An 18 year old male with 1 year of headache, dizziness, mood swings, memory dysfunction, abnormal gait, presented with 2 days of prolonged epistaxis and non-bilious vomiting for few months. He denied use of medications or substance abuse. There was no family history of liver disease or hematologic disorders. Physical exam revealed bradykinesia, dystonic oral movements with slow speech, unsteady gait, cogwheel rigidity and a flat affect. There was no significant skin bruising or organomegaly. Laboratory studies were significant for mild anemia and elevation of coagulation times with PT 15.8, PTT 40.5, and INR 1.47 seconds. AST was mildly elevated at 57 u/L, while the other liver enzymes, billirubin and hepatitis panel were normal. Serum mixing studies showed correction of elevated coagulation times. Levels of factor V and factor X were low and low-normal respectively, suggesting a primary hepatic source of coagulopathy. Serum ceruloplasmin was low at <7mg/dl (nl 20-60) and 24-hour urine copper was elevated at 99mcg (normal<40). CT abdomen revealed a normal liver and CT head showed hypodensities in both lenticular nuclei.
Ophthalmologic exam revealed corneal copper deposits consistent with Kaiser Fleisher rings. Liver biopsy showed a high hepatic copper content. The patient was started on zinc therapy for Wilson’s disease. His epistaxis resolved with with vitamin K treatment, and he was referred to hepatology for close follow-up.
Wilson’s disease is a rare autosomal recessive disorder of copper transport due a genetic mutation in the ATP7B hepatocyte copper translocase, resulting in an imbalance of copper metabolism promoting deposition in the liver, basal ganglia and the cornea. Most cases present in late childhood to early adulthood with a mix of hepatic and neurologic symptoms. Dystonia and dysarthria are common manifestations of CNS disease, while parkinsonism and psychological disturbances have been reported less frequently. Diagnosis is supported by a low level of serum ceruloplasmin, a copper binding protein, and high levels of urinary copper. Liver function tests are often abnormal while Imaging studies show abnormalities in the basal ganglia.
Whereas neurologic dysfunction as a first sign of Wilson’s is common, primary hematologic presentations are rare. We present this case of coagulopathy and neurologic dysfunction as a reminder that the clinical presentation of Wilson’s is diverse and symptoms may be subtle. Coagulopathy may be the first sign of liver dysfunction.
Conclusions: We believe this case to be of value not only because it offers a rare presentation of Wilson’s disease, but also because it reminds us to keep Wilson’s and other liver pathology in the differential diagnosis of coagulopathy. It further serves as a reminder that diverse symptoms on presentation may be derived from the same pathologic entity. In this case hematologic and neuro- psychologic dysfunction all resulted from altered copper metabolism
To cite this abstract:Cardoza D, Karim N, Dar N. It Is Not All in Your Head- an Atypical Presentation of Wilson’s Disease. Abstract published at Hospital Medicine 2015, March 29-April 1, National Harbor, Md. Abstract 471. Journal of Hospital Medicine. 2015; 10 (suppl 2). https://www.shmabstracts.com/abstract/it-is-not-all-in-your-head-an-atypical-presentation-of-wilsons-disease/. Accessed March 31, 2020.