疗，利妥昔单抗等新药为iTTP多学科综合诊治策略提供了新选择。

关键词: 血栓性血小板减少性紫癜, 临床分析, 血浆置换, 利妥昔单抗

Abstract:

Objective To discuss the clinical characteristics， intervention timing， diagnosis and treatment plan， and prognosis of one patient with immune thrombotic thrombocytopenic purpura （iTTP）， and to provide more clinical evidences for the precise diagnosis and treatment of this rare disease. Methods The clinical data of one patient with iTTP were collected， who had been previously misdiagnosed with acute infection after receiving a virus-inactivated vaccine. The data included clinical manifestations and ancillary examination informations. The relevant literatures were reviewed. Results The patient， a 60-year-old male， was admitted with “fever for 6 d.” The physical examination results showed scattered red maculopapules on the lower limbs， with only mild thrombocytopenia initially， and the admission PLASMIC score was 5 points. Initially diagnosed with acute infection， the patient was treated with anti-inflammatory， anti-infective， and corticosteroid therapies， but the response was poor. After one week， the re-evaluation results showed a significant decrease in the platelet count， progressing to severe thrombocytopenia， hematuria， dark-colored urine， and neurological and psychiatric symptoms as the disease progressed. The further examination results showed the PLASMIC score was increased to 7 points. After high suspicion of iTTP， therapeutic plasma exchange （TPE） was initiated immediately. The a disintegrin and metalloproteinase with thrombospondin type 1 motif member 13（ADATMS13） activity level was<1% during treatment， and the test for ADAMTS13 inhibitors was positive. The genetic testing results revealed a missense mutation in an iTTP-susceptible gene. After a confirmed diagnosis， the patient was treated regularly with intravenous rituximab， completing four treatment cycles， and followed up to the present； the treatment deemed effective. Conclusion iTTP is often delayed in the diagnosis due to atypical initial clinical symptoms. Once suspected， the treatment based on TPE and glucocorticoids should be initiated immediately. New drugs like rituximab provide a multidisciplinary treatment strategy option for iTTP.

Key words: Thrombotic thrombocytopenic purpura, Clinical analysis, Plasma exchange, Rituximab

中图分类号:

R736.1

王凌宇,沈卫章,谈磊,李金梁. 免疫性血栓性血小板减少性紫癜1例报告及文献复习[J]. 吉林大学学报(医学版), 2024, 50(6): 1734-1740.

Lingyu WANG,Weizhang SHEN,Lei TAN,Jinliang LI. Diagnosis of immune thrombotic thrombocytopenic purpura: A case report and literature review[J]. Journal of Jilin University(Medicine Edition), 2024, 50(6): 1734-1740.

图/表 3

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