Fulminant Wilson’s Disease Managed with Plasmapheresis as a Bridge to Liver Transplant

Hilal, Talal; Morehead, Richard Scott

doi:10.1155/2014/672985

Cited by 17 publications

(19 citation statements)

References 14 publications

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“…The irreversible chronic liver failure in this patient was consistent with the view that p.Arg778Leu-patients often have severe clinical manifestations [50]. After the surgery, his hepatic function test results improved, and he is expected to develop no further complications resulted from copper excess [56].…”

Section: Discussionsupporting

confidence: 86%

Mutation Analysis of the ATP7B Gene in Seven Chinese Families with Wilson’s Disease

Xiao

Deng

et al. 2018

Digestion

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Background: Wilson’s disease (WD) is an autosomal recessive disease, which is characterized by an excessive copper accumulation in the liver and brain, leading to subsequent hepatic and/or neurological disorders. The causative gene for WD has been identified as the ATPase Cu²⁺ transporting beta polypeptide gene (ATP7B), which encodes a protein called copper-transporting ATPase 2. ATP7B mutations may lead to reduced biliary excretion of excess copper and disrupted copper homeostasis, resulting in various clinical symptoms of WD. Methods: Direct sequencing of the ATP7B gene was performed in 7 Han Chinese families with WD, and haplotype analysis was conducted in families having the same mutation. Results: Nine ATP7B gene mutations were identified, including 7 missense mutations (p.Asp765Gly, p.Arg778Leu, p.Thr888Pro, p.Pro992Leu, p.Asp1047Val, p.Ile1148Thr and p.Ala1295Val), 1 duplication mutation (c.525dupA), and 1 nonsense mutation (p.Gly837*). Combined with our previous data, haplotype analysis revealed that the founder effect accounted for 48% of alleles in Han Chinese, constituted by high allele frequency mutations p.Arg778Leu, p.Pro992Leu and p.Ala1295Val. Conclusion: This study revealed genetic defects of 7 Han Chinese families with WD, and has implications for their genetic counseling and clinical management.

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Section: Discussionsupporting

confidence: 86%

Mutation Analysis of the ATP7B Gene in Seven Chinese Families with Wilson’s Disease

Xiao

Deng

et al. 2018

Digestion

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“…An added advantage in this clinical situation is the replenishment of coagulation factors with plasma replacement. The efficacy of PLEX in removing excess copper in patients with fulminant WD has been illustrated in several case reports [6, 10, 12, 13, 18-21]. In our second patient, serum copper levels were reduced by 47% after the first PLEX, confirming its efficacy.…”

Section: Discussionsupporting

confidence: 79%

“…Therapy includes chelation with agents such as D-penicillamine and trientine to reduce serum copper levels [5], but this is often limited by the presence of acute kidney injury, which prevents adequate urinary copper removal by chelation. The mortality rate among such patients approaches 100% without a liver transplant [6]. …”

Section: Introductionmentioning

confidence: 99%

“…Various methods reported to bridge to transplantation include single pass albumin dialysis (SPAD), plasma exchange (PLEX), and molecular adsorbent recirculating systems (MARS), but no consensus exists on the preferred treatment [4, 6, 9-14]. We report the effective use of SPAD alone and in combination with PLEX as a bridge to liver transplantation in 2 patients with fulminant WD.…”

Section: Introductionmentioning

confidence: 99%

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Single Pass Albumin Dialysis and Plasma Exchange for Copper Toxicity in Acute Wilson Disease

