Wilson disease

Description of 282 patients evaluated over 3 decades

Arun B. Taly, S. Meenakshi-Sundaram, Sanjib Sinha, H. S. Swamy, G. R. Arunodaya

Research output: Contribution to journalArticle

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Abstract

The clinical manifestations of Wilson disease (WD) are varied and challenging. We conducted the current study to present the phenotypic characteristics and follow-up for a large cohort of patients with WD. We reviewed the medical records of 282 cases of WD (male:female ratio, 196:86) for clinical features, investigations, treatment, and outcome data. The clinical presentations were as follows: hepatic, 42 (14.9%); hepato-neurologic, 10 (3.5%); neurologic, 195 (69.1%); pure psychiatric, 7 (2.4%); osseomuscular, 6 (2.1%); and "presymptomatic," 15 (5.3%). Mean age was 15.9 years. Presymptomatic patients and those with the hepatic form of WD were younger and patients with osseomuscular and psychiatric forms were older than neurologic patients. The mean duration of illness at the time of diagnosis was 28 months. Predominant neurologic features were as follows: parkinsonism, 62.3%; dystonia, 35.4%; cerebellar, 28%; pyramidal signs, 16%; chorea, 9%; athetosis, 2.2%; myoclonus, 3.4%; and behavioral abnormalities, 16%. Kayser-Fleischer (KF) rings were seen as follows: neurologic patients, 100%; hepatic patients, 86%; and presymptomatic patients, 59%. Positive family history was noted in 47% and consanguinity in 54%. Patients born of consanguineous parents had an earlier age of onset and shorter duration of illness before presentation. Serum ceruloplasmin was decreased in 93% and 24-hour urinary copper excretion was increased in 70% of patients. Neuroimaging (computed tomography/magnetic resonance imaging) and electrophysiologic abnormalities were seen in many patients. Overall, 195 patients were on D-penicillamine therapy and 182 on zinc sulphate. Follow-up data, available for 225 patients, for a mean duration of 46 months, revealed improvement in 176, no change in 20, and deterioration in 6. Twenty-three patients died. To conclude, despite increased awareness and recognition and significant inroads into therapeutic frontiers, follow-up remains poor in developing countries and a return to previous level of functioning is not universal.

Original languageEnglish
Pages (from-to)112-121
Number of pages10
JournalMedicine
Volume86
Issue number2
DOIs
Publication statusPublished - Mar 2007

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Hepatolenticular Degeneration
Nervous System
Psychiatry
Athetosis
Zinc Sulfate
Consanguinity
Chorea
Myoclonus
Ceruloplasmin
Penicillamine
Dystonia
Liver
Parkinsonian Disorders
Age of Onset
Neuroimaging
Developing Countries
Medical Records
Copper

ASJC Scopus subject areas

  • Medicine(all)

Cite this

Wilson disease : Description of 282 patients evaluated over 3 decades. / Taly, Arun B.; Meenakshi-Sundaram, S.; Sinha, Sanjib; Swamy, H. S.; Arunodaya, G. R.

In: Medicine, Vol. 86, No. 2, 03.2007, p. 112-121.

Research output: Contribution to journalArticle

Taly, AB, Meenakshi-Sundaram, S, Sinha, S, Swamy, HS & Arunodaya, GR 2007, 'Wilson disease: Description of 282 patients evaluated over 3 decades', Medicine, vol. 86, no. 2, pp. 112-121. https://doi.org/10.1097/MD.0b013e318045a00e
Taly, Arun B. ; Meenakshi-Sundaram, S. ; Sinha, Sanjib ; Swamy, H. S. ; Arunodaya, G. R. / Wilson disease : Description of 282 patients evaluated over 3 decades. In: Medicine. 2007 ; Vol. 86, No. 2. pp. 112-121.
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