Don C. Rockey

A Novel Homozygous ATP7B Splice-Site Variant Causes Late-Onset Hepatic Wilson Disease

ABSTRACT Wilson disease (WD) is a rare disorder that may be missed because of atypical presentations. We present a 47-year-old asymptomatic man who was incidentally discovered to have hepatic steatosis and cirrhosis without features of the metabolic syndrome and with normal physical examination and liver function tests. Very low ceruloplasmin and high urine copper prompted evaluation for WD. He had no Kayser–Fleischer rings. Genetic testing revealed a novel homozygous splice-site ATP7B variant (NM_000053.2:c.1707+2dupT p.(?)), the first reported case of homozygosity for this mutation. This case highlights the importance of considering WD in patients with unexplained hepatic steatosis and cryptogenic cirrhosis.