Case 2: Chest pain in an adolescent

A 16-year-old boy was referred to cardiology for chest pain. He initially presented to the emergency department with a one-week history of fevers, malaise, joint pain, dry mouth, dyspnea on exertion and pleuritic chest pain. Over the following two weeks, he developed joint swelling, increasing fatigue, and a bullous rash on his torso and limbs that later desquamated after four days. There was no history of dry eyes, nasal or mouth sores, Raynaud’s phenomenom, alopecia, neurological or gastrointestinal symptoms. Medical history included a self-limited episode of unilateral parotid swelling, diagnosed as mumps during a visit to India two years previously. There was no recent travel history or infectious contacts. Family history revealed a maternal grandmother with rheumatoid arthritis. On examination, vital signs as well as cardiovascular and respiratory function were normal. Desquamation was visible over the arms and hands. Radiocarpal and interphalangeal joint tenderness and mild swelling along the tail of the right parotid gland were present. Further testing revealed a hemoglobin level of 120 g/L (normal 130 g/L to 170 g/L), a white blood cell count of 3.2x109/L (normal 4.5x109/L to 12x109/L), with a neutrophil count of 1.8x109/L (normal 2x109/L to 8x109/L), erythrocyte sedimentation rate of 61 mm/h (normal 0 mm/h to 10 mm/h), C-reactive protein level of 9.4 mg/L (normal 0 mg/l to 8 mg/L) and serum immunoglobulin G (IgG) of 26.31 g/L (normal 6.8 g/L to 18 g/L). Antinuclear antibody (ANA) titre was 1:640 with a speckled pattern. Rheumatoid factor test was positive. Throat swab was negative. Initially, troponin T was elevated at 0.13 ug/L (normal <0.02 ug/L) and echocardiogram showed wall motion abnormalities with a small pericardial effusion. Both normalized within one month. Additional blood tests revealed the diagnosis. The sicca symptom (dry mouth), the swelling of the tail of his parotid gland, the positive rheumatoid factor, the markedly elevated IgG level, and the history of parotid swelling, raised the possibility of Sjögren’s syndrome. Extractable nuclear antigen testing revealed negative tests for anti-Ro/SS-A and anti-La/SS-B antibodies, but a high positive result for antiribonucleoprotein-antibody, and a moderately positive result for Anti-Smith antibody. Anti-ds DNA antibody testing was weakly positive by Farr assay, but negative by Crithidia technique. The patient was started on prednisone, hydroxychloroquine, and azathioprine (Imuran, GlaxoSmithKline, USA) and rapidly improved. Within eight weeks, he had become asymptomatic. The final diagnosis was believed to be systemic lupus erythematosus (SLE) with Sjögren’s manifestations (dry mouth and parotid swelling), with the differential including mixed-connective tissue disease. SLE most commonly presents in women in their 20s to 40s. Children most commonly present with fever, arthritis and rash. Severe SLE tends to involve the renal, neurological or hematological systems. Less common presentations include abdominal pain, parotitis and ocular involvement such as retinopathy, papillities and keratitis (1). Sjögren’s syndrome is an autoimmune disorder involving lymphocytic infiltration of the salivary and lacrimal glands. Sjögren’s syndrome can present as a primary disease or as secondary Sjögren’s, typically in association with SLE or rheumatoid arthritis. Important immunological markers include elevated rheumatoid factor, positive ANA, presence of SS-A/SS-B antibodies and isolated elevated IgG levels. Anti-RNP is typically present in mixed-connective tissue disease (2). Sjögren’s syndrome most commonly presents in women in their 50s to 60s. Primary disease is rare in children, however, secondary Sjögren’s associated with other autoimmune disease is seen. When Sjögren’s presents in childhood, the primary complaint tends to be bilateral parotid swelling. Children usually do not meet the adult diagnostic criteria for Sjögren’s syndrome, and sicca symptoms are infrequent. Complaints of a sore throat are almost always infectious in the paediatric population, but the history of a dry throat and, especially, the need to drink fluid to swallow food, suggests sicca syndrome rather than an infectious oropharyngitis. Initial presentations of autoimmune diseases can be difficult to diagnose and, as the symptoms evolve, the diagnosis may only be identified over time. Both systemic juvenile idiopathic arthritis and SLE can present with pericarditis, myocarditis and valvular involvement; early onset coronary artery disease can also be a complication of SLE. Cardiac manifestations of inflammatory disease can be lethal when myocarditis leads to conduction abnormalities with arrhythmias and the risk of sudden cardiac death. Pericardial effusions can rapidly progress to cardiac tamponade, albeit rarely. Primary Sjögren’s cardiac manifestations in adults include asymptomatic pericarditis and left ventricle dilation with impaired diastolic function, but there is a paucity of literature regarding cardiac involvement in the paediatric population. Considering the frequent risk of cardiac involvement and the risk for serious complications, a child with suspected systemic auto-immune disease should be evaluated for significant cardiac involvement, and an electrocardiogram and echocardiogram should be considered. Bloodwork, including cardiac troponins and creatine kinase, should also be considered on an individual basis. Systemic inflammatory diseases may be difficult to diagnose initially, and symptoms may evolve slowly over time. Cardiac manifestations can be seen in systemic inflammatory disease and, therefore, necessitate cardiac workup and transthoracic echocardiograms should be completed when these manifestations are suspected. SLE may present atypically in the paediatric population. As seen in the present case, SLE can present with myocarditis, pericarditis and parotitis. Bilateral parotid swelling is the most common presentation of Sjögren’s syndrome in the paediatric population. Sore throats are not always infectious. If a child complains of needing water to consume food, consider sicca syndrome. If a patient presents with complaints of a dry mouth on history, consider sicca syndrome.

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