Wilson disease with acute liver failure case presentation
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The document describes a case of a 30-year-old woman presenting with jaundice and altered mental status who was diagnosed with acute liver failure of unknown etiology. On examination, she had signs of hepatic encephalopathy and lab work showed elevated liver enzymes and coagulopathy. Further testing ruled out common causes of viral hepatitis and Wilson's disease, and the patient's condition deteriorated requiring ventilator support and consideration for liver transplant.
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Case scenarios in wilson disease by Dr Aabha Nagral
This document presents 4 case scenarios of patients with possible Wilson's disease:
1) A 16-year-old boy with liver dysfunction, tremors, and other symptoms. Tests confirmed low ceruloplasmin and elevated urine copper, diagnosing Wilson's disease.
2) An 8-year-old boy with a family history of liver disease. Low ceruloplasmin and KF rings confirmed Wilson's disease.
3) A 38-year-old man with liver dysfunction and severe neurological symptoms. Tests confirmed Wilson's disease affecting both the liver and brain.
4) A 2-year-old asymptomatic girl with a family history. Testing revealed subclinical Wilson's disease,
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2) The acute insult can be due to infections like hepatitis viruses, drugs, alcohol use, or other causes, while the underlying chronic liver disease can be due to conditions like hepatitis, alcohol, or non-alcoholic fatty liver disease.
3) Prognostic scores like MELD, CLIF-SOFA, and AARC are used to determine disease severity and predict outcomes in ACLF, with higher scores indicating poorer prognosis. Management involves treating the acute insult, supporting failing organs, and consideration
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This document presents 4 case scenarios of patients with possible Wilson's disease:
1) A 16-year-old boy with liver dysfunction, tremors, and other symptoms. Tests confirmed low ceruloplasmin and elevated urine copper, diagnosing Wilson's disease.
2) An 8-year-old boy with a family history of liver disease. Low ceruloplasmin and KF rings confirmed Wilson's disease.
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1) Acute-on-chronic liver failure (ACLF) is a condition where an acute hepatic insult further decompensates an underlying chronic liver disease, leading to liver failure within 4 weeks.
2) The acute insult can be due to infections like hepatitis viruses, drugs, alcohol use, or other causes, while the underlying chronic liver disease can be due to conditions like hepatitis, alcohol, or non-alcoholic fatty liver disease.
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- On examination, he appeared drowsy and irritable. Investigations confirmed hepatic encephalopathy.
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Wilson disease is an autosomal recessive genetic disorder caused by mutations in the ATP7B gene, which encodes a copper-transporting ATPase. This leads to toxic buildup of copper in the liver, brain, and eyes. Accumulated copper causes tissue damage through free radical formation, binding to cellular proteins, and displacing other metals in enzymes. In children, copper escapes the damaged liver and deposits in other tissues like the brain, kidneys, and cornea. Clinical features include liver disease, neurological or psychiatric symptoms, hypoarathyroidism, and a brown ring around the eye. Diagnosis involves testing for increased urinary copper, decreased serum ceruloplasmin, and high copper levels in liver biopsy
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3. MLDs can present early in infancy with features like galactosemia, tyrosinemia, or cystic fibrosis or later with glycogen storage disease, Wilson's disease, or lipid storage disorders.
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1) Acute-on-chronic liver failure (ACLF) describes acute deterioration of liver function in patients with previously stable chronic liver disease, due to a precipitating event.
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This document provides information on Wilson disease, a rare genetic disorder that causes copper to accumulate in the body's tissues. Key points include:
- It is caused by mutations in the ATP7B gene which normally encodes a copper-transporting ATPase that exports copper from liver cells.
- Symptoms vary but commonly include liver disease, neurological or psychiatric issues, and occasionally kidney problems.
- Diagnosis involves blood tests and liver biopsies to check for high copper levels.
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Wilson disease
Wilson disease is a rare genetic disorder that causes copper to accumulate in the body's organs. It is caused by mutations in the ATP7B gene and prevents the body from properly processing copper. Left untreated, copper builds up in the liver, brain, kidneys and eyes, causing organ damage. Symptoms vary depending on the affected organs but may include liver problems, neurological issues, and Kayser-Fleischer rings forming around the eyes' irises. Treatment focuses on removing excess copper from the body using medication and a low-copper diet.
