Systemic lupus erythematosus and Down syndrome: a case report and literature review

Abstract

Introduction: Systemic lupus erythematosus (SLE) is a chronic autoimmune disease that can involve any organ system, and may lead to significant morbidity and even mortality. Down syndrome (DS) is the most frequent genetic cause of intellectual disabilities, typically caused by the presence of an extra chromosome 21. Case presentation: A 47-year-old Syrian female of DS who complained of low-grade fever, oral aphthae, fatigue, and arthralgia three months before presentation. Although the patient was diagnosed with phenotypically and gynogenically DS, a milder mosaic type was identified. She appeared fatigued with a blood pressure 110/70 mmHg, pulse 104/min, temp 100 F, having oral ulcers, tenderness of joints on palpation, haemoglobin 9.4 g/dl, white blood cells 10.9/mm3, platelets 87 000×109/cm with C-reactive protein of 2,3 mg/dl, and an erythrocyte sedimentation rate of 68. Urea 33 mg/dl with creatinine 0.9. The rest of the tests were unremarkable. Urine analysis was normal. Discussion: The prevalence of SLE in DS in the literature was found only in five cases, with different presentations, in the last 36 years. In our case the patient presented with mild lupus manifestations and responded well to steroids and hydroxychloroquine. Also, In our case, an onset of SLE in an old DS (DS female patient), whereas SLE is more frequent in childbirth-aged women, in addition to that DS patients had a short life expectancy. Conclusions: DS is associated with a predisposition to developing connective tissue disorders, especially in young females. unfortunately, patients were not diagnosed in all five cases until later with a flare because of the cognitive defect.