血液型白塞综合征临床诊治进展

doi:10.16138/j.1673-6087.2025.04.02

摘要/Abstract

摘要：

白塞综合征是一种可累及多系统的血管炎症性疾病，累及血液系统时称为血液型白塞综合征。该类型临床罕见，医务人员认知相对不足，易造成漏诊或误诊，患者预后通常较差。本文旨在综述血液型白塞综合征的临床表型特点及治疗策略，以期为临床实践提供参考。

Abstract:

Behcet syndrome is a multi-system involved vascular inflammatory disease, it is called blood type Behcet syndrome as it involves the blood system. This type of disease is rare, and the prognosis is poor. Medical staff’s awareness of the disease is relatively insufficient, which may lead to misdiagnosis. This article reviews the clinical phenotypic characteristics and treatment strategies of blood type Behcet syndrome.

Key words: Behcet syndrome, Hematological involvement, Phenotypic characteristics, Treatment progress

中图分类号:

R593.2

申艳, 管剑龙. 血液型白塞综合征临床诊治进展[J]. 内科理论与实践, 2025, 20(04): 272-275.

SHEN Yan, GUAN Jianlong. Progress in clinical diagnosis and treatment of blood type Behcet syndrome[J]. Journal of Internal Medicine Concepts & Practice, 2025, 20(04): 272-275.