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Wilson Disease
Wilson disease is an autosomal recessive genetic disorder that causes copper to accumulate in the liver and other organs. It is caused by mutations in the ATP7B gene which impairs copper excretion from the liver. Clinical presentations vary depending on age, with most patients under 10 presenting with liver disease and older patients presenting with neurological or psychiatric symptoms. Diagnosis involves testing for low serum ceruloplasmin, elevated urinary copper levels, elevated liver copper content, and sometimes genetic testing. Treatment aims to reduce copper levels through chelation therapy or zinc supplementation.
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- The patient, a 43-year-old male, presented with altered sensorium since the previous evening.
- He has a history of end-stage liver disease and portal hypertension with recurrent hepatic encephalopathy.
- On examination, he appeared drowsy and irritable. Investigations confirmed hepatic encephalopathy.
- He was diagnosed with hepatic encephalopathy due to alcoholism and prescribed medications including cefotaxime, pantoprazole, ondansetron, lactulose, ursodeoxycholic acid, rifaximin, and L-ornithine-L-aspartic acid to treat the condition and its symptoms.
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Wilson disease
Wilson disease is an autosomal recessive genetic disorder caused by mutations in the ATP7B gene, which encodes a copper-transporting ATPase. This leads to toxic buildup of copper in the liver, brain, and eyes. Accumulated copper causes tissue damage through free radical formation, binding to cellular proteins, and displacing other metals in enzymes. In children, copper escapes the damaged liver and deposits in other tissues like the brain, kidneys, and cornea. Clinical features include liver disease, neurological or psychiatric symptoms, hypoarathyroidism, and a brown ring around the eye. Diagnosis involves testing for increased urinary copper, decreased serum ceruloplasmin, and high copper levels in liver biopsy
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Spontaneous Bacterial Peritonitis (SBP)
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Case presentation neurology
This patient, a 65-year-old male, presented with 6 months of difficulty walking and 4 months of forgetfulness and hallucinations. Examination found he was semiconscious with rigidity and myoclonic jerks. Imaging and tests were consistent with a prion disease like Creutzfeldt-Jakob disease (CJD). A lumbar puncture found elevated proteins. He was diagnosed with a rapidly progressive neurodegenerative condition likely CJD.
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This document discusses metabolic liver disease (MLD), including:
1. MLDs can be classified based on their effects, ranging from no harm to the liver to significant liver injury.
2. Data from Indian hospitals shows MLD cases are increasing and now represent a significant portion of liver diseases seen.
3. MLDs can present early in infancy with features like galactosemia, tyrosinemia, or cystic fibrosis or later with glycogen storage disease, Wilson's disease, or lipid storage disorders.
4. Diagnosing MLD can be challenging due to non-specific signs, genetic heterogeneity, and lack of diagnostic facilities in some areas.
Acute on chronic liver failure
1) Acute-on-chronic liver failure (ACLF) describes acute deterioration of liver function in patients with previously stable chronic liver disease, due to a precipitating event.
2) The Asian Pacific Association for the Study of the Liver defined ACLF as acute hepatic insult (jaundice and coagulopathy) within 4 weeks of ascites and/or encephalopathy in patients with chronic liver disease.
3) Pathogenesis involves systemic inflammatory response, neutrophil dysfunction, circulatory changes, oxidative stress, and circulating toxins that further damage the liver and impair regeneration.
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Day and night just to finish it !!!
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A 35-year-old male auto driver was admitted with decreased urine output for 3 days and abdominal pain and fever for 10 days. Examination found pallor and abdominal tenderness. Tests showed acute kidney injury and a urine culture grew gram-negative bacilli. He was diagnosed with acute pyelonephritis likely caused by E. coli infection. He received IV and oral antibiotics and underwent hemodialysis. His kidney function and other lab values gradually improved with treatment.
WILSON`S DISEASE
Wilsons Disease is an autosomal recessive genetic disorder caused by mutations in the ATP7B gene which results in copper accumulation in tissues. Key points:
- It presents with hepatic (cirrhosis, hepatitis), neurological (movement disorders), or psychiatric symptoms. Kayser-Fleischer rings seen in eyes.
- Diagnosis involves low serum ceruloplasmin, high copper levels in liver/urine, liver biopsy. Treatment aims to remove excess copper with chelating agents like penicillamine, trientine, or zinc. Lifelong treatment is needed to manage the condition.
- If left untreated it can lead to liver failure or neurological deterioration. Liver transplantation may be considered in
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This document defines different types and grades of ascites and outlines guidelines for diagnosing and treating ascites caused by cirrhosis. It describes diagnostic paracentesis to analyze ascitic fluid and determine the cause. Treatment involves dietary salt restriction, diuretics like spironolactone and furosemide, and therapeutic paracentesis with volume expansion to drain large amounts of fluid. The prognosis is poor, with 50% mortality within two years of developing ascites, indicating evaluation for liver transplantation should be considered.
