Epidemiology, Evaluation and Management of Wilson Disease: Review Article

Abstract

Wilson disease (hepatolenticular degeneration) is a rare autosomal recessive ailment characterized by aberrant copper buildup in the body, with the brain, liver, and cornea being notably affected. Wilson illness is caused by a mutation in the ATP7B gene on chromosome 13, which regulates the protein transporter that excretes excess copper into the bile and out of the body. So far, over 500 mutations have been discovered. The most common treatment for WD is D-penicillamine (D-PCA). Patients with severe spasms, deformities, or dysphonia, as well as those who are allergic to D-PCA, should avoid it. Early Diagnosis is a key factor in saving patient’s live, and thus prober investigation should be done as soon as possible.  Family screening is a must when a patient is diagnosed to role out any other patients in the family with the disease and because of the strong genetic factor impacting the disease. early detection is critical for initiating therapy in the early, asymptomatic stages of the disease, rather than when liver decompensation or extensive neurological irreversible harm has already occurred. In this circumstance, the optimum technique is to finish copper investigations in the index patient's first- and second-degree relatives. In the present article we’ll be discussing disease prevalence, etiology and more importantly diagnosis and management.