0

The full content of Annals is available to subscribers

Subscribe/Learn More  >
Reviews |

Wilson Disease: Clinical Presentation, Treatment, and Survival

Wolfgang Stremmel, MD; Karl-Wilhelm Meyerrose, MD; Claus Niederau, MD; Harald Hefter, MD, PhD; Georg Kreuzpaintner, MD; and Georg Strohmeyer, MD
[+] Article and Author Information

Grant Support: By grant STR 92/4-1 from the Deutsche Forschungsgemeinschaft, Bonn, Federal Republic of Germany.

Requests for Reprints: Wolfgang Stremmel, MD, Department of Medicine, University of Düsseldorf, Moorenstrasse 5, 4000 Düsseldorf, Federal Republic of Germany.

Current Author Addresses: Drs. Stremmel, Meyerrose, Niederau, Kreuzpaintner, and Strohmeyer: Department of Medicine, University Hospital, Heinrich-Heine University, Moorenstrasse 5, 4000 Düsseldorf, Federal Republic of Germany.

Dr. Hefter: Department of Neurology, University Hospital, Heinrich-Heine University, Moorenstrasse 5, 4000 Düsseldorf, Federal Republic of Germany.


©1991 American College of PhysiciansAmerican College of Physicians


Ann Intern Med. 1991;115(9):720-726. doi:10.7326/0003-4819-115-9-720
Text Size: A A A

Objective: To evaluate the diagnostic features, clinical course, and overall long-term survival of patients with Wilson disease.

Design: Retrospective cohort study with a mean follow-up period of 14.2 years.

Setting: A university medical center and a community hospital.

Patients: Fifty-one consecutive patients with Wilson disease were evaluated between 1957 and 1989.

Interventions: Patients were treated with D-penicillamine (600 to 1800 mg/d). Two patients with end-stage liver disease had liver transplantation.

Main Results: Initial symptoms occurred at a mean age of 15.5 years. At diagnosis, the most common neurologic signs were dysarthria, tremor, writing difficulties, and ataxia followed by hypersalivation and headache. Somatic symptoms included abdominal pain, hepatomegaly, splenomegaly, cirrhosis of the liver, and thrombocytopenia. The mean serum concencentration of ceruloplasmin and copper were 44 mg/L and 4.7 µmol/L, respectively. The mean basal urinary copper excretion was and the mean hepatic copper concentration was 19.6 µ dry weight. Free serum copper concentration (mean, 2.7 µmol/L) was a reliable indicator of disease and was useful in assessing the effectiveness of therapy (values < 1.6 µmol/L). Treatment with D-penicillamine improved most of the hematologic and neurologic abnormalities but had little effect on hepatomegaly and splenomegaly and did not reverse cirrhosis. Two patients died of fulminant hepatic failure during the observation period, whereas two others with end-stage liver disease had successful liver transplantation and remain asymptomatic. Long-term survival of patients with Wilson disease was similar to that of age- and sex-matched controls.

Conclusion: Our results suggest that long-term treatment of patients with Wilson disease with D-penicillamine can relieve symptoms and improve prognosis.

Figures

Tables

References

Letters

NOTE:
Citing articles are presented as examples only. In non-demo SCM6 implementation, integration with CrossRef’s "Cited By" API will populate this tab (http://www.crossref.org/citedby.html).

Comments

Submit a Comment
Submit a Comment

Summary for Patients

Clinical Slide Sets

Terms of Use

The In the Clinic® slide sets are owned and copyrighted by the American College of Physicians (ACP). All text, graphics, trademarks, and other intellectual property incorporated into the slide sets remain the sole and exclusive property of the ACP. The slide sets may be used only by the person who downloads or purchases them and only for the purpose of presenting them during not-for-profit educational activities. Users may incorporate the entire slide set or selected individual slides into their own teaching presentations but may not alter the content of the slides in any way or remove the ACP copyright notice. Users may make print copies for use as hand-outs for the audience the user is personally addressing but may not otherwise reproduce or distribute the slides by any means or media, including but not limited to sending them as e-mail attachments, posting them on Internet or Intranet sites, publishing them in meeting proceedings, or making them available for sale or distribution in any unauthorized form, without the express written permission of the ACP. Unauthorized use of the In the Clinic slide sets will constitute copyright infringement.

Toolkit

Buy Now

to gain full access to the content and tools.

Want to Subscribe?

Learn more about subscription options

Advertisement
Related Articles
Topic Collections
PubMed Articles

Buy Now

to gain full access to the content and tools.

Want to Subscribe?

Learn more about subscription options

Forgot your password?
Enter your username and email address. We'll send you a reminder to the email address on record.
(Required)
(Required)