A tale of two sisters with liver disease

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FIGURE 1
Screening first-degree relatives of patients with Wilson disease
Based on information in Roberts EA, Schilsky ML; American Association for Study of Liver Diseases (AASLD). Diagnosis and treatment of Wilson disease: an update. Hepatology 2008; 47:2089–2111.
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FIGURE 2
Clinical triad for the diagnosis of Wilson disease in the setting of acute liver failure

TABLE 1

The patient’s laboratory values

Tests	Results	Normal range
Sodium	135 mmol/L	132–148
Potassium	4.8 mmol/L	3.5–5
Chloride	88 mmol/L	98–111
Bicarbonate	20 mmol/L	23–32
Blood urea nitrogen	20 mg/dL	10–25
Creatinine	1.0 mg/dL	0.7–1.4
Glucose	110 mg/dL	65–100
Hemoglobin	12.5 g/dL	12–16
White blood cell count	9.7 × 10⁹/L	3.70–11.00
Platelet count	199 × 10⁹/L	150–400
Alanine aminotransferase	45 U/L	0–45
Aspartate aminotransferase	152 U/L	7–40
Alkaline phosphatase	25 U/L	40–150
Bilirubin, total	32.5 mg/dL	0–1.5
Bilirubin, conjugated	22.5 mg/dL	0.0–0.4
Albumin	3.0 g/dL	3.5–5.0
International normalized ratio	4	0.77–1.17
Partial thromboplastin time	40 seconds	22–35
Amylase	76 U/L	0–137
Lipase	25 U/L	12–70
Urine dipstick for bilirubin	Positive
Pregnancy test	Negative

TABLE 2

Our patient’s serologic markers of viral hepatitis

Tests	Results
Hepatitis A virus antibody IgM	Negative
Hepatitis E virus antibodies IgG and IgM	Negative
Hepatitis B surface antigen	Negative
Hepatitis B surface antibody	Positive
Hepatitis B core antibody	Negative
Hepatitis C antibodies	Negative
Herpes simplex virus antibody IgM	Negative
Herpes simplex virus 1 DNA	Negative
Herpes simplex virus 2 DNA	Negative
Epstein-Barr virus DNA	Negative
Cytomegalovirus DNA	Negative
Varicella zoster virus DNA	Negative

TABLE 3

Treatments for Wilson disease

Drug	Mode of action	Neurologic deterioration	Side effects
D-penicillamine	Chelator, induces cupruria	10%–20% during initial phase of treatment	Fever, rash, lupus reaction, leukopenia, aplastic anemia, nephrotic syndrome, hepatotoxicity, retinitis
Trientine	Chelator, induces cupruria	10%–15% during initial phase of treatment	Gastritis Aplastic anemia
Tetrathiomolybdate	Aims to reduce level of free serum copper	Developed to protect central nervous system and other tissues vulnerable to free copper	Anemia Hepatotoxicity
Zinc	Blocks intestinal absorption of copper	No	Gastritis

Based on information in Roberts EA, Schilsky ML; American Association for Study of Liver Diseases (AASLD). Diagnosis and treatment of Wilson disease: an update. Hepatology 2008; 47:2089–2111.