Wilsons Disease Presenting as Acute Fulminant Hepatic Failure

Wilson’s disease (WD) is a genetic disorder characterised by mutations in copper metabolism. Adenosine triphosphate (ATPase) ATP7B gene is responsible for disturbance in copper metabolism that leads to accumulation of copper mainly in liver and also in extra hepatic organs (like brain, cornea, heart and kidney).1 Heavy metal accumulation in brain (mainly in basal ganglia) leads to neuropsychiatric manifestations.2 Kayser Fleischer (KF) ring is golden brown ring distributed along the periphery of cornea. It is due to abnormal deposition of copper in the Descemet’s membrane of cornea. Kayser Fleischer (KF) ring is a pathognomonic sign of Wilson’s disease. Fulminant hepatic failure can be the first presentation of WD. Patients presenting with fulminant Wilson’s disease (FWD) clinically present as acute liver failure with encephalopathy and coagulopathy. The mortality of patients is high and orthotropic liver transplantation is the only option, which has been shown effective in patients with Fulminant Wilson’s disease.3 We are report a case of a young male who presented as acute liver failure first time in life and later was diagnosed as FWD.

Download Full-text

Májátültetés Wilson-kóros betegekben, 1996–2017

Orvosi Hetilap ◽

10.1556/650.2019.31582 ◽

2019 ◽

Vol 160 (51) ◽

pp. 2021-2025

Author(s):

Dániel Németh ◽

Anikó Folhoffer ◽

Szilvia Bianka László ◽

László Kóbori ◽

Dénes Görög ◽

...

Keyword(s):

Liver Transplantation ◽

Liver Failure ◽

Acute Liver Failure ◽

Wilson’S Disease ◽

Copper Metabolism ◽

Wilson's Disease ◽

Chronic Liver ◽

Diagnostic Process ◽

Decompensated Liver Cirrhosis ◽

The Mean

Abstract: Introduction: Wilson’s disease is a lethal-without-treatment inherited disorder of copper metabolism. Despite the increased focus on the diagnosis and treatment, liver transplantation is needed in a number of cases even nowadays. Aim: To collect and analyze the data of the Hungarian Wilson’s disease patients who underwent liver transplantation. Method: Data of 24 Wilson’s disease patients who underwent liver transplantation at the Semmelweis University have been analyzed retrospectively. The diagnosis of Wilson’s disease was based on the international score system. The diagnosis of acute liver failure corresponded to the King’s College criteria. All liver transplantations had been performed at the Department of Transplantation and Surgery of Semmelweis University, in 1996 for the first time. Results: The mean age was 26 years, F/M = 13/11. Twelve patients needed urgent liver transplantation for acute liver failure, and 12 underwent transplantation for decompensated liver cirrhosis. One patient had been retransplanted because of chronic rejection. Three patients with acute on chronic liver failure were transplanted via the Eurotransplant program. The mean time on the waiting list was 3 vs 320 days in acute liver failure and chronic liver disease groups, respectively. The overall 5-year survival was 66%, but it was 80% after 2002 indicating both the learning curve effect and the improvement of vigilance in Hungary. Despite difficulties of the diagnostic process, Wilson’s disease was identified in 21/24 patients prior to the transplantation. Conclusion: Liver transplantation is needed in a number of cases of Wilson’s disease. The ideal indication and timing of transplantation may improve the survival of the patients. Orv Hetil. 2019; 160(51): 2021–2025.

Download Full-text

Wilson’s Disease in Children : An Update

Z H Sikder Women’s Medical College Journal ◽

10.47648/zhswmcj.2020.v0201.07 ◽

2020 ◽

Vol 2 (Number 1) ◽

pp. 27-30

Author(s):

Sadika Kadir ◽

Tamanna Begum ◽

Mohammed Ashraful Haque ◽

Nirupama Najim ◽

Shayma Chakravarty ◽

...

