Case Presentation: A 23-year-old male with a past medical history of systemic lupus erythematosus presented to the emergency department with a chief complaint of blurred vision. His blurred vision was ongoing for several months and was not associated with any pain. The patient had recently been seen at an outpatient ophthalmology clinic where he was diagnosed with optic nerve edema. Vitals in the emergency department were significant for a blood pressure of 144/90 mmgHg but were otherwise normal, and physical exam was notable for ill appearance, scaly skin, and significantly impaired vision bilaterally. Ophthalmology was consulted in the ED. Recommendations included lumbar puncture with fluid analysis and high-dose steroids. Two attempts at a lumbar puncture in the ED were made. With each attempt, providers were able to feel the needle go into the subarachnoid space, but fluid was unable to be collected. Dehydration was suspected, and one liter of sodium lactate solution were administered along with one gram of IV methylprednisolone. The patient was then admitted in stable condition. On admission, labs demonstrated anemia, hypoalbuminemia, an alkaline phosphatase of 2,265 U/L, an aspartate aminotransferase of 97 U/L, an alanine aminotransferase of 95 U/L, a gamma glutamyl transferase of 1,627 U/L, and a negative SARS-CoV-2 NAAT. While admitted, ophthalmology, rheumatology, and gastroenterology/hepatology were consulted to provide recommendations for care. Additional labs after admission were significant for an LDH of 528 U/L on day two of admission, and a serum ferritin of 5,075.0 ng/mL. A liver biopsy from day four of admission demonstrated ductopenia, iron overload, and periportal fibrosis and bridging. Prednisone was started while admitted to reduce immune inflammation of the optic nerves and liver. By day eight of admission, the patient began to show improvement in symptoms. Based on the clinical findings and response to treatment, the patient was diagnosed with vanishing bile duct syndrome and optic neuritis.
Discussion: These findings were consistent with vanishing bile duct syndrome, which is traditionally associated with drug-induced liver injury, cystic fibrosis, alpha-1 antitrypsin deficiency, cholangitis, malignancy, and immune-mediated disorders. It can also be idiopathic. Systemic lupus erythematosus is a multisystemic disease; however, this patient’s presentation is unusual for the condition. The limited number of similar reported cases may be a result of this pathology being unrecognized or underreported. Here, we present this case to increase awareness among practitioners to consider this as a diagnosis in a patient with unexplained liver injury findings in the setting of chronic lupus. This case highlights the need for more research regarding immune-mediated liver damage.
Conclusions: Vanishing bile duct syndrome may occur in the setting of a multisystemic disease, such as an acute lupus flare. A lack of similar reported cases may indicate this pathology is underreported or underrecognized. Additional research on immune-mediated liver damage in SLE flares should be considered to continue to increase awareness of the pathology of this condition.