National alliance for Wilson’s disease: health policy in Costa Rica

Abstract

Wilson's disease is an inherited disorder in which defective biliary excretion of copper leads to its accumulation, particularly in the liver and brain. Mutations in the ATP7B gene on chromosome 13 cause Wilson's disease. If left untreated it will cause liver failure, neurological damage, and will be life threatening. It is considered a rare disease afflicting approximately 1 in 30,000 persons worldwide, although this rate is similar in the different countries some places show higher incidence rates. Since Costa Rica reports the highest number of cases per population, essential public health initiatives that promote wellbeing, prevent disease complications, and prolong life among the affected population have been carried out during the last decades. The most recent lead in this matter is the conformation of the Costa Rica's National Alliance for Wilson's disease whose main objective is to provide practical, operational, timely and relevant guidance to patients, families, and healthcare professionals in the region for early diagnosis and treatment. The development and implementation of the National Alliance for Wilson's disease activities is crucial because it will reaffirm that early intervention and appropriate treatment, will reduce if not eliminate the burden of Wilson's disease.

Wilson disease in Costa Rica: Pediatric phenotype and genotype characterization

“…Second, the number of pediatric cases identified over time was similar between Jimenez et al (2009) and our cohort. Interestingly, a higher prevalence of cases in the central province of San José is consistent with prior reports and cases described here are moderately genetically homogenous . Explanations for the higher incidence of WD in our population combined with a higher central region prevalence and a more genetically homogenous population, include consanguinity and a possible founder effect .…”

“…The central province of San José was the most affected with a prevalence of 3.9:100 000, followed by the province of Puntarenas with 3.6:100 000. The difference in prevalence with previous adult population studies may be attributable to the natural history of the condition and its onset later in adulthood …”

“…The difference in prevalence with previous adult population studies may be attributable to the natural history of the condition and its onset later in adulthood. 6 Biallelic pathogenic variants were identified in 27 of the 34 individuals who met Leipzig criteria for WD. The most frequent pathogenic variant detected in our population in ATP7B (hg19) was NM_000053:c.3809A>G, p. Asn1270Ser ( Table 2).…”

“…Comparison of homozygous p.Asn1270Ser phenotypes (n = 20) to heterozygous phenotypes (n = 14) in pediatric patients with Wilson disease (Chi-squared, P < .05) reports and cases described here are moderately genetically homogenous. 6,24 Explanations for the higher incidence of WD in our population combined with a higher central region prevalence and a more genetically homogenous population, include consanguinity and a possible founder effect. 11 Interestingly, the first reports of the p. Asn1270SSer variant were documented in the Mediterranean region (Sicily and Turkey) and later in Costa Rica.…”

“…4,5 Costa Rica has the highest prevalence of WD in the world: 4.9:100 000, as per previous reports, as well as a burden of other autosomal recessive conditions. 6,7 Previous studies have reported a high rate of acute liver failure among WD patients in Costa Rica, approximately 17% in children, in comparison to other reports where only 5% was observed. [8][9][10][11] To address this, the Medical Genetics and Metabolism Department at the National Children's Hospital (HNN) now provides molecular diagnoses for a group of conditions including Wilson disease (OMIM #277900).…”