Adewuya Oladapo A, Adebayo Rasaaq A, Ajibade Adeola I, Odunlami Gbenga J, Akintomide Anthony O, Ogunyemi Suraj A, Ajayi Olufemi E, Adetiloye Adebola O, Omisore Adeleye D, Olanipekun Oladipo A, Owolabi Adeyinka O, Amjo Ifeoluwa, Akinyele Olumide A, Bamgboje Abayomi O, Balogun Michael O
Department of Cardiology,
Department of Rheumatology.
Int Med Case Rep J. 2018 Nov 2;11:307-312. doi: 10.2147/IMCRJ.S151693. eCollection 2018.
Mixed connective tissue disease (MCTD; also known as Sharp's syndrome) is a rare autoimmune inflammatory disorder characterized by high titer of U1 ribonucleoprotein (U1RNP) antibody and clinical and serological overlap of systemic lupus erythematosus, systemic sclerosis, and polymyositis. The diagnosis is based on clinical and serological factors in criteria such as Alarcon-Segovia, Khan, Kusakawa, and Sharps. Cardiac disease can be a complication of connective tissue disease (CTD). There are few reports in Africa.
To present MCTD as underlying cause of heart failure with reduced ejection fraction and highlight challenges of investigations and treatment.
To highlight the first case in our center and discuss the cardiac, respiratory, and rheumatologic management.
We present a 52-year-old woman with 3 weeks history of productive cough with whitish sputum, severe dyspnea, orthopnea, paroxysmal nocturnal dyspnea, right sided abdominal pain, leg swellings, a one year history of recurrent fever, Raynaud's phenomenon, small joint swellings and deformities with pain in both hands.
On examination there was microstomia, tethered forehead and lower eyelid skin, tender swelling of the interphalangeal joints and arthritis mutilans. Laboratory findings showed estimated glomerular filtration rate <60 mL/kg/min/1.73 m, U1RNP antibody levels were eight times upper limit of normal, elevated rheumatoid factor, speckled antinuclear antibody pattern, negative anticentromere antibody, anti Scl-70 and anticyclic citrullinated peptide. Chest X-ray/CT revealed pulmonary fibrosis. Echocardiography findings showed reduced ejection fraction of 40%, elevated pulmonary arterial pressure at rest of 60.16 mmHg. The patient showed improvement on antifailure drugs, but prednisolone was stopped for sudden reversal of previously controlled stage 2 hypertension (HTN), and the patient was discharged in a stable condition. Difficulties ensued in obtaining prompt definite results due to the unavailability of serologic tests in the hospital, and the tests were done outside the state and country.
Identifying MCTD is critical, especially in patients requiring steroids that may worsen systemic HTN and heart failure. There is a need to have definitive investigative facilities for such patients in hospitals.
混合性结缔组织病（MCTD；也称为夏普综合征）是一种罕见的自身免疫性炎症性疾病，其特征为高滴度的U1核糖核蛋白（U1RNP）抗体，以及系统性红斑狼疮、系统性硬化症和多发性肌炎的临床和血清学重叠。诊断基于阿拉孔 - 塞戈维亚、汗、久坂和夏普等标准中的临床和血清学因素。心脏疾病可能是结缔组织病（CTD）的并发症。在非洲此类报道较少。
将MCTD作为射血分数降低的心力衰竭的潜在病因进行阐述，并强调检查和治疗方面的挑战。
突出我们中心的首例病例，并讨论心脏、呼吸和风湿科的管理。
我们报告一名52岁女性，有3周咳痰史，痰为白色，伴有严重呼吸困难、端坐呼吸、阵发性夜间呼吸困难、右侧腹痛、腿部肿胀，有1年反复发热、雷诺现象、小关节肿胀和畸形且双手疼痛的病史。
检查发现有小口症、额头和下眼睑皮肤紧绷、指间关节压痛性肿胀和残毁性关节炎。实验室检查结果显示估算肾小球滤过率<60 mL/kg/min/1.73 m²，U1RNP抗体水平是正常上限的8倍，类风湿因子升高，斑点型抗核抗体模式，抗着丝点抗体、抗Scl - 70和抗环瓜氨酸肽阴性。胸部X线/CT显示肺纤维化。超声心动图检查结果显示射血分数降低至40%，静息肺动脉压升高至60.16 mmHg。患者使用抗心力衰竭药物后有所改善，但由于先前控制的2级高血压突然逆转，泼尼松龙停药，患者出院时病情稳定。由于医院无法进行血清学检测，检测在州外和国外进行，因此难以迅速获得明确结果。
识别MCTD至关重要，尤其是在需要使用可能会加重系统性高血压和心力衰竭的类固醇药物的患者中。医院需要为这类患者配备明确的检查设施。
