Related Experiment Video
Updated: Jul 12, 2026
08:54
Functional Human Liver Preservation and Recovery by Means of Subnormothermic Machine Perfusion
Published on: April 27, 2015
[44-year-old patient with fulminant liver failure]
A Kerber1, C Sarrazin, C Allers
1Medizinische Klinik II, Zentrum der Inneren Medizin, Klinikum der Johann-Wolfgang-Goethe-Universität, Frankfurt. aschm6674@aol.com
Der Internist
|December 23, 2003
Summary
This case study presents the oldest patient diagnosed with acute Wilson's disease, a rare genetic disorder affecting copper metabolism. Despite atypical initial symptoms, advanced diagnostics confirmed the diagnosis, highlighting the importance of considering Wilson's disease in acute liver failure.
Area of Science:
- Hepatology
- Medical Genetics
- Internal Medicine
Background:
- Wilson's disease is a rare autosomal recessive genetic disorder of copper metabolism.
- Acute hepatic failure is a rare but severe presentation of Wilson's disease.
Observation:
- A 44-year-old female presented with acute hepatic failure and hemolysis, initially suspected to be Wilson's disease.
- Classic diagnostic markers like Kayser-Fleischer rings, low serum copper, and ceruloplasmin were absent.
- Preliminary diagnosis was based on specific laboratory findings: AP/bilirubin ratio <2, AST/ALT ratio >4, hemolysis, and elevated urinary copper excretion (cupruresis).
Findings:
- The definitive diagnosis of Wilson's disease was confirmed post-orthotopic liver transplantation via quantitative copper analysis of the explanted liver.
- This case represents the oldest reported patient with an acute Wilson's disease presentation.
Implications:
- This case expands the known age range for acute Wilson's disease presentation.
- It underscores the importance of considering Wilson's disease in adult patients with acute liver failure and hemolysis, even with atypical initial findings.
- Diagnostic criteria for Wilson's disease may need to be broadened to include such presentations.
Related Concept Videos
01:26Diseases of the Liver and Gallbladder
Liver and gallbladder diseases are a significant health concern, with prominent conditions including cirrhosis, hepatitis, non-alcoholic fatty liver disease (NAFLD), and gallstones. Jaundice is a common manifestation of liver and biliary disease.
Cirrhosis is characterized by the scarring of hepatic lobules in the liver, which are replaced by fibrous tissue, affecting the liver's normal functioning. NAFLD, on the other hand, is caused by an excessive build-up of fat in the liver, not related to...
Cirrhosis is characterized by the scarring of hepatic lobules in the liver, which are replaced by fibrous tissue, affecting the liver's normal functioning. NAFLD, on the other hand, is caused by an excessive build-up of fat in the liver, not related to...
01:28Esophageal Varices-II: Clinical Features and Management
Esophageal varices often manifest as gastrointestinal bleeding episodes, presenting symptoms like hematemesis (vomiting of blood), hematochezia (passing fresh blood via the rectum), and melena (black, tarry stools). Other signs can include weight loss, anorexia, abdominal discomfort, jaundice, pruritus, altered mental status, and muscle cramps.
In the initial assessment, a thorough review of the patient's medical history is vital to identify risk factors such as liver disease, alcohol abuse, or...
In the initial assessment, a thorough review of the patient's medical history is vital to identify risk factors such as liver disease, alcohol abuse, or...
01:26Effect of Hepatic Disease on Pharmacokinetics: Drug Dosing and Hepatic Blood Flow
Chronic liver disease significantly impacts drug metabolism due to alterations in hepatic blood flow and enzyme accessibility. This disruption affects the body's pharmacokinetics—the movement and processing of drugs within the system. Key enzymes crucial for metabolizing medications become less accessible, changing how drugs are processed and utilized. Furthermore, liver disease influences the synthesis of plasma proteins, such as albumin and globulins, which play critical roles in drug binding...
01:22Effect of Hepatic Disease on Pharmacokinetics: Pathophysiologic Assessment and Liver Function Test
In clinical practice, the direct measurement of hepatic blood flow to evaluate liver function presents significant challenges due to the intricate and specialized nature of the necessary techniques. Consequently, healthcare professionals often rely on empirical estimates derived from thorough patient examinations and liver function tests to gauge liver health. Among the tools at their disposal, the Child–Pugh and MELD scoring systems stand out for their ability to categorize and assess the...
01:24Cirrhosis II: Pathophysiology
Cirrhosis is a progressive chronic liver injury caused by prolonged inflammation, excessive fibrotic remodeling, and impaired regeneration. Over time, repeated hepatic insults disrupt the liver’s architecture and function, leading to reduced blood flow, impaired bile drainage, and diminished metabolic capacity.Pathophysiology of cirrhosisCirrhosis arises from three main responses to chronic liver damage: inflammation, immune activation, and hepatocyte death. These processes lead to structural...
01:29Hepatic Encephalopathy
DefinitionHepatic encephalopathy is a reversible neurologic syndrome that results from advanced liver dysfunction or portosystemic shunting. It leads to disturbances in cognition, behavior, and motor function due to the brain’s exposure to gut-derived toxins that the liver fails to detoxify.EtiologyThis condition develops either in the setting of acute fulminant hepatitis or progressively during chronic liver disease, such as cirrhosis and portal hypertension. Portosystemic shunting—including...