Keyword(s):

Liver Failure ◽

Acute Liver Failure ◽

Wilson’S Disease ◽

Psychiatric Symptoms ◽

Copper Metabolism ◽

Autosomal Recessive Disorder ◽

Wilson's Disease ◽

Atp7b Gene ◽

Biochemical Tests ◽

Serum Ceruloplasmin

Wilson’s Disease is an autosomal recessive disorder of copper metabolism due to ATP7B gene defect. This defect result in progressive toxic accumulation of copper in liver, CNS, cornea, skeletal system and other organs. Clinical presentations of Wilson’s disease (WD) in childhood ranges from asymptomatic liver disease to cirrhosis or acute liver failure, whereas neurological and psychiatric symptoms are rare. The basic diagnostic approach includes serum ceruloplasmin and 24-hour urinary copper excretion. Final diagnosis of WD can be established using a diagnostic scoring system based on symptoms, biochemical tests assessing copper metabolism, and molecular analysis of mutations in the ATP7B gene. Pharmacological treatment is life-long and aims at removal of copper excess by chelating agents as D-penicillamine, trientine or inhibition of intestinal copper absorption with zinc salts. Acute liver failure often requires liver transplantation. Genetic therapy and haplocyte transplantation represent future curative treatment for Wilson’s disease.

Download Full-text

Acute Fulminant Hepatic Failure in a Woman Treated With Phenytoin and Trimethoprim-Sulfamethoxazole

Archives of Pathology & Laboratory Medicine ◽

10.5858/2000-124-1800-afhfia ◽

2000 ◽

Vol 124 (12) ◽

pp. 1800-1803 ◽

Cited By ~ 1

Author(s):

Marius J-M. Ilario ◽

Jose E. Ruiz ◽

Constantine A. Axiotis

Keyword(s):

Liver Injury ◽

Liver Failure ◽

Acute Liver Failure ◽

Fulminant Hepatic Failure ◽

Hepatic Failure ◽

Acute Hepatic Failure ◽

Hepatic Necrosis ◽

Rare Occurrence ◽

Autopsy Findings ◽

Massive Hepatic Necrosis

Abstract Massive hepatic necrosis following exposure to phenytoin and trimethoprim-sulfamethoxazole is a rare occurrence and to the best of our knowledge has not been reported previously. Acute hepatic failure following administration of trimethoprim-sulfamethoxazole has rarely been seen, and only 4 cases have been well documented pathologically. We report a case of acute liver failure in a 60-year-old woman following ingestion of phenytoin and trimethoprim-sulfamethoxazole concomitantly over a 9-day period. Autopsy findings revealed acute fulminant hepatic failure. This case demonstrates the effects of chemical-chemical interactions in the potentiation of hepatotoxicity of single agents and specifically illustrates the need for discontinuing trimethoprim-sulfamethoxazole in the presence of early liver injury.

Download Full-text

Hemolysis, Coagulation Defects, and Fulminant Hepatic Failure as a Presentation of Wilson's Disease

Archives of Pediatrics and Adolescent Medicine ◽

10.1001/archpedi.1979.02130040094024 ◽

1979 ◽

Vol 133 (4) ◽

pp. 440

Author(s):

EDMUND J. DOERING

Keyword(s):

Fulminant Hepatic Failure ◽

Hepatic Failure ◽

Wilson’S Disease ◽

Wilson's Disease ◽

Coagulation Defects

Download Full-text

Acute Hepatic Failure

10.2310/surg.2412 ◽

2019 ◽

Author(s):

Derek J Erstad ◽

Motaz Qadan

Keyword(s):

