惠普尔病的一种不寻常的表现:腺病、多关节痛和皮肌炎样症状

Q4 Biochemistry, Genetics and Molecular Biology Exploration of medicine Pub Date : 2022-12-27 DOI:10.37349/emed.2022.00113
Randa Choueiry, Joelle Faddoul, Jacqueline Najjar, C. Ghorra, Josiane Mansour, Neemtallah Safi, J. Amara
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引用次数: 0

摘要

惠普尔病(Whipple 's disease, WD)是一种罕见的由革兰氏阳性芽孢杆菌引起的全身性疾病,以肠上皮为主。它的表现不仅局限于胃肠道,还会影响关节、肌肉和皮肤。这是一例54岁男性患者,有慢性关节炎病史,表现为双侧进行性小腿疼痛、胫骨前色素沉着、关节疼痛、贫血和体重减轻。他被误诊为类风湿关节炎,为此他接受了免疫抑制剂治疗数年,没有任何改善。经进一步检查,患者发现多发性腹膜后和肠系膜腺病变,腹腔镜检查时偶然发现肠间质肿块,活检显示组织细胞增多和大量胞质内颗粒呈周期性酸-希夫(PAS)阳性,提示WD诊断。内窥镜检查和肠道组织聚合酶链反应(PCR)证实了WD的诊断。患者随后接受抗生素治疗(头孢曲松和甲氧苄啶-磺胺甲恶唑),临床改善显著。意识到WD是吸收不良、肌肉骨骼和皮肤异常的潜在病因,是确定诊断并提供适当治疗的第一步,从而提高患者的生活质量。WD是一种罕见的,没有抗生素治疗的致命全身性传染病,由普遍存在的革兰氏阳性细菌惠氏滋养菌引起。这篇文章的目的是报告一个病例标记与皮肌炎样表现,有一个错过和延误诊断。
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An unusual presentation of Whipple’s disease: adenopathies, polyarthralgia and dermatomyositis-like symptoms
Whipple’s disease (WD) is a rare systemic disease caused by gram-positive bacillus bacteria that invades multiple organs mainly the intestinal epithelium. Its manifestation is not only limited to the gastrointestinal tract but it also affects the joints, muscle and skin. This is a case of a 54-year-old male patient with a medical history of chronic arthritis presenting with bilateral progressive calves pain, anterior tibial hyperpigmentation, joints pain, anemia and weight loss. He was misdiagnosed as rheumatoid arthritis, for which he was treated by immunosuppressors for several years with no amelioration. After advanced investigations, he was found to have multiple retroperitoneal and mesenteric adenopathies, with an incidental finding of a mesojejunal mass during laparoscopy, from which the biopsies revealed the presence of histiocytosis and numerous intra-cytoplasmic particles with positive periodic acid–Schiff (PAS) suggesting the diagnosis of WD. Endoscopy was done and intestinal histology with polymerase chain reaction (PCR) test confirmed the diagnosis of WD. The patient was then treated with antibiotics (ceftriaxone and trimethoprim-sulfamethoxazole) with a remarkable clinical amelioration. To be aware of WD as a potential etiology behind malabsorption, musculoskeletal and skin abnormalities, is the first step in order to establish the diagnosis and provide adequate treatment, thus, improving the patient’s quality of life. WD is a rare, without antibiotic treatment deadly systemic infectious disease caused by the ubiquitary Gram-positive bacterium Tropheryma whipplei. This article aims to report a case marked with dermatomyositis like presentation that had a missed and delayed diagnosis.
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审稿时长
13 weeks
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