参考文献 34

[1]	Müftüoglu AU. Symposium on the hematological and immunological aspects of Behçet’s disease[J]. Haematologica, 1980, 65(3):374-380. pmid: 6778790
[2]	Jennette JC, Falk RJ, Bacon PA, et al. 2012 revised international chapel hill consensus conference nomenclature of vasculitides[J]. Arthritis Rheum, 2013, 65(1):1-11.
[3]	Nehashi Y, Torii Y, Yaguchi M, et al. Incomplete-form of Behçet disease in a case of monopathic myelodysplastic syndrome presenting as a thrombocytopenia[J]. Rinsho Ketsueki, 1988, 29(7):1097-1102. pmid: 3054202
[4]	Zou J, Luo JF, Shen Y, et al. Cluster analysis of phenotypes of patients with Behçet’s syndrome: a large cohort study from a referral center in China[J]. Arthritis Res Ther, 2021, 23(1):45.
[5]	Soejima Y, Kirino Y, Takeno M, et al. Changes in the proportion of clinical clusters contribute to the phenotypic evolution of Behçet’s disease in Japan[J]. Arthritis Res Ther, 2021, 23(1):49. doi: 10.1186/s13075-020-02406-6 pmid: 33522943
[6]	She CH, Hu D, Zou J, et al. Clinical phenotypes of adult-onset Behçet’s syndrome: a comprehensive cross-sectional study in China[J]. Clin Rheumatol, 2024, 43(7):2261-2271.
[7]	Shen Y, Ma HF, Luo D, et al. High incidence of gastrointestinal ulceration and cytogenetic aberration of trisomy 8 as typical features of Behçet’s disease associated with myelodysplastic syndrome: a series of 16 consecutive Chinese patients from the Shanghai Behçet’s disease database and comparison with the literature[J]. Biomed Res Int, 2018,2018:8535091.
[8]	马海芬, 申艳, 罗丹, 等. 白塞病合并8号染色体三体22例分析及文献复习[J]. 复旦学报(医学版), 2021, 48(4):457-462.
	Ma HF, Shen Y, Luo D, et al. Analysis of 22 cases of Behcet’s disease associated with trisomy 8 and literature review[J]. Fudan Univ J Med Sci, 2021, 48(4):457-462.
[9]	Zou J, Luo D, Shen Y, et al. Characteristics and phenotype heterogeneity in late-onset Behçet’s syndrome: a cohort from a referral center in China[J]. Clin Rheumatol, 2021, 40(6):2319-2326.
[10]	Park JB, Han SJ, Lee SB, et al. Optimal treatment approaches to intestinal Behçet’s disease complicated by Myelodysplastic syndrome: the KASID and KSBD multicenter study[J]. Yonsei Med J, 2024, 65(5):265-275.
[11]	赵婉雯. 19例儿童白塞病样8号染色体三体临床特征分析[D]. 长春: 吉林大学, 2024.
	Zhao WW. Clinical features of childhood Behçet’s disease like trisomy 8:a summary of 19 cases[D]. Changchun: Jilin University, 2024.
[12]	Ding Y, Hu W, Li L, et al. Clinical features and independent predictors of Behçet’s disease associated with myelodysplastic syndrome[J]. Clin Exp Rheumatol, 2023, 41(9):1823-1830.
[13]	Haase D. Cytogenetic features in myelodysplastic syndromes[J]. Ann Hematol, 2008, 87(7):515-526. doi: 10.1007/s00277-008-0483-y pmid: 18414863
[14]	Thachil JV, Salim R, Field A, et al. Myelodysplastic syndrome with trisomy 8 associated with Behçet syndrome: an immunologic link to a karyotypic abnormality[J]. Pediatr Blood Cancer, 2008, 50(3):649-651. pmid: 17066465
[15]	Kimura S, Kuroda J, Akaogi T, et al. Trisomy 8 involved in myelodysplastic syndromes as a risk factor for intestinal ulcers and thrombosis-Behçet’s syndrome[J]. Leuk Lymphoma, 2001, 42(1-2):115-121.
[16]	Hisamatsu T, Naganuma M, Matsuoka K, et al. Diagnosis and management of intestinal Behçet’s disease[J]. Clin J Gastroenterol, 2014, 7(3):205-212. doi: 10.1007/s12328-014-0488-0 pmid: 24883128
[17]	Chen G, Zeng W, Miyazato A, et al. Distinctive gene expression profiles of CD34 cells from patients with myelodysplastic syndrome characterized by specific chromosomal abnormalities[J]. Blood, 2004, 104(13):4210-4218. doi: 10.1182/blood-2004-01-0103 pmid: 15315976
[18]	Wesner N, Drevon L, Guedon A, et al. Gastrointestinal Behcet’s-like disease with myelodysplastic neoplasms with trisomy 8: a French case series and literature review[J]. Leuk Lymphoma, 2019, 60(7):1782-1788.
[19]	Yamazaki M, Yajima T, Tanabe M, et al. Mucosal T cells expressing high levels of IL-7 receptor are potential targets for treatment of chronic colitis[J]. J Immunol, 2003, 171(3):1556-1563. pmid: 12874249
[20]	Lee S, Choi WH, Kim JS, et al. Trisomy 8 associated Behçet’s like disease[J]. J Rheum Dis, 2021, 28(2):107-109.
[21]	Wesner N, Fenaux P, Jachiet V, et al. Behçet’s-like syndrome and other dysimmunitary manifestations related to myelodysplastic syndromes with trisomy 8[J]. Rev Med Interne, 2021, 42(3):170-176. doi: 10.1016/j.revmed.2020.08.016 pmid: 33139078
[22]	Lv Q, Li Y, Wei Q, et al. Autoinflammatory syndromes mimicking Behçet’s disease with gastrointestinal involvement: a retrospective analysis[J]. Clin Exp Rheumatol, 2024, 42(10):2076-2085.
[23]	Zhang X, Zhao Y, Pan Y, et al. Trisomy 8 presentation by inflammatory manifestations and its response to thalidomide: two case reports and narrative review[J]. Front Pediatr, 2024,12:1431511.
[24]	Fu Y, Wu W, Chen Z, et al. Trisomy 8 associated clonal cytopenia featured with acquired auto-inflammation and its response to JAK inhibitors[J]. Front Med (Lausanne), 2022,9:895965.
[25]	Okamoto T, Okada M, Mori A, et al. Correlation between immunological abnormalities and prognosis in myelodysplastic syndrome patients[J]. Int J Hematol, 1997, 66(3):345-351. pmid: 9401280
[26]	Liu Z, Yang C, Bai X, et al. Clinical features and prognosis of patients with gastrointestinal Behçet’s disease-like syndrome and myelodysplastic syndrome with and without trisomy 8[J]. Semin Arthritis Rheum, 2022,55:152039.
[27]	Kobayashi K, Ueno F, Bito S, et al. Development of consensus statements for the diagnosis and management of intestinal Behçet’s disease using a modified Delphi approach[J]. J Gastroenterol, 2007, 42(9):737-745. pmid: 17876543
[28]	Pan FY, Fan HZ, Zhuang SH, et al. Severe inflammatory disorder in trisomy 8 without myelodysplastic syndrome and response to methylprednisolone: a case report[J]. World J Clin Cases, 2023, 11(26):6206-6212.
[29]	Wei Q, Zhang X, Peng Y, et al. Successful treatment by thalidomide therapy of intestinal Behçet’s disease associated with trisomy 8 myelodysplastic syndrome[J]. Rheumatology (Oxford), 2021, 60(6):e200-e202.
[30]	Vallet H, Riviere S, Sanna A, et al. Efficacy of anti-TNF alpha in severe and/or refractory Behçet’s disease: multicenter study of 124 patients[J]. J Autoimmun, 2015,62:67-74.
[31]	Bao HF, Hou CC, Ye B, et al. Predictors of infliximab refractory intestinal Behçet’s syndrome: a retrospective cohort study from the Shanghai Behçet’s syndrome database[J]. Mod Rheumatol, 2023, 33(1):207-216.
[32]	Yilmaz U, Ar MC, Esatoglu SN, et al. How to treat myelodysplastic syndrome with clinical features resembling Behçet syndrome: a case-based systematic review[J]. Ann Hematol, 2020, 99(6):1193-1203. doi: 10.1007/s00277-020-03951-5 pmid: 32140893
[33]	Liu C, Fu C, Guo X, et al. Allogeneic hematopoietic stem cell transplantation for juvenile myelomonocytic leukemia with intestinal Behçet’s disease: a case report[J]. Int J Rheum Dis, 2024, 27(1):e14882.
[34]	Soysal T, Salihoğlu A, Esatoğlu SN, et al. Bone marrow transplantation for Behçet’s disease: a case report and systematic review of the literature[J]. Rheumatology (Oxford), 2014, 53(6):1136-1141.