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This document provides an overview of acute liver failure (ALF), including definitions, causes, prognosis, management, and treatment considerations. Some key points:
- ALF is defined as coagulation abnormality with any degree of encephalopathy and illness duration under 26 weeks without preexisting cirrhosis. Prior to transplantation, survival was under 15%; it is now over 65% including those who receive transplants.
- Prognostic factors for outcomes include stage of encephalopathy, laboratory markers, etiology, INR, bilirubin, encephalopathy, and multiorgan failure. Scoring systems like MELD and King's College criteria are used but do not perfectly predict survival.
- Liver
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CASE PRESENTATION ON HEPATIC ENCEPHALOPATHY DUE TO ALCOHOLISM
CASE PRESENTATION ON HEPATIC ENCEPHALOPATHY DUE TO ALCOHOLISM
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Metabolic Liver Disease definitions by Dr. Ashish Bavdekar
Practical approach to fever with altered liver functions
Practical approach to fever with altered liver functions
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Wilson disease
This document provides information on Wilson disease, a rare genetic disorder that causes copper to accumulate in the body's tissues. Key points include:
- It is caused by mutations in the ATP7B gene which normally encodes a copper-transporting ATPase that exports copper from liver cells.
- Symptoms vary but commonly include liver disease, neurological or psychiatric issues, and occasionally kidney problems.
- Diagnosis involves blood tests and liver biopsies to check for high copper levels.
- Treatment aims to reduce copper levels and involves lifelong use of chelating drugs like penicillamine or trientine or zinc supplements. Patients require monitoring to check for side effects or adequacy of treatment.
Wilson disease
Wilson disease is a rare genetic disorder that causes copper to accumulate in the body's organs. It is caused by mutations in the ATP7B gene and prevents the body from properly processing copper. Left untreated, copper builds up in the liver, brain, kidneys and eyes, causing organ damage. Symptoms vary depending on the affected organs but may include liver problems, neurological issues, and Kayser-Fleischer rings forming around the eyes' irises. Treatment focuses on removing excess copper from the body using medication and a low-copper diet.
Wilson disease
A 13-year-old boy presented with difficulty in speech and writing for 4 years as well as abnormal liver function tests and seizures. Examination revealed splenomegaly, bilateral gynecomastia, increased muscle tone, and Kayser-Fleischer rings in the eyes. MRI showed hyperintensity and hypointensity in the basal ganglia and putamen region. Laboratory tests confirmed low serum albumin and increased ALT. The patient was diagnosed with Wilson's disease, an autosomal recessive disorder characterized by degenerative changes in the brain and liver disease caused by a defect in copper transport leading to copper accumulation.
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Wilson’s disease
Wilson's disease is an inherited disorder that causes copper to accumulate in the liver and other organs. This document discusses the pathophysiology, clinical manifestations, diagnosis, and treatment of Wilson's disease. It provides guidelines from the European Association for the Study of the Liver and the American Association for the Study of Liver Diseases. Key points include that Wilson's disease should be considered for any unexplained liver or neurological conditions, a low ceruloplasmin level supports the diagnosis, treatment is lifelong chelation therapy or zinc, and liver transplantation may be needed for decompensated cirrhosis.
Wilson disease
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Genetics of Wilson’s Disease
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Wilsons disease
Here are 3 credible sources that provide information on Wilson's disease:
- PubMed Health, an online resource from the National Library of Medicine and National Institutes of Health, provides a detailed overview of Wilson's disease including causes, symptoms, diagnosis, and treatment.
- The Mayo Clinic website offers information on Wilson's disease symptoms, diagnosis, and management written for patients and caregivers.
- The National Institute of Neurological Disorders and Stroke (NINDS) has a fact sheet on Wilson's disease that discusses genetics, signs and symptoms, diagnosis, and current research.
Wilson’s disease
Wilson's Disease is an autosomal recessive genetic disorder that causes copper to accumulate in the liver and other organs. It is caused by mutations in the ATP7B gene which encodes a copper-transporting ATPase. Left untreated, it can cause liver disease and neurological symptoms. The document discusses the history, signs and symptoms, investigations, treatment and management of Wilson's Disease including chelation therapy and dietary modifications to remove excess copper from the body.
Wilson disease & general discussion on copper metabolism
This document provides an overview of Wilson disease, including its epidemiology, genetics, pathophysiology, clinical features, diagnosis, and treatment. Key points include:
- Wilson disease is an autosomal recessive disorder caused by mutations in the ATP7B gene resulting in copper accumulation.
