Wilson disease: Diagnostic tests
- 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) is an autosomal recessive defect in cellular copper transport. It is found worldwide, with a prevalence of approximately 1 case in 30,000 live births in most populations. Impaired biliary copper excretion leads to accumulation of copper in several organs, most notably the liver, brain, and cornea. Over time, the liver is progressively damaged and eventually becomes cirrhotic and fails. In addition, patients may develop neurologic complications, which can be severe and progressive. Establishing a diagnosis of Wilson disease is crucial since early detection and treatment may prevent disease progression and even reverse damage in some patients.
Wilson disease should be considered in any patient with unexplained liver, neurologic, or psychiatric abnormalities. In addition, first-degree relatives of patients with Wilson disease should be screened for Wilson disease. (See "Wilson disease: Clinical manifestations, diagnosis, and natural history", section on 'When to consider Wilson disease' and "Wilson disease: Clinical manifestations, diagnosis, and natural history", section on 'Screening family members'.)
This topic will review the specific diagnostic tests used in the evaluation of patients with suspected Wilson disease. The epidemiology, pathogenesis, clinical manifestations, approach to diagnosis, and treatment of Wilson disease are discussed separately. (See "Wilson disease: Epidemiology and pathogenesis" and "Wilson disease: Clinical manifestations, diagnosis, and natural history" and "Wilson disease: Treatment and prognosis".)
In patients with clinical features suggestive of Wilson disease (eg, abnormal liver tests combined with neurologic symptoms), we start by obtaining liver biochemical tests, a complete blood count, serum ceruloplasmin and copper levels, an ocular slit-lamp examination, and a 24-hour urinary copper excretion. The results of these tests may be sufficient to make a diagnosis of Wilson disease (or to exclude it), but patients with indeterminate results will require additional testing, such as a liver biopsy with copper quantitation or molecular testing for ATP7B mutations.
The general approach to diagnosing Wilson disease, including when to obtain additional testing, is discussed separately. (See "Wilson disease: Clinical manifestations, diagnosis, and natural history", section on 'Diagnosis'.)
Subscribers log in hereTo continue reading this article, you must log in with your personal, hospital, or group practice subscription. For more information or to purchase a personal subscription, click below on the option that best describes you:Literature review current through: Jul 2017. | This topic last updated: Dec 01, 2015.References
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- DIAGNOSTIC APPROACH
- SERUM CERULOPLASMIN CONCENTRATION
- Limitations of serum ceruloplasmin
- SERUM COPPER CONCENTRATION
- OCULAR SLIT-LAMP EXAMINATION
- Kayser-Fleischer rings
- Sunflower cataracts
- URINARY COPPER EXCRETION
- Penicillamine challenge
- ADDITIONAL TESTING
- Liver biopsy
- - Hepatic copper concentration
- - Liver histology
- Genetic testing
- Brain imaging
- Scoring system for establishing a diagnosis of Wilson disease
- SUMMARY AND RECOMMENDATIONS