Wilson disease treatment uptodate. Treatment for Wilson disease is a lifelong process. May 4, 2022 · This topic will review the clinical manifestations, diagnosis, and natural history of Wilson disease. The epidemiology, pathogenesis, and treatment of Wilson disease, as well as a detailed discussion of the individual tests used to diagnose Wilson disease, are discussed separately. The primary treatments are chelating agents like D-penicillamine and trientine, which remove excess copper from the body. The clinical manifestations, diagnosis, and treatment of Wilson disease are discussed separately. Treatment of Wilson disease Wilson disease is a very treatable condition. Jun 5, 2025 · Wilson disease (also referred to as hepatolenticular degeneration) is a genetic disorder of copper metabolism with an autosomal recessive pattern of inheritance that leads to impaired function of the intracellular copper transporter ATP7B. This page discusses its clinical aspects. The epidemiology, pathogenesis, clinical manifestations, and diagnosis of Wilson disease are discussed separately. Inactivation of the copper (Cu) transporter ATP7B and Cu overload in tissues, especially in the liver, are established causes of WD. ) This topic will discuss management of Wilson disease. May 2, 2022 · Wilson disease (WD) is a potentially fatal genetic disorder with a broad spectrum of phenotypic presentations. Patients must speak with a health care provider for complete information about their health, medical questions, and treatment options, including any risks or benefits regarding use of medications. The epidemiology, pathogenesis, and treatment of Wilson disease, as well as a detailed discussion of the individual tests used to diagnose Wilson disease, are discussed separately … UpToDate UpToDate Jan 2, 2025 · Comprehensive guide on managing Wilson disease, a genetic disorder affecting copper metabolism, with insights into treatment strategies and patient care. Among neurodegenerative diseases, it is unusual in that misdiagnosis and delay in treatment are clinically relevant because treatments can prevent and cure Wilson's disease, if they are given appropriately. In addition, some patients develop neuropsychiatric symptoms. Treatment is aimed at removing excess accumulated copper and preventing its reaccumulation. The document discusses treatment options for Wilson disease, which is caused by a defect in copper transport. Over time, the damage from the accumulation of copper results in the hepatic, neurologic, and psychiatric manifestations of Wilson disease. May 15, 2023 · Abstract Wilson disease (WD) is caused by autosomal variants affecting the ATP7B gene on chromosome 13, resulting in alterations in physiological copper homeostasis and copper accumulation. Clinical manifestations of neurologic Wilson's disease include variable combinations of dysarthria, dystonia, tremor, and choreoathetosis. Wilson disease: Treatment and prognosis Author 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 Jun 5, 2025 · Wilson disease is a rare genetic disorder causing copper accumulation in the body, leading to liver and neurological symptoms. . With proper therapy, disease progress can be halted and often times symptoms can be improved. Jan 2, 2025 · (See "Wilson disease: Clinical manifestations, diagnosis, and natural history", section on 'Clinical features'. UpToDate UpToDate We report a case of secondary acquired sideroblastic anaemia following administration of triethylene tetramine dihydrochloride (trientine), a second-line copper-chelating agent used in the treatment of Wilson's disease. This topic will review the epidemiology and pathogenesis of Wilson disease. The anaemia improved after dose reduction of trientine. (See "Wilson disease: Clinical manifestations, diagnosis, and natural history", section on 'Clinical features'. Zinc supplements can also be used to prevent copper absorption. Other aspects of Wilson disease, including screening asymptomatic relatives, are discussed separately: Jun 19, 2024 · Over time, the damage from the accumulation of copper results in the hepatic, neurologic, and psychiatric manifestations of Wilson disease. Lifelong treatment is needed to manage copper levels and prevent symptoms. Often considered a pediatric or young adult disease, WD Access evidence-based clinical information and resources for various medical specialties on UpToDate. Excess copper clinically manifests in many organs, most often in the central nervous system and liver, ultimately causing cirrhosis and death. Feb 16, 2023 · This topic will review the treatment of Wilson disease. vtrw krwlmz encfvks vdgepk qan cqq rjcix cnkwk rbvnm nvu