engleski

Acute liver failure in newly diagnosed Wilson’s disease – recovery without transplantation

Wilson’s disease (WD) is an autosomal recessive genetic disorder that leads to the impairment of cellular copper metabolism. Clinical presentation is heterogeneous, with predominantly hepatic, neurological and psychiatric manifestations. Acute decompensated WD presenting as fulminant liver failure is a life-threatening condition for which liver transplantation is the ultimate treatment. 14-year-old girl presented with acute abdominal pain and peripheral oedema lasting two weeks before onset of abdominal pain. On initial examination, patient was febrile, complaining of periumbilical pain, dyspnea, cough, presenting with anasarca, extensive limb oedema and ascites (gained 17 kg), without encephalopathy. Laboratory evaluation revealed Coombs-negative haemolytic anaemia (Hb 101 g/L, Rtc 125x109/L), thrombocytopenia (79x109/L), leukocytosis (19.27x109/L), mildly elevated inflammatory markers, hypergammaglobulinemia (IgG 21.7g/L) with reduced complement components (C3 0.24g/L, C4<0.08g/L), coagulopathy (INR>2.5), marked hypoalbuminemia (>15 g/L), mildly elevated bilirubin (49 µmol/L), slightly elevated liver enzymes (AST 63 U/L, GGT 98 U/L), borderline serum ammonia (52.3 µmol/L), normal ALT and alkaline phosphatase. Abdominal ultrasound showed large amounts of ascites, with mildly enlarged, structurally altered liver (irregular surface, nodular parenchyma) and splenomegaly, with no signs of hepatic vein thrombosis on Color Doppler and MRI. Heart ultrasound was normal. Kayser- Fleischer ring was negative on slit lamp examination. Viral serology (HAV, HBV, HCV, HEV, EBV, CMV, and Parvo B19) was negative as well as autoantibodies (ANA, SMA, LKM, ANCA, anti dsDNA). Serum alpha-1 antitrypsin level was normal. Diagnosis of Wilson’s disease was practically confirmed after demonstrating pronounced cupriuria (17.8 µmol/24h) ; serum ceruloplasmin was low (0.13 g/L) and serum copper levels slightly reduced (10.1 umol/L). Initial treatment was supportive (albumin infusions, vitamin K, fresh frozen plasma, diuretics, lactulose, antibiotics). Liver transplant was considered (on admission MELD score 24, King’s Wilson index 12 ; on day 10 MELD score 18, King’s Wilson index 8). The decision was made to attempt plasma exchange over three days and introduce penicillamine. The patient improved clinically, tolerated penicillamine well and was released subsequently after 34 days of hospitalization and five plasma exchanges overall. Liver synthetic function completely normalized few months later. Genetic analysis of ATP7B gene (H1069Q mutation) confirmed presence of the H1069Q mutation on one allele. We presented a patient suffering from WD in whom the disease presented acutely with development of liver failure with near-normal values of liver enzymes, mild hyperbilirubinemia, markedly impaired synthetic liver function and Coombs-negative haemolytic anaemia. Acute liver failure in WD may be successfully managed with plasma exchange therapy.

Wilson disease ; acute liver failure ; child

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