- It occurs worldwide with an incidence of 1 in 30,000. Symptoms typically onset between ages 6-40.
- Clinical presentation can include hepatic, neurological, and psychiatric features. Kayser-Fleischer rings seen on eye exam and low ceruloplasmin levels support diagnosis.
- Treatment involves chelation therapy with penicillamine or trientine to remove excess copper from the body. Zinc can also
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Neurologic Wilson Disease presents challenges for pediatricians. It is an inherited disorder of copper metabolism caused by a defect in the ATP7B gene. Symptoms range from neurological to psychiatric to hepatic. Diagnosis involves low ceruloplasmin, high urinary copper, liver biopsy, and genetic testing. Treatment goals are lifelong copper chelation, typically with penicillamine, trientine, or zinc, along with a low copper diet. Prognosis is good if treatment begins promptly, with neurological symptoms typically improving within 1-3 years. Strict follow up is needed to monitor treatment response and complications.
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The panel discussion focused on developmental, speech, psychiatric and counseling issues related to Wilson's disease. The panelists were experts in neurology, speech pathology, psychiatry and counseling. Key topics discussed included:
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Genetic counseling was recommended for families planning pregnancy due
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Wilson disease with acute liver failure case presentation
- 1. Acute liver failure Chirag Shah Department of Gastroenterology KEM Hospital
- 2. History • YAS 30-year-old married woman • Referred with – Jaundice since 10 days – No prodromal symptoms – Altered sensorium since 3 days • Progressive • At admission – not responding to verbal commands
- 3. History • No history of – fever, pain in abdomen, nausea, vomiting – mucosal bleeding, petechiae, ecchymosis – jaundice, ascites, altered sensorium or GI bleed in past • Past history – fracture forearm at 15 years of age; underwent surgery – No history of blood transfusion, tattooing, dental treatment or sexual promiscuity • No history of addiction, recent drug ingestion
- 4. History • LMP - 15 days back • G2P2A0 • Birth history – Third degree consanguinity
- 5. Examination • Altered sensorium – Not following verbal commands • Temperature – normal • Heart rate 62/min • Respiratory rate 16/min, regular • Icterus + • Pallor + • No clubbing, cyanosis, lymphadenopathy, neck vein engorgement, pedal edema
- 6. Abdominal examination • Liver – 2 cm palpable, firm with sharp edge, smooth surface • Spleen – not palpable • No flank dullness • No lump • No dilated veins
- 7. CNS examination • Altered sensorium • GCS – 8/15 • No focal neurological deficit • DTR – brisk • Plantar reflex – equivocal • Pupils semi-dilated – reacting to light
- 8. Clinical diagnosis • Acute liver failure • Etiology ? – Viral hepatitis • Hepatitis E • Hepatitis B • Hepatitis A • Non A non E – Wilson’s disease – Autoimmune hepatitis
- 9. Investigations • Hemoglobin 11.2 gm/dL • Total count 16000/cumm • Platelet count 1.6 lac/dL • S. Na 142 mEq/L • S. K 4.2 mEq/L • S Creatinine 1.6 mg/dl • BUN 30 mg/dL • S. Ammonia 205 ng/L
- 10. Liver function test Liver function test 15-12-11 day 5 of illness 20-12-11 day 10 Total bilirubin (mg/dL) 13.2 14.8 Direct bilirubin (mg/dL) 8.2 8.6 AST (IU/mL) 868 900 ALT (IU/mL) 375 452 Alkaline phosphatase 10 16 (IU/mL) Total protein (g/dL) 7.4 7.3 Albumin (g/dL) 2.8 2.6 INR 4.2 4.5 GGT (IU/l) 27 25
- 11. Investigations • Serology for hepatitis viruses – HbsAg: Negative – Ig M anti HBc antibody: Negative – Anti HCV: Negative – Ig M HEV: Negative – Ig M HAV: Negative
- 12. Investigations • S. ANA : Negative • S. cerruloplasmin: 8 mg/dL (Normal value:20- 50mg/dl ) • 24 hour urinary copper: 110 mcg/24 h • KF ring : Negative
- 13. Investigations • USG abdomen – Mild hepatomegaly with altered echotexture – Mild splenomegaly – Mild ascites • Hepatoportal doppler – Hepatic veins patent – IVC patent – Portal vein 10 mm – No collaterals
- 14. Course during hospitalization • Patient deteriorated neurologically • Now, on ventilatory support • Requires transplant • But not affording ……