Review Article on Wilson's disease

Abstract

Vignette
A 24-year-old female presented to the emergency department (ED) with a history of feeling unwell
for the last few days in the form of nausea, vomiting, abdominal pain, and jaundice. Her past medical
history is unremarkable apart from repeated miscarriages in the past. She was investigated before for
antiphospholipid syndrome and was negative. She has two children, a boy aged 9 and a girl aged 6.
On examination, she was hypotensive with a blood pressure of 90/60 mm Hg; heart rate of 110/min
regular, and oxygen saturation of 99% on room air. She was icteric without any other signs of chronic
liver disease.
Initial Investigations revealed the following-
Normal kidney function
Liver Function Tests (LFTs)-
- Total Bilirubin - 2.1 milligram/dl (0.1-1.2)
- Fractionation of Bilirubin- 100% unconjugated
- AST 500U/L(8-48)
- ALT 200U/L(5-55)
- ALP(150 U/L(40-129)
- GTT 68 U/L(6-61)
- LDH 300 U/L(122-223)
- Albumin 2.5 g/dl (3.5-7.9)
- Total protein 6 grams/dl (6-8)
Coagulation Profile-
- Prothrombin time (25 sec) (9-13)
- INR 1.8
Full Blood Counts
- HB 70 g/L (11.6-16); MCV 100fl(80-100fl); MCH 32 pg (27-32)
- Reticulocytes 10% (0.5-2.5%)
- WBC 11000cells/microL) (4000-11000 cells/microL)
- Platelets 380,000 cells/microL (150-400 cells/microL)
Viral Serology- HepB/C/HIV/CMV/EBV: Negative
Coombs test negative
Serum Immunoglobulins
- Immunoglobulin IGG 18 g/L (6-16)
- IgA 3.3 g/L (0.8-3 G/L)
- IgM 2.6 G/L (0.4-2.5)
U/S abdomen-
Normal liver architecture, no organomegaly, no hydronephrosis or renal obstruction.
The patient was admitted to the hepatology team and subsequently treated with fluids and steroids
for autoimmune hepatitis pending the results of the autoimmune screen. However, the LFTs and the
patient’s clinical status did not improve.
How will you establish the diagnosis and management?
The Clinical Problem
Although Wilson disease may cause liver dysfunction (acute/subclinical/chronic), it is not the primary/
common cause of acute hepatitis. Due to its rarity and the threat of significant mortality if not diagnosed
and treated promptly, diagnosing Wilson's disease in acute hepatitis can be tremendously arduous. Here
we discuss the diagnostic challenge of Wilson's disease in acute hepatitis as well as the diagnostic
and management approach according to three guidelines - the American Association for the study of
liver diseases (AASLD) updated in 2008, the European Association for the study of the liver (EASL)
updated in 2012 and the European Society for Pediatric Gastroenterology, Hepatology and Nutrition
(ESPGHAN) updated in 2014..