Original Article - Current Pediatric Research (2025) Volume 29, Issue 1

Plasma exchange as a treatment for hemolytic crisis and acute liver failure in Wilson disease.

Devang Gandhi^*, Suraj Patel, Hiteshee Patel

Department of Pediatrics, Veer Narmad South Gujarat University, Gujarat, India

Corresponding Author:

Devang Gandhi
Department of Pediatrics, Surat Municipal Institute of Medical Education and Research, Gujarat, India
E-mail: drdevang1981@gmail.com

Received: 27 February, 2024, Manuscript No. AAJCP-25-152335; Editor assigned: 01 March, 2024, Pre QC No. AAJCP-25-152335 (PQ); Reviewed: 15 March, 2024, QC No. AAJCP-25-152335; Revised: 31 January, 2025, Manuscript No. AAJCP-25-152335 (R); Published: 28 February, 2025, DOI:10.35841/0971-9032.29.01.2337-2340.

Abstract

Wilson Disease (WD) is a genetic disorder resulting in copper accumulation, leading to liver failure and neurological symptoms. Acute Liver Failure (ALF) in WD often necessitates urgent liver transplantation due to its poor prognosis. This report details the use of Plasma Exchange (PE) in a 7- year-old girl with WD who presented with ALF and hemolytic anemia. Despite the severe clinical condition and laboratory findings indicative of WD, the family opted for PE against immediate liver transplantation. The child was started on PE with the Spectra Optia® Apheresis System and Dpenicillamine and zinc were introduced. Four PE sessions were performed on alternate day, each lasting 1.5 to 2 hours, exchanging approximately 1,100 mL of plasma per session. Post-treatment, the child showed significant improvement in hemolysis, bilirubin levels and liver function tests, providing a temporary stabilization that allowed for bridging to potential transplantation. This case underscores the role of PE as a viable option for managing WD-related ALF, highlighting its effectiveness in reducing copper levels and stabilizing the patient’s condition when transplantation is not immediately feasible. This experience contributes to the growing body of evidence supporting PE as a bridging therapy in severe Wilson disease cases.

Keywords

Wilson disease, Acute liver failure, Potential transplantation, Plasma exchange.

Abbreviations

Hb: Hemoglobin; TLC: Total Leukocyte Count; Plt Platelet count; PT: Prothrombin Time; Cr Serum creatinine; AST: Aspartate Aminotransferase; ALT: Alanine Aminotransferase; ALP: Alkaline Phosphatase; Bil: Total serum bilirubin; Alb; Serum Albumin; Ser Cu: Serum Copper; PE; Plasma Exchange

Introduction

Wilson Disease (WD) is a rare autosomal recessive disorder causing copper accumulation in organs like the liver and brain. Acute Liver Failure (ALF) is a severe complication requiring urgent diagnosis and treatment due to its rapid progression. This report highlights a 7-year-old girl with WD, ALF and hemolytic anemia. Her family declined liver transplantation, prompting Plasma Exchange (PE) as bridging therapy to reduce copper, control hemolysis and stabilize liver function. PE, combined with copper chelation, demonstrated potential to delay clinical deterioration. This case emphasizes personalized approaches for managing rare WD complications, considering clinical and socio-economic factors.

Case Report

A 7-year-old girl weighing 19.4 kg presented to the pediatric emergency with abdominal distension and pain for 3 days, breathlessness for 3 days, jaundice for 3 days and excessive irritability for 2 days. There was no past or family history of jaundice or blood transfusion. She had severe pallor, icterus, facial puffiness and pedal edema. She was irritable and had mild confusion. Abdominal examination revealed a firm hepatomegaly with ascites. A diagnosis of ALF with stage I hepatic encephalopathy was made and appropriate management started.

The laboratory investigations revealed: Hemoglobin-6.5 g/dL; features of hemolysis in the peripheral blood smear; direct Coombs test negative; blood urea/creatinine-17/0.7 mg/dL; total/direct bilirubin-23.4/8.4 mg/dL; Aspartate aminotransferase-117 U/L; Alanine aminotransferase-29 U/L; Alkaline phosphatase (ALP)-48 U/L; Prothrombin time-18 min, activated partial thromboplastin time-42.8, INR 3.9. On ophthalmic examination Kayser-Fleischer ring was present. The above-mentioned laboratory parameters suggested WD as the underlying cause of the ALF. Serum Ceruloplasmin was <3 mg/dL (Normal-25 mg/dL?63 mg/dL), Serum copper was 1.293 mg/dL (Normal-0.7 mg/dL?1.8 mg/dL) and 24-hour urinary copper was 263.35 ?g (Normal <60 ?g/d). The authors did not perform a liver biopsy in view of the clinical condition.

Based on these features, the child was diagnosed as WD presenting in ALF. Liver transplantation would have been ideal treatment option for this child but as the family was not willing for a transplant at that moment, the child was started on Plasma Exchange (PE) (Spectra Optia