Intensive Care ◽

Respiratory Distress Syndrome ◽

Liver Failure ◽

Respiratory Distress ◽

Acute Liver Failure ◽

Fulminant Hepatic Failure ◽

Cerebral Edema ◽

Hepatic Failure ◽

Distress Syndrome ◽

Diagnosis And Management

Acute liver failure (ALF) is a rare but highly morbid condition that is optimally managed by a multidisciplinary team of surgeons, hepatologists, and intensivists at a tertiary care center that specializes in liver disorders. ALF is caused by four primary mechanisms, including viral infections (most commonly Hepatitis A and B); toxicity from acetaminophen overdose or other substances; postoperative hepatic failure ; and miscellaneous causes such as autoimmune hepatitis, genetic disorders, or idiopathic etiologies. Unlike chronic liver failure in which the body develops compensatory, protective mechanisms, ALF may be associated with severe multisystem organ involvement, including respiratory distress syndrome, renal failure, and cerebral edema. Fulminant hepatic failure represents a rapidly progressive form of ALF that portends worse prognosis. Prompt diagnosis and management of multisystem organ dysfunction in an intensive care setting is paramount to survival. However, a subset of patients will fail to improve with medical management alone. Early identification of these individuals for emergent transplant listing has been shown to improve outcomes. Multiple predictive models for ALF survival have been developed, which are based on weighted evaluation of clinical and laboratory parameters. These models may be used to facilitate treatment, predict prognosis, and guide transplant listing. In this chapter, we provide an in-depth review these concepts, focusing on the classification, epidemiology, diagnosis, and management of ALF. This review contains 5 tables and 69 references. Key Words: acute liver failure, acute respiratory distress syndrome, coagulopathy, cerebral edema, fulminant hepatic failure, hepatic necrosis, liver transplantation, metabolic disarray, multidisciplinary intensive care, prognostication

Download Full-text

Inherited diseases of copper metabolism: Wilson’s disease and Menkes’ disease

Oxford Textbook of Medicine ◽

10.1093/med/9780198746690.003.0234 ◽

2020 ◽

pp. 2115-2120

Author(s):

Michael L. Schilsky ◽

Pramod K. Mistry

Keyword(s):

Liver Disease ◽

Fulminant Hepatic Failure ◽

Hepatic Failure ◽

Wilson’S Disease ◽

Menkes Disease ◽

Wilson's Disease ◽

Copper Transport ◽

Loss Of Function ◽

Copper Excretion ◽

P Type

Copper is an essential metal that is an important cofactor for many proteins and enzymes. Two related genetic defects in copper transport have been described, each with distinct phenotypes. Wilson’s disease—an uncommon disorder (1 in 30 000) caused by autosomal recessive loss-of-function mutations in a metal-transporting P-type ATPase (ATP7B) that result in defective copper excretion into bile and hence copper toxicity. Typical presentation is in the second and third decade of life with liver disease (ranging from asymptomatic to acute fulminant hepatic failure or chronic end-stage liver disease) or neurological or psychiatric disorder (dystonia, dysarthria, parkinsonian tremor, movement disorder, a spectrum of psychiatric ailments). While no single biochemical test or clinical finding is sufficient for establishing the diagnosis, typical findings include low serum ceruloplasmin, high urinary copper excretion, and elevated liver copper content. Corneal Kayser–Fleischer rings may be seen. Treatment is with copper chelating agents and zinc. Liver transplantation is required for fulminant hepatic failure and decompensated liver disease unresponsive to medical therapy. Menkes’ disease—a rare disorder (1 in 300 000) caused by X-linked loss-of-function mutations in a P-type ATPase homologous to ATP7B (ATP7A) that result in defective copper transport across intestine, placenta, and brain and hence cellular copper deficiency. Clinical presentation is in infancy with facial dimorphism, connective tissue disorder, hypopigmentation, abnormal hair, seizures, and failure to thrive, usually followed by death by age 3 years (although some variants with a milder phenotype result from milder mutations, e.g. occipital horn syndrome). Treatment, which is only effective when presymptomatic diagnosis is made in a sibling after florid presentation in a previous affected sibling, is with intravenous copper histidine.

Download Full-text