Objective: To identify the most frequent signs and symptoms in Wilson’s disease comparing between pediatric and adult patients.

Background: Wilson’s disease or Progressive Lenticular Degeneration is a hereditary disorder characterized by the mutation of the ATP7B gene, which associates to a copper overload mainly in the liver and brain caused by a reduced excretion of copper [1]. The most common period of diagnosis is between 10 and 20 years of age [2]. Regarding clinical presentation, manifestations can be diverse depending on the system where the excess of copper affects the most. Commonly, this disease correlates with neurological symptoms, acute or chronic liver failure, fatigue, abdominal pain among others [3].

Method: Systematic review study with meta-analysis of clinical case reports of Wilson’s disease, the search was developed by searching in PubMed the following terms: “Wilson’s disease “AND “case report” OR “clinical case” including articles with the patient’s clinical record. Data was transcribed into spreadsheets, which each column represented the studied variables including signs, symptoms and complications as well as the age of each patient and categorizing as <15 or >15 for comparison purposes. Statistical tests for comparison between age groups included Chi square and fisher’s exact test, establishing a bilateral hypothesis with p<0.05 and 95% confidence using STATA 14 statistical program.

Results: A total of 111 articles were found. Following the application of exclusion criteria 63 articles were selected which included 64 cases. The average age was 27.43 years old, and male patients represented 52% of all cases. Among the most frequent clinical manifestations, dysarthria (63%), tremor (51%) and splenomegaly (41%) were found meanwhile gait deterioration and dystonia represented 38% and 36% respectively. Regarding the group comparison tests, no significant difference in frequency of presentation of signs and symptoms between age groups.

Conclusion: Due to a wide variety of clinical presentation in these patients, it’s a challenge to establish an early diagnosis, since the initial signs and symptoms previously described in the literature are not always the same, or they might not be manifested in all patients, as is the case with hepatomegaly and jaundice. Age of diagnosis doesn’t seem to correlate with symptomatology frequency distribution.

References: 1- Coffey AJ, Durkie M, Hague S, McLay K, Emmerson J, Lo C, Klaffke S, Joyce CJ, Dhawan A, Hadzic N, Mieli-Vergani G, Kirk R, Elizabeth Allen K, Nicholl D, Wong S, Griffiths W, Smithson S, Giffin N, Taha A, Connolly S, Gillett GT, Tanner S, Bonham J, Sharrack B, Palotie A, Rattray M, Dalton A, Bandmann O. A genetic study of Wilson’s disease in the United Kingdom. Brain. 2013 May;136(Pt 5):1476-87. doi: 10.1093/brain/awt035. Epub 2013 Mar 21. PMID: 23518715; PMCID: PMC3634195. 2- Schilsky ML. Wilson Disease: Diagnosis, Treatment, and Follow-up. Clin Liver Dis. 2017 Nov;21(4):755-767. doi: 10.1016/j.cld.2017.06.011. Epub 2017 Aug 10. PMID: 28987261. 3- Capone K, Azzam RK. Wilson’s Disease: A Review for the General Pediatrician. Pediatr Ann. 2018 Nov 1;47(11):e440-e444. doi: 10.3928/19382359-20181026-01. PMID: 30423186.

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MDS Abstracts - https://www.mdsabstracts.org/abstract/clinical-presentation-of-wilsons-disease-in-pediatric-and-adult-patients-a-systematic-review/