C0625 - The Diagnostic Challenge of Wilson's Disease in the Presence of Valproic Acid

Ana R. Vilela, MD, Alejandra Vargas, MD, Buyng Soo Yoo, MD, Alsiddig Elmahdi, MS
Eastern Virginia Medical School, Norfolk, VA

Introduction: Wilson’s disease (WD) is an inherited disorder of copper metabolism caused by pathological copper accumulation in different organs, particularly the liver, brain, and cornea. Toxic copper accumulation contributes to a variety of clinical conditions that may mimic other diseases or, as was observed here, might have been mistaken for valproic acid side effects.

Case Description/Methods: A 23-year-old male with autism spectrum disorder, and generalized tonic-clonic seizures presented to the emergency department with lethargy and confusion. Physical examination revealed scleral icterus, epigastric tenderness, psychomotor retardation and fine postural tremor. Initial labs showed hemoglobin 7.3 g/dL, MCV 102.7 fl, platelet count 87 K/uL, leukocytes 2.4 K/uL, total bilirubin 4.0 mg/dL, direct bilirubin 1.7 mg/dL, AST 99 IU/L, ALT 57 IU/L, and valproic acid level was 64 (normal 50-100 mcg/ml). Valproic acid was discontinued, as adverse effects were believed to be associated with it.


Patient returned with behavioral changes, insomnia, tremors and jaundice two weeks later. Labs revealed persistent pancytopenia, bilirubinemia, and transaminitis. Ammonia level was 169 and INR was 1.67. Computed tomography (CT) demonstrated splenomegaly and portal hypertension. Patient was admitted for decompensated cirrhosis and hepatic encephalopathy. Additional investigations were negative for viral and autoimmune hepatitis. Iron level and saturation level were normal. Serum ceruloplasmin level was reduced to 12.2 mg/dL (normal 18 - 50 mg/dL) and 24-hours urinary copper level was elevated to 37 μg/24 hrs (normal 3 - 35 ug/24 hr). In light of the raised suspicion for Wilson's disease, a slit lamp test was performed, and despite the absence of Kayser-Fleischer rings, a liver biopsy was performed. The latter revealed end-stage fibrosis with nodular formation, vacuolated nuclei, hepatic necrosis, and positive Prussian blue staining. After sending the samples for an exchangeable copper assay, the diagnosis of WD was confirmed.

Discussion: Wilson’s disease is an inherited copper overload disorder, which can be involved with a wide range of signs, symptoms, and tissue damage making the diagnostic process often difficult. As in this case, valproic acid's side effects closely resemble the clinical manifestations of WD including neurological, hepatic, and hematologic symptoms. Nevertheless, maintaining a high suspicion is crucial to early diagnosis and treatment.


Disclosures:


Ana R. Vilela, MD, Alejandra Vargas, MD, Buyng Soo Yoo, MD, Alsiddig Elmahdi, MS. C0625 - The Diagnostic Challenge of Wilson's Disease in the Presence of Valproic Acid, ACG 2022 Annual Scientific Meeting Abstracts. Charlotte, NC: American College of Gastroenterology.