Saqib Maleeha, Shahbaz Nighat, Malik Mustafa
Internal Medicine, Shifa International Hospital, Islamabad, PAK.
Clinical Hematology, National Institute of Bone Marrow Transplant, Rawalpindi, PAK.
Cureus. 2024 May 22;16(5):e60875. doi: 10.7759/cureus.60875. eCollection 2024 May.
Rhupus syndrome is an autoimmune disorder that combines the symptoms of lupus and rheumatoid arthritis. It is a rare condition that affects the connective tissues of the body such as the joints, muscles, and skin. The symptoms of rhupus syndrome can be similar to those of lupus, including joint pain, fatigue, and skin rashes. However, rhupus syndrome can also cause symptoms of rheumatoid arthritis, such as joint stiffness and swelling. Treatment for rhupus syndrome usually involves a combination of medications and lifestyle changes to manage symptoms and improve the overall quality of life. A 24-year-old female patient was referred by a local physician for evaluation of pancytopenia. Her history dates back to six months when she developed progressive fatigue, dyspnea on mild exertion, and polyarthralgia. Initial laboratory investigations revealed pancytopenia, positive antinuclear antibodies (ANA), anti-double-stranded DNA (anti-dsDNA), and anti-cyclic citrullinated peptide (anti-CCP) antibodies. Bone marrow examination confirmed the diagnosis of aplastic anemia. She was started on cyclosporine with an aim to maintain a trough level between 200 and 250 ng/mL. She responded well with hematological recovery in three to four months. This case highlighted the excellent response to cyclosporine hematologically and clinically in rhupus syndrome complicated with aplastic anemia. Further studies are required to establish the long-term efficacy of cyclosporine in this patient population.
混合性结缔组织病是一种自身免疫性疾病，兼具狼疮和类风湿性关节炎的症状。它是一种罕见病症，会影响身体的结缔组织，如关节、肌肉和皮肤。混合性结缔组织病的症状可能与狼疮相似，包括关节疼痛、疲劳和皮疹。然而，混合性结缔组织病也会引发类风湿性关节炎的症状，如关节僵硬和肿胀。混合性结缔组织病的治疗通常包括药物治疗和生活方式改变的结合，以控制症状并提高整体生活质量。一名24岁女性患者由当地医生转诊来评估全血细胞减少症。她的病史可追溯到六个月前，当时她出现进行性疲劳、轻度活动时呼吸困难和多关节痛。初步实验室检查显示全血细胞减少、抗核抗体（ANA）、抗双链DNA（抗dsDNA）和抗环瓜氨酸肽（抗CCP）抗体呈阳性。骨髓检查确诊为再生障碍性贫血。她开始使用环孢素，目标是维持谷浓度在200至250 ng/mL之间。她在三到四个月内血液学恢复良好，反应良好。该病例突出了环孢素在混合性结缔组织病合并再生障碍性贫血患者中血液学和临床上的良好反应。需要进一步研究以确定环孢素在该患者群体中的长期疗效。
