Wilson disease in Israel and vicinity

Achiya Zvi Amir, Moshe Frydman, Eyal Shteyer

Research output: Chapter in Book/Report/Conference proceedingChapterpeer-review


This chapter reviews the epidemiology, clinical course, genetics, and practical aspects of Wilson disease (WD) in Israel and the surroundings including Egypt, Iran, Lebanon, and Saudi Arabia. WD incidence in Israel is 1:3000-1:40, 000, highest among the Druze. Dominance of liver disease was found among the Druze and Arabs, and neuropsychiatric phenotype dominance among Ashkenazi Jews; Sephardic Jews occasionally presented with hematologic, renal, or endocrine disorders. Genetic analysis demonstrated a few common mutations including M645R and c.3648del6bp suspected to represent founder effects among Ashkenazy Jews and Druze, respectively. WD incidence in the surrounding countries is largely unknown. An early and aggressive liver disease phenotype is a common finding in the Arab population. Despite high levels of consanguinity, a myriad of mutations were reported with no clear phenotype-genotype associations reported. Management of WD is similar to other parts of the world. Liver transplantation is a valid option becoming more available.

Original languageEnglish
Title of host publicationClinical and Translational Perspectives on WILSON DISEASE
Number of pages7
ISBN (Electronic)9780128105320
ISBN (Print)9780128105337
StatePublished - 1 Jan 2018


  • Consanguinity
  • Egypt
  • Iran
  • Israel
  • Lebanon
  • Middle east
  • Saudi arabia
  • Wilson disease


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