Israel Medical Association Journal

Background: Wilson disease (WD) is an autosomal recessive disease characterized by a defect in hepatocellular copper transport with a wide spectrum of clinical manifestations and reported prevalence.

Objectives: To study the epidemiology and clinical manifestations of WD between two ethnic groups, Jewish and Bedouins, with different marriage patterns, in southern Israel.

Methods: We conducted a retrospective study investigating the clinical course and laboratory characteristics of children diagnosed with WD who were treated at Soroka University Medical Center.

Results: Sixteen patients were diagnosed between 2000 and 2021 (8 males, 50%), 14 were of Bedouins origin. The total cohort prevalence was 1:19,258 while the prevalence of the disease was significantly higher among Bedouins compared to Jews (1:10,828 vs.1:78,270, P-value = 0.004). The median age at diagnosis was 10.2 years, without a significant difference between the groups. The most common presenting symptom was hepatic manifestations: 81.2% had elevated transaminases, 12.5% had jaundice, 25% had neurological symptoms, one had a Kayser-Fleischer ring, and one had psychosis. The mean ceruloplasmin level was 3.0 mg/dl. During follow-up, nine patients normalized transaminases with treatment, while three required liver transplantation. There was no significant difference in the clinical presentation and disease course between the two ethnic groups.

Conclusions: Our cohort showed a high prevalence of WD compared to previous studies, especially among the Bedouin population, which has a high consanguinity rate. The prognosis of WD in our population is similar to other studies and depends mainly on treatment compliance.

The European Union defines rare diseases (RDs) as life-threatening or chronically debilitating conditions whose prevalence is less than 5 per 10,000. Moreover, for many RDs, including those of genetic origin, combined efforts are required to reduce morbidity or perinatal or early mortality, and address the considerable decline in an individual's quality of life and socioeconomic potential. Their specificities, i.e., a limited number of patients and scarcity of relevant knowledge and expertise, make RDs a unique condition which requires wide cooperation at a supranational level. Many steps were therefore taken to develop a network of European Reference Centers and to improve RDs coding and classification. In Italy, the RDs issue was addressed in 2001 with the development of a national network and a national registry coordinated by the National Center for RDs of the Italian National Institute of Health. Registries are an important resource for the development of appropriate public health policies and research on specific RDs. Research on RDs is essential for the development of novel therapeutic approaches and requires the involvement of scientific societies and patient organizations. Nevertheless, the management of patients with chronic RDs requires a qualified care network. The network for RDs of Piedmont and Aosta Valley (North-West Italy) represents an example of health care organization based on the availability of advanced therapies close to the patient’s home.