Work

#177 - Clinical and Genetic Profile of Wilson Disease in a Referral Center: a Retrospective Cohort Study

Year: 2026

Type: article

Abstract: Introduction and Objectives Wilson disease is an autosomal recessive disorder caused by ATP7B variants, resulting in impaired copper metabolism with mainly hepatic and neurological copper accumulation. Its heterogeneous presentation may delay diagnosis and favor multiorgan involvement. Data on clinical behavior, genetic profile, and outcomes in Latin America remain limited. To describe the clinical, genetic, therapeutic characteristics and outcomes of patients with Wilson disease at a referral center. Materials and Methods Observational, retrospective, descriptive study of patients with Wilson disease. Demographic data, age at diagnosis, clinical manifestations, multiorgan involvement, ATP7B variants, treatment, liver transplantation, and mortality were collected. Continuous variables were expressed as mean ± SD or median and IQR; categorical variables as absolute and relative frequencies. Results Forty-eight patients were included; diagnosis was most frequent at 20–29 years (17; 35.4%). Manifestations were not mutually exclusive: hepatic 44/48 (91.7%), neurological 22/48 (45.8%), psychiatric 17/48 (35.4%), and hematological 6/48 (12.5%); 35 (72.9%) had multiorgan involvement. Genetic characterization was performed in 25 patients: missense variants predominated (22/25; 88.0%), while 3/25 (12.0%) had splicing or non-translated variants. The main variant was p.(Thr1232Pro) (18/25; 72.0%). The most frequent treatment was chelation plus zinc (23/48; 47.9%). During follow-up, 25 (52.1%) improved; 8 (16.7%) required transplantation due to liver failure or cirrhosis (4/8; 50.0% each), and mortality was 20.8% (10/48). Conclusions This real-world Latin American cohort showed high hepatic and multiorgan involvement and marked predominance of p.(Thr1232Pro), suggesting a distinctive molecular pattern. Transplantation need and mortality underscore significant clinical burden.

Source: Annals of Hepatology

DOI: 10.1016/j.aohep.2026.102406

Authors: Jhon García, Mayra Jurado, Octavio Muñoz

Institutions: Universidad Pontificia Bolivariana, Universidad de Antioquia, Hospital Pablo Tobon Uribe

Language: English

Topic: Trace Elements in Health

Subfield: Nutrition and Dietetics

Field: Nursing

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: gold

Estimated APC paid: $1,500