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VIDEO DOI: https://doi.org/10.48448/ba41-wr91

poster

AMA Research Challenge 2024

November 07, 2024

Virtual only, United States

The Importance of Longterm Management of Mixed Connective Tissue Disease: A Case Report

Intro Mix connective tissue disease (MCTD) is a rare autoimmune disease consisting of at least two of the following connective tissue diseases: systemic lupus, systemic sclerosis, polymyositis, dermatomyositis, and rheumatoid arthritis. Anti-U1-ribonucleoprotein is present. Case A 45-year-old female with PMH of MCTD presents to the hospital after routine lab work showed low hemoglobin. The patient went to urgent care for a cough; labs showed low hemoglobin, and the patient was recommended to go to ED. She had an MCTD flare three months ago and followed up with a rheumatologist. Since her flare-up a few months ago, she has been taking both methotrexate and dapsone, along with a prednisone taper, currently taking prednisone 10mg daily. She reported a 20-pound weight loss over the past three months due to poor appetite during a recent flare. She denies any history of fevers, chills, chest pain, shortness of breath, abdominal pain, constipation, diarrhea, numbness, tingling, or joint pain. The patient denies any history of epistaxis, hematemesis, melena, hematochezia, menorrhagia, or recent traumas. Results The patient was admitted for a blood transfusion and workup for anemia. Rheumatology and hematology/oncology were consulted for MCTD and anemia workup. During her hospital stay, the patient's lab work demonstrated the development of several autoimmune conditions along with her original diagnosis of MCTD, which led to pulmonology and nephrology being consulted. Based on labs and imaging, anemia of chronic disease, autoimmune hepatitis, lupus nephritis, and pleural effusion were found, requiring extensive outpatient follow-up with Rheumatology, Pulmonology, Hematology/Oncology, Nephrology, and her Primary Care physician. Conclusion/discussion Mixed connective tissue disease can be a curable condition but can also have a life-threatening presentation. The prognosis depends on which organs are affected, with pulmonary hypertension being the most common cause of death. The mortality rate varies between 8%-36%. Patient education is vital in controlling this disease and managing someone’s quality of life. MCTD needs to be managed by an interprofessional team to address each organ being affected and have regular follow-ups. Without regular follow-up, MCTD patients can have disease progression and further complications. In the case presented, the patient requires four referrals to specialists and a follow-up with her PCP.

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