3241 An Unusual Case of Mixed Connective Tissue Disease Presenting as Abdominal Pain

Abstract

INTRODUCTION: Mixed Connective Tissue Disease (MCTD) is a rare systemic autoimmune condition with clinical features similar to systemic lupus erythematous, dermatomyositis, sarcoidosis and rheumatoid arthritis. The diagnosis of MCTD consists of high antibody titers to U1 small nuclear ribonucleoprotein (RNP) in peripheral blood and the presence of clinical manifestations. The most common manifestations are Raynaud phenomenon, joint and muscle pain. Gastrointestinal manifestations of MCTD are less common and are usually gastroesophageal reflux disease or dysphagia. This case describes MCTD presenting as epigastric abdominal pain in a healthy woman. CASE DESCRIPTION/METHODS: The patient is a 50-year-old female with no past medical history who was referred to gastroenterology for evaluation of two months of epigastric pain that failed to improve after a thirty-day course of esomeprazole. The pain was described as “squeezing and strangling” in character. A subsequent EGD was unremarkable. The patient was noted to have a mild elevation in her ALT (38) and underwent an ultrasound that demonstrated hepatomegaly and hepatic steatosis. A serological chronic liver disease work-up was negative with the exception of ANA, which was 1:80 in a homogenous pattern. The rest of the patient's laboratory work-up was unremarkable. ANA nine months later was again positive. Anti-RNP antibody was also positive. In the setting of persistent unexplained pain, a repeat ultrasound was performed and was normal. A HIDA scan was done, which demonstrated a borderline ejection fraction of 27%. Biliary dyskinesia was not felt to be cause of the patient's pain given its character and timing. The patient was advised to see a rheumatologist regarding her positive anti-RNP antibody but failed to do so. She presented to a new PCP with continued epigastric pain and new onset arthralgia and edema. The patient was started on methylprednisolone rapid taper which resolved all of the patient's symptoms. The patient was advised to start hydroxychloroquine but she declined due to resolution of her symptoms. DISCUSSION: MCTD is a rare systemic autoimmune condition with clinical manifestations affecting multiple organ systems. Gastrointestinal involvement of MCTD is less common. In this case a previously healthy woman presented with epigastric pain and was found to have MCTD as a cause of her symptoms. This case is an unusual presentation of MCTD and is clinically important as early treatment of MCTD decreases the risk of progression to other organ systems.