Wilson's disease ; clinical presentations among patients attending gastroenterology clinic-Baghdad Teaching Hospital

Abstract EN

Background:Wilson’s disease (WD) is an inherited disorder of copper metabolism that is characterized by tremendous variation in the clinical presentation.

Objective: To assess demographic distribution, clinical presentations, diagnostic evaluation, and any association between clinical presentations and other studied variables of a sample of Iraqi patients with WD.

Methods: A descriptive cross sectional study with analytic elements was conducted during 2011, from the 1st of February till the 10th of June.

The sampling method was a convenient non-random one, carried out through consecutive pooling of registered WD patients.

A questionnaire-form paper had been developed for the process of data collection.

Results: The study had enrolled 29 patients, with a male to female ratio of (1.07:1), their mean age was 27.12±12.18 years.

82.8% of them lived in urban area.

48.3% were singles.

Only 20.7% of patients had a positive family history of WD.

69% of patients had consanguineous parents.

The main initial clinical presentations were; hepato-neurologic (31%), pure hepatic (27.6%), neuro-psychiatric (13.8%) and other presentations (27.6%).

Hepatic manifestations were seen in (82.8%) of patients; jaundice was the most frequent (89.7%).

Ophthalmologic manifestations in (55.1%) of patients including; Kayser-Fleischer rings (51.7%), diplopia (6.9%) and cataracts (3.4%).

Neurologic manifestations existed in 44.8% of patients; tremors were the most frequent (41.4%).

Psychiatric manifestations existed in 31% of patients; depression was the commonest (27.6%).

Joints manifestations existed in 20.7% of patients.

The diagnosis delay was 11.26±8.2 months.

Conclusion: The higher percentage of patients were of hepato-neurologic and pure hepatic presentations.

Patients with hepato-neurologic type are diagnosed in older age, while those with neuro-psychiatric type are diagnosed in younger age and with longer diagnosis delay.