Glaser Cornelia, Rieg Siegbert, Wiech Thorsten, Scholz Christine, Endres Dominique, Stich Oliver, Hasselblatt Peter, Geißdörfer Walter, Bogdan Christian, Serr Annerose, Häcker Georg, Voll Reinhard E, Thiel Jens, Venhoff Nils
Department of Rheumatology and Clinical Immunology, Medical Center. Faculty of Medicine, University of Freiburg, Hugstetter Str. 55, 79106, Freiburg, Germany.
Department of Medicine II, Gastroenterology, Hepatology, Endocrinology, and Infectious Diseases, Faculty of Medicine, University Hospital Freiburg, Hugstetter Str. 55, 79106, Freiburg, Germany.
Orphanet J Rare Dis. 2017 May 25;12(1):99. doi: 10.1186/s13023-017-0630-4.
Whipple's disease, a rare chronic infectious disorder caused by Tropheryma whipplei, may present with predominant joint manifestations mimicking rheumatoid arthritis (RA).
A retrospective single-center cohort study of seven patients was performed. Clinical symptoms were assessed by review of medical charts and Whipple's disease was diagnosed by periodic-acid-Schiff-stain and/or Tropheryma whipplei-specific polymerase-chain-reaction.
Median age at disease onset was 54 years, six patients were male. Median time to diagnosis was 5 years. All patients presented with polyarthritis with a predominantly symmetric pattern. Three had erosive arthritis. Affected joints were: wrists (5/7), metacarpophalangeal joints (MCPs) (5/7), knees (5/7), proximal interphalangeal joints (PIPs) (3/7), hips (2/7), elbow (2/7), shoulder (2/7). All patients had increased C-reactive-protein concentrations, while rheumatoid factor and anti-CCP-antibodies were absent, and were initially (mis)classified as RA-patients according to EULAR/ACR-criteria (median DAS28 4.3). Six patients received antirheumatic treatment consisting of prednisone with methotrexate and/or leflunomide, three were additionally treated with at least one biologic agent (abatacept, adalimumab, etanercept, rituximab, tocilizumab). Most patients showed insufficient treatment response. In all patients Tropheryma whipplei was detected in synovial fluid by polymerase-chain-reaction; in three patients the diagnosis of Whipple's disease was further ascertained by periodic-acid-Schiff-staining. Gastrointestinal symptoms and other extra-articular manifestations were absent, mild or non-specific. Treatment was initiated with trimethoprin/sulfamethoxazole in five and doxycycline/hydroxychloroquine in two patients and had to be adapted in five patients. Finally, all patients had good treatment responses with improvement of arthritis and extra-articular manifestations.
Whipple's disease is rare and can mimic rheumatoid arthritis. Especially patients with seronegative rheumatoid arthritis with a prolonged disease course and insufficient treatment response should be reevaluated for Whipple's disease.
惠普尔病是一种由惠普尔嗜组织细胞菌引起的罕见慢性感染性疾病,可能以类似类风湿关节炎(RA)的主要关节表现形式出现。
对7例患者进行了一项回顾性单中心队列研究。通过查阅病历评估临床症状,通过过碘酸希夫染色和/或惠普尔嗜组织细胞菌特异性聚合酶链反应诊断惠普尔病。
发病时的中位年龄为54岁,6例为男性。诊断的中位时间为5年。所有患者均表现为多关节炎,主要为对称型。3例有侵蚀性关节炎。受累关节包括:腕关节(5/7)、掌指关节(MCPs)(5/7)、膝关节(5/7)、近端指间关节(PIPs)(3/7)、髋关节(2/7)、肘关节(2/7)、肩关节(2/7)。所有患者的C反应蛋白浓度均升高,而类风湿因子和抗环瓜氨酸肽抗体均阴性,根据欧洲抗风湿病联盟/美国风湿病学会标准,最初(错误)分类为RA患者(中位疾病活动度评分28 4.3)。6例患者接受了由泼尼松联合甲氨蝶呤和/或来氟米特组成的抗风湿治疗,3例患者还接受了至少一种生物制剂(阿巴西普、阿达木单抗、依那西普、利妥昔单抗、托珠单抗)治疗。大多数患者治疗反应不佳。通过聚合酶链反应在所有患者的滑液中检测到惠普尔嗜组织细胞菌;3例患者通过过碘酸希夫染色进一步确诊为惠普尔病。无胃肠道症状及其他关节外表现,或症状轻微、不具特异性。5例患者开始使用甲氧苄啶/磺胺甲恶唑治疗,2例患者使用多西环素/羟氯喹治疗,5例患者治疗方案需调整。最终,所有患者治疗反应良好,关节炎及关节外表现均有改善。
惠普尔病罕见,可类似类风湿关节炎。特别是血清阴性类风湿关节炎且病程延长、治疗反应不佳的患者,应重新评估是否为惠普尔病。