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遗传性出血性毛细血管扩张症伴极重度血小板减少症的胃肠道出血

Gastrointestinal Bleeding in Hereditary Hemorrhagic Telangiectasia Accompanied with Very Severe Thrombocytopenia.

作者信息

Wei Yanbin, Chen Chuyan, Li Peng, Huang Dayong, Yao Xin

机构信息

Department of Gastroenterology, Beijing Digestive Disease Center, Beijing Key Laboratory for Precancerous Lesion of Digestive Disease, National Clinical Research Center for Digestive Diseases, Beijing Friendship Hospital, Capital Medical University, Beijing, China.

Department of Hematology, Beijing Friendship Hospital, Capital Medical University, Beijing, China.

出版信息

Am J Case Rep. 2025 Jun 10;26:e948068. doi: 10.12659/AJCR.948068.

Abstract

BACKGROUND Hereditary hemorrhagic telangiectasia (HHT) is a rare autosomal-dominant disorder characterized by recurrent epistaxis and gastrointestinal bleeding (GIB). To our knowledge, the management of GIB in HHT patients accompanied with very severe thrombocytopenia has not been previously reported. CASE REPORT A 66-year-old woman with HHT who experienced recurrent epistaxis for over 5 years was admitted to the hospital due to intermittent hematemesis and melena for 2 weeks. Following admission, her platelet count dropped significantly to 1×10⁹/L. Following supportive treatments, a gastroscopy was performed when the platelet count reached 23×10⁹/L. The gastroscopy revealed over 50 angioectatic spots with active bleeding. These spots were treated by argon plasma coagulation and the bleeding was stopped. She had a favorable prognosis following discharge. CONCLUSIONS This case highlights the rare coexistence of HHT, GIB, and very severe thrombocytopenia, offering insights into proton pump inhibitor (PPI)-induced thrombocytopenia. Immediate discontinuation of the involved PPI is advised. Platelet transfusion (<20×109/L) combined with recombinant human interleukin-11 is recommended for patients at risk of GIB. If PPI therapy is necessary, it is a novel and effective strategy to switch to another PPI with a different chemical structure, accompanied by close platelet monitoring.

摘要

背景 遗传性出血性毛细血管扩张症(HHT)是一种罕见的常染色体显性疾病,其特征为反复鼻出血和胃肠道出血(GIB)。据我们所知,此前尚未报道过伴有极重度血小板减少症的HHT患者的GIB治疗情况。病例报告 一名66岁患有HHT的女性,反复鼻出血超过5年,因间歇性呕血和黑便2周入院。入院后,她的血小板计数显著降至1×10⁹/L。经过支持治疗,当血小板计数达到23×10⁹/L时进行了胃镜检查。胃镜检查发现50多个血管扩张斑点并有活动性出血。这些斑点通过氩离子凝固术治疗,出血停止。出院后她预后良好。结论 本病例突出了HHT、GIB和极重度血小板减少症罕见的共存情况,为质子泵抑制剂(PPI)诱导的血小板减少症提供了见解。建议立即停用相关PPI。对于有GIB风险的患者,推荐血小板输注(<20×10⁹/L)联合重组人白细胞介素-11。如果有必要进行PPI治疗,改用化学结构不同的另一种PPI并密切监测血小板是一种新颖且有效的策略。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4c0b/12166664/d08029977e84/amjcaserep-26-e948068-g001.jpg

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