2025 ICD-10-CM code E83.01
Wilson's disease. This is a rare genetic disorder characterized by impaired copper excretion, leading to copper accumulation in the liver, brain, and other organs.
Medical necessity for services related to Wilson's disease stems from the potential for severe organ damage and neurological complications if left untreated. Timely diagnosis and management through medication, dietary changes, or other interventions are crucial to mitigating the progression of the disease and preventing irreversible damage.
Diagnosis and management of Wilson's disease typically fall under the purview of specialists such as hepatologists, neurologists, and geneticists. They conduct a thorough evaluation, including physical examination, blood tests for ceruloplasmin and copper levels, liver function tests, and sometimes genetic testing, to confirm the diagnosis. Treatment focuses on reducing copper levels through chelating agents like D-penicillamine or trientine, or using zinc to block copper absorption. Dietary copper restriction is also often advised. Supportive care for neurological and psychiatric symptoms is equally important.
- 4: Endocrine, Nutritional and Metabolic Diseases (E00-E89)
- E83-E83.9: Disorders of mineral metabolism
In simple words: Wilson's disease is a rare inherited condition where the body cannot get rid of extra copper. The copper builds up and can damage the liver, brain, and other organs. It can cause problems like tremors, difficulty speaking, and liver disease.
Wilson's disease, also known as hepatolenticular degeneration, is an autosomal recessive disorder characterized by abnormal copper metabolism. Due to a defect in the ATP7B gene, copper isn't properly excreted from the liver and accumulates to toxic levels. This excess copper then spills over into other organs, particularly the brain and eyes, causing a range of neurological, psychiatric, and hepatic symptoms. Kayser-Fleischer rings (KF rings), golden-brown discolorations around the cornea, are a hallmark of Wilson's disease caused by copper deposits.
Example 1: A 25-year-old patient presents with tremors, difficulty speaking, and Kayser-Fleischer rings visible upon eye examination. Subsequent lab tests reveal low ceruloplasmin and elevated copper levels, confirming Wilson's disease., A teenager experiences unexplained liver inflammation. Further investigation reveals elevated liver enzymes and copper levels, leading to a diagnosis of Wilson's disease. The patient begins chelation therapy to manage copper accumulation., A child with a family history of Wilson's disease undergoes genetic screening, which confirms the diagnosis before the onset of symptoms. Prophylactic treatment with zinc is initiated to prevent copper buildup and potential long-term complications.
Documentation for E83.01 should include evidence from physical examination (e.g., presence of KF rings, neurological symptoms), laboratory findings (ceruloplasmin, copper levels, liver function tests), genetic testing results if performed, and clinical diagnosis of Wilson's disease.
- Specialties:Hepatology, Neurology, Genetics, Pediatrics
- Place of Service:Inpatient Hospital, Outpatient Hospital, Office