Wilson disease: Epidemiology and pathogenesis
- Michael L Schilsky, MD, FAASLD
Michael L Schilsky, MD, FAASLD
- Medical Director, Adult Liver Transplant
- Yale-New Haven Transplantation Center
- Associate Professor of Medicine and Surgery, Digestive Diseases and Transplantation and Immunology
- Yale University Medical Center
- Section Editors
- Elizabeth B Rand, MD
Elizabeth B Rand, MD
- Section Editor — Pediatric Hepatology
- Professor of Pediatrics
- University of Pennsylvania School of Medicine
- Bruce A Runyon, MD
Bruce A Runyon, MD
- Section Editor — Cirrhosis and Its Complications
- Clinical Professor of Medicine
- University of New Mexico, Division of Gastroenterology and Hepatology
- Special Hepatology Consultant to the Indian Health Service
- Northern Navajo Medical Center, Shiprock, New Mexico
- Michael J Aminoff, MD, DSc
Michael J Aminoff, MD, DSc
- Editor-in-Chief — Neurology
- Section Editor — Medical Neurology
- Professor of Neurology
- University of California, San Francisco School of Medicine
Wilson disease (hepatolenticular degeneration) results from a defect in hepatocellular copper transport, leading to the accumulation of copper in the liver and other tissues, including the brain. Over time, the damage from the accumulation of copper results in the hepatic, neurologic, and psychiatric manifestations of Wilson disease.
This topic will review the epidemiology and pathogenesis of Wilson disease. The clinical manifestations, diagnosis, and treatment of Wilson disease are discussed separately. (See "Wilson disease: Clinical manifestations, diagnosis, and natural history" and "Wilson disease: Diagnostic tests" and "Wilson disease: Treatment and prognosis".)
Wilson disease is found worldwide, with an estimated prevalence of 1 case per 30,000 live births in most populations . More recent data from population screening by molecular sequencing in the United Kingdom suggest a potentially higher prevalence, perhaps as frequent as 1 case in 7021 . Assuming a prevalence of 1 in 10,000 to 30,000, approximately 1 person in 90 carries an abnormal copy of the ATP7B gene. However, in some isolated populations, the prevalence is much higher. One of the highest reported prevalences was from a small mountain village on the island of Crete, where Wilson disease was diagnosed in 1 in 15 births . The increased prevalence was likely due to high rates of consanguinity in the isolated area.
Some studies suggest that men and women are equally affected, though women are more likely than men to develop acute liver failure due to Wilson disease [4-6]. However, a large registry study of 627 patients with Wilson disease found that there was a slight male predominance (52 percent) . At the time of diagnosis, among patients who were symptomatic, men were more likely than women to have neuropsychiatric disease (75 versus 58 percent) and were less likely to have hepatic disease (25 versus 41 percent). (See "Wilson disease: Clinical manifestations, diagnosis, and natural history", section on 'Acute hepatitis and acute liver failure'.)
Overview — Dietary copper intake is approximately 1 to 2 mg per day . Copper is absorbed in the stomach and duodenum, binds mainly to circulating albumin, and is taken up by various tissues [9-11]. The daily requirement for copper is approximately 0.75 mg. Excess copper is predominantly excreted into the bile, where it ends up as fecal copper. Renal losses account for only 5 to 15 percent of the daily excretion of copper. (See "Overview of dietary trace minerals", section on 'Copper'.)
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