Wilson's disease: Diagnostic difficulties in the patient with chronic hepatitis and hypoceruloplasminemia

Stuart Jon Spechler, Raymond S. Koff

Research output: Contribution to journalArticle

17 Citations (Scopus)

Abstract

Wilson's disease presents as a classical hereditary syndrome of clinical and biochemical abnormalities. Life-long treatment with copper-chelating agents may dramatically alter the subsequent course and outcome. Hence, considerable attention has been drawn to early recognition and treatment. Since the presentation of Wilson's disease may simulate chronic active hepatitis of unknown etiology, it has been emphasized that the diagnosis of the genetic disorder should be suspected and excluded in this clinical setting. In this report we describe the difficulties encountered in the evaluation of a patient with non-Wilsonian chronic active hepatitis and low serum ceruloplasmin levels. This case illustrates that the distinction between the Wilson's disease homozygote and the hypoceruloplasminemic patient with idiopathic chronic active hepatitis may be difficult to establish and requires a critical evaluation of data to avoid diagnostic pitfalls.

Original languageEnglish (US)
Pages (from-to)803-806
Number of pages4
JournalGastroenterology
Volume78
Issue number4
StatePublished - 1980

Fingerprint

Hepatolenticular Degeneration
Chronic Hepatitis
Inborn Genetic Diseases
Ceruloplasmin
Homozygote
Chelating Agents
Copper
Therapeutics
Serum
Familial apoceruloplasmin deficiency

ASJC Scopus subject areas

  • Gastroenterology

Cite this

Wilson's disease : Diagnostic difficulties in the patient with chronic hepatitis and hypoceruloplasminemia. / Spechler, Stuart Jon; Koff, Raymond S.

In: Gastroenterology, Vol. 78, No. 4, 1980, p. 803-806.

Research output: Contribution to journalArticle

@article{df53c7d26b69412e97a71a764e2f2ae8,
title = "Wilson's disease: Diagnostic difficulties in the patient with chronic hepatitis and hypoceruloplasminemia",
abstract = "Wilson's disease presents as a classical hereditary syndrome of clinical and biochemical abnormalities. Life-long treatment with copper-chelating agents may dramatically alter the subsequent course and outcome. Hence, considerable attention has been drawn to early recognition and treatment. Since the presentation of Wilson's disease may simulate chronic active hepatitis of unknown etiology, it has been emphasized that the diagnosis of the genetic disorder should be suspected and excluded in this clinical setting. In this report we describe the difficulties encountered in the evaluation of a patient with non-Wilsonian chronic active hepatitis and low serum ceruloplasmin levels. This case illustrates that the distinction between the Wilson's disease homozygote and the hypoceruloplasminemic patient with idiopathic chronic active hepatitis may be difficult to establish and requires a critical evaluation of data to avoid diagnostic pitfalls.",
author = "Spechler, {Stuart Jon} and Koff, {Raymond S.}",
year = "1980",
language = "English (US)",
volume = "78",
pages = "803--806",
journal = "Gastroenterology",
issn = "0016-5085",
publisher = "W.B. Saunders Ltd",
number = "4",

}

TY - JOUR

T1 - Wilson's disease

T2 - Diagnostic difficulties in the patient with chronic hepatitis and hypoceruloplasminemia

AU - Spechler, Stuart Jon

AU - Koff, Raymond S.

PY - 1980

Y1 - 1980

N2 - Wilson's disease presents as a classical hereditary syndrome of clinical and biochemical abnormalities. Life-long treatment with copper-chelating agents may dramatically alter the subsequent course and outcome. Hence, considerable attention has been drawn to early recognition and treatment. Since the presentation of Wilson's disease may simulate chronic active hepatitis of unknown etiology, it has been emphasized that the diagnosis of the genetic disorder should be suspected and excluded in this clinical setting. In this report we describe the difficulties encountered in the evaluation of a patient with non-Wilsonian chronic active hepatitis and low serum ceruloplasmin levels. This case illustrates that the distinction between the Wilson's disease homozygote and the hypoceruloplasminemic patient with idiopathic chronic active hepatitis may be difficult to establish and requires a critical evaluation of data to avoid diagnostic pitfalls.

AB - Wilson's disease presents as a classical hereditary syndrome of clinical and biochemical abnormalities. Life-long treatment with copper-chelating agents may dramatically alter the subsequent course and outcome. Hence, considerable attention has been drawn to early recognition and treatment. Since the presentation of Wilson's disease may simulate chronic active hepatitis of unknown etiology, it has been emphasized that the diagnosis of the genetic disorder should be suspected and excluded in this clinical setting. In this report we describe the difficulties encountered in the evaluation of a patient with non-Wilsonian chronic active hepatitis and low serum ceruloplasmin levels. This case illustrates that the distinction between the Wilson's disease homozygote and the hypoceruloplasminemic patient with idiopathic chronic active hepatitis may be difficult to establish and requires a critical evaluation of data to avoid diagnostic pitfalls.

UR - http://www.scopus.com/inward/record.url?scp=0018900044&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0018900044&partnerID=8YFLogxK

M3 - Article

C2 - 7353765

AN - SCOPUS:0018900044

VL - 78

SP - 803

EP - 806

JO - Gastroenterology

JF - Gastroenterology

SN - 0016-5085

IS - 4

ER -