Wilson disease in 71 patients followed for over two decades in a tertiary center in Saudi Arabia: a retrospective review

Abstract

BACKGROUND AND OBJECTIVESWilson disease (WD) is a rare autosomal recessive disease. Our objective was to describe the diverse patterns, therapies, and outcomes of this disease.DESIGN AND SETTINGA retrospective study over two decades on WD patients in a tertiary care center in Saudi Arabia.PATIENTS AND METHODSClinical and laboratory findings of 71 patients with WD were retrieved from their charts, referral notes and our hospital electronic records and were analyzed.RESULTSThe mean age and standard deviation was 16.8 (10.7) years and 56.5% were males. The main manifestations of WD were hepatic, neurological, and mixed in 39 (54.9%), 12 (16.9%), and 20 (28.2%) patients, respectively, and 11 (15.5%) were asymptomatic cases detected by family screening. A family history of WD was positive in 41 (57.7%) patients, and consanguinity of parents was found in 26 (36.6%) patients. The mean (SD) follow-up period was 92.2 (72.9) (range, 1–320) months. Ten (14.1%) patients died during follow up, while 45 (63.4%) and 16 (22.5%) were still on or lost from follow-up, respectively. The mean (SD) age at the end of follow-up was 25.3 (12) (range, 4–62) years. Hepatoma was discovered in 5 (7.0%) patients. Penicillamine therapy was used by 58 (81.7%) patients, while zinc and trientine were given to 32 (45.1%) and 11 (15.5%) patients, respectively. Sixteen (22.5%) patients underwent liver transplantation and one died (1.4%) on the waiting list. The liver condition remained stable or improved in 35 (49.3%), and the neurological status showed improvement in 11 (34.4%) of the 32 patients who had neurological involvement.CONCLUSIONSThis is the biggest cohort to be reported from the Middle East. WD presentation and outcome of WD are very diverse, and its diagnosis still depends on clinical, laboratory, and radiological evidence of abnormal copper metabolism. WD should be considered in patients of any age with obscure hepatic and/or neurological abnormalities.

Update on the clinical management of Wilson's disease

“…Reported consanguinity in WD in regions with frequent inbreeding varies from 30% to 90% 62,70–72. Even though the detected mutations in these populations represent only a fraction of all known mutations, several conclusions can be drawn.…”

A multidisciplinary approach to the diagnosis and management of Wilson disease: Executive summary of the 2022 Practice Guidance on Wilson disease from the American Association for the Study of Liver Diseases

“…[391] By contrast, HCC was reported in 7% of patients with WD in a Saudi Arabian cohort. [392] HCC in WD therefore may be more frequent than formerly appreciated but still less frequent than in other chronic liver diseases. [393][394][395][396][397] There also is a substantial rate of intrahepatic CCA complicating WD.…”

Wilson disease and the differential diagnosis of its hepatic manifestations: a narrative review of clinical, laboratory, and liver histological features

“…Although HCC is uncommon in cirrhosis related to WD, 7% of cases in a Saudi Arabian cohort also presented a diagnosis of HCC (97). A study gathering data from three Dutch hospitals and 130 patients with WD, 57% of which had cirrhosis, followed for a median follow up of 15 years, indicated that there is no increased risk of HCC in cirrhosis with an estimated annual HCC risk for all patients of 0.09% (98).…”