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Clinical and Molecular Spectrum of Wilson Disease in the Arab World: A Systematic Review

Clinical and Molecular Spectrum of Wilson Disease in the Arab World: A Systematic Review Wilson disease is a rare monogenic disease characterized by copper overload in various organs, mainly the liver, the brain and the eyes. It has a prevalence ranging between 1/30,000 and 1/50,000, and it is caused by pathogenic variants in the ATP7B gene, which encodes a copper-transporting ATPase essential for regulating liver copper levels by directing copper to the secretory pathway and exporting excess copper into bile. It is a fatal disease if left untreated; however early diagnosis and effective treatment enable patient’s outcome improvement. Unfortunately, in the Arab world there is no collective data on Wilson disease. This systematic review presents an explicit overview on the clinical and molecular spectrum of Wilson disease in the Arab world. A literature search was conducted on five databases from their inception until April 2024, using a combination of words related to the genetics of Wilson disease in the Arab world. The search resulted in 48 relevant studies carried out in 13 Arab countries, in which 802 Wilson disease patients were reported, with a high rate of consanguinity, and a slight male predominance. Hepatic presentations were the most frequent features in patients, and a total of 92 variants were identified with a detection rate of 61.2%. Genotype–phenotype correlations were not established for the majority of variants. This review revealed a clinical and molecular heterogeneity of Wilson disease in the Arab world. Efforts from health authorities, clinicians and geneticists are recommended to improve diagnosis, reduce disease incidence and give more insights into the present-day understanding of Wilson disease in the Arab world. http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Biochemical Genetics Springer Journals

Clinical and Molecular Spectrum of Wilson Disease in the Arab World: A Systematic Review

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Publisher
Springer Journals
Copyright
Copyright © The Author(s), under exclusive licence to Springer Science+Business Media, LLC, part of Springer Nature 2025
ISSN
0006-2928
eISSN
1573-4927
DOI
10.1007/s10528-025-11042-1
Publisher site
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Abstract

Wilson disease is a rare monogenic disease characterized by copper overload in various organs, mainly the liver, the brain and the eyes. It has a prevalence ranging between 1/30,000 and 1/50,000, and it is caused by pathogenic variants in the ATP7B gene, which encodes a copper-transporting ATPase essential for regulating liver copper levels by directing copper to the secretory pathway and exporting excess copper into bile. It is a fatal disease if left untreated; however early diagnosis and effective treatment enable patient’s outcome improvement. Unfortunately, in the Arab world there is no collective data on Wilson disease. This systematic review presents an explicit overview on the clinical and molecular spectrum of Wilson disease in the Arab world. A literature search was conducted on five databases from their inception until April 2024, using a combination of words related to the genetics of Wilson disease in the Arab world. The search resulted in 48 relevant studies carried out in 13 Arab countries, in which 802 Wilson disease patients were reported, with a high rate of consanguinity, and a slight male predominance. Hepatic presentations were the most frequent features in patients, and a total of 92 variants were identified with a detection rate of 61.2%. Genotype–phenotype correlations were not established for the majority of variants. This review revealed a clinical and molecular heterogeneity of Wilson disease in the Arab world. Efforts from health authorities, clinicians and geneticists are recommended to improve diagnosis, reduce disease incidence and give more insights into the present-day understanding of Wilson disease in the Arab world.

Journal

Biochemical Genetics – Springer Journals

Published: Apr 1, 2025

Keywords: Wilson disease; Arab world; ATP7B gene; Clinical spectrum; Molecular spectrum

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