Epidemiology, Evaluation and Management of Wilson Disease: Review Article
Mohammed Salah Hussein
Department of Gastroenterology and Endoscopy, Dr Samir Abbas Hospital, Jeddah, Saudi Arabia and Department of Internal Medicine, Faculty of Medicine, Al- Azhar University, Cairo, Egypt.
Turki Mohammed A. Alshehri
King Faisal medical complex Taif, Saudi Arabia, Batterjee Medical College, Saudi Arabia.
Nada Muidh Aloufi
King Abdulaziz University, Saudi Arabia.
Alghamdi, Ibrahim Saeed A.
King Abdulaziz University, Saudi Arabia.
Al zahrani, Adel Abdulrahman S.
King Abdulaziz University, Saudi Arabia.
Fahad Ayed Alharbi
KAMCJ, Saudi Arabia.
Ahmed Abdulaziz A. Alqerafi
King Saud for Health Sciences,Jeddah, Saudi Arabia.
Alsarraj, Nawaf Faiq M
Eradah (Al Amal) Mental Health Complex, Jeddah, Saudi Arabia.
Manal Abdulrahman Alem
King Abdulaziz University, Saudi Arabia.
Alotaibi. Saad Jamal
King Saud University, Riyadh, Saudi Arabia.
*Author to whom correspondence should be addressed.
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.
Keywords: Wilson disease, EPS, D-penicillamine, Wilson illness