Bakhsh

Teoh

Harvey

et al. 2019

Case Rep Nephrol Dial

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Background: Wilson disease (WD) is a disorder of copper metabolism that results in accumulation of copper in tissues. In acute WD, patients present with fulminant hepatic failure, encephalopathy, and hemolytic anemia due to copper release from necrotic hepatocytes. Many will require life-saving liver transplantation. Extracorporeal liver support systems can provide a bridge to transplantation for critically ill patients. We report our experience with 2 patients for whom we used a combination of plasma exchange (PLEX) and single pass albumin dialysis (SPAD), or SPAD alone as a bridge to liver transplantation. Case Reports: A 17-year-old girl (patient 1) and a 12-year-old boy (patient 2) presented with fulminant hepatic failure, hemolytic anemia, and acute kidney injury. Patient 1 received SPAD on days 2 and 3 (total 32 h). Serum copper decreased from 22.3 to 15.9 µmol/L (28.7% decrease), measured after 28 h of continuous SPAD. She underwent successful liver transplantation on day 4 after presentation. Patient 2 was treated with PLEX on days 1, 3, 4, and 5 and with SPAD on days 3–6. Serum copper decreased from 48.7 to 25.8 µmol/L (47% decrease) after the first session of PLEX and from 35.5 to 21.5 µmol/L (39.4% decrease) after the second session. The serum copper level was 16.2 µmol/L after 4 sessions of PLEX (and ongoing SPAD), with an overall 66.7% reduction in copper levels over 5 days combining both therapies. He underwent successful liver transplantation on day 6. Conclusion: We conclude that SPAD, with or without PLEX, is effective in reducing serum copper levels as a bridge to liver transplantation in WD. PLEX may be more efficient at removing copper but is associated with a rebound increase in copper levels between sessions.

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“…Knowledge of the efficacy of liver donor liver transplantation (LDLT) experience on WD associated with fulminant hepatic failure (WD-FHF) is insufficient because only rare cases have been treated with LDLT. In the United States, approximately 6% of patients undergo transplantation for WD-FHF [ 6 , 7 ], and almost all of these cases are treated with deceased donor liver transplants (DDLT) [ 8 – 11 ]. In Japan, about 129 patients (1.5%) have undergone LT for WD, and only two cases, both children, were reported with LDLT due to WD-FHF in 2002 [ 12 ].…”

Section: Introductionmentioning

confidence: 99%

Living Donor Liver Transplantation for Wilson’s Disease Associated with Fulminant Hepatic Failure: A Case Report

et al. 2018

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Patient: Female, 17Final Diagnosis: Fulminant Wilson’s diseaseSymptoms: General jaundice • malaise • abdominal painMedication: —Clinical Procedure: ICUSpecialty: TransplantologyObjective:Rare diseaseBackground:Liver transplantation is indicated for patients with Wilson’s disease (WD) who present either with acute liver failure or with end-stage liver disease and severe hepatic insufficiency as the first sign of disease. However, almost all reported cases have been treated with death donor liver transplantation. Here we report the case of a patient with WD associated with fulminant hepatic failure (WD-FHF) who underwent living donor liver transplantation (LDLT).Case Report:A 17-year-old female was diagnosed with WD-FHF based on high uric copper (10 603 μg/day, normal <100 μg/day), low serum ceruloplasmin (15 mg/dL, normal >20 mg/dL) and Kayser-Fleischer (K-F) corneal ring, and acute liver failure (ALF), acute renal failure (ARF) and grade 2 hepatic encephalopathy (HE). The model for end-stage liver disease (MELD) score was 35. Due to her critical condition, the patient underwent LDLT utilizing a right liver graft from her 44-year-old mother. The right hepatic vein (RHV) and inferior right hepatic vein (iRHV) were reconstructed. She developed severe liver dysfunction due to a crooked hepatic vein caused by compression from the large graft. To straighten the bend, a reoperation was performed. During the operation, we tried to relieve the compressed hepatic vein by adjusting the graft location, but the benefits were limited. We therefore performed stenting in both the RHV and iRHV on postoperative day 9. The patient gradually improved, exhibiting good liver and renal functions, and was finally discharged on postoperative day 114.Conclusions:When WD-FHF deteriorates too rapidly for conservative management, LDLT is an effective therapeutic strategy.

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Fulminant Wilson’s Disease Managed with Plasmapheresis as a Bridge to Liver Transplant

Cited by 17 publications

References 14 publications

Mutation Analysis of the ATP7B Gene in Seven Chinese Families with Wilson’s Disease

Mutation Analysis of the ATP7B Gene in Seven Chinese Families with Wilson’s Disease

Single Pass Albumin Dialysis and Plasma Exchange for Copper Toxicity in Acute Wilson Disease

Living Donor Liver Transplantation for Wilson’s Disease Associated with Fulminant Hepatic Failure: A Case Report

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