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Reliable, easy-to-read patient information on common medical conditions — written in plain language, free of jargon, and grounded in current evidence. Browse the most frequent diagnoses, understand what they mean for everyday life, and learn which steps and questions help you have a focused conversation with your doctor.

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Wilson's disease differential diagnosis

Introduction

Overview

Overview

Wilson’s disease must be differentiated from other diseases that cause jaundice like hemochromatosis, viral hepatitis, alcoholic hepatitis, drug induced hepatitis, and autoimmune hepatitis.

Differentiating Wilson’s disease from other diseases

Differentiating Wilson’s disease from other diseases

The differential diagnosis for jaundice, click here.

The differential diagnosis for jaundice and RUQ pain, click here.

The differential diagnosis for jaundice and pruritis, click here.

The differential diagnosis for jaundice and fever, click here.

The differential diagnosis for jaundice, fever, and RUQ pain, click here.

The differential diagnosis for jaundice, pruritis and RUQ pain, click here.


Differential diagnosis of jaundice are: [1][2][3][4][5]

Classification of jaundice based on etiology Disease History and clinical manifestations Diagnosis
Lab Findings Other blood tests Other diagnostic
Family history Fever RUQ Pain Pruritis AST ALT ALP BLR Indirect BLR Direct Viral serology
Jaundice Hepatocellular Jaundice Infiltrative liver disorders: Hemochromatosis, amyloidosis + – -/+ – ↑ ↑ ↑/N ↑/N N – Ferritin ↑ (hemochromatosis) Liver biopsy
Wilson’s disease + – -/+ – ↑ ↑ N ↑/N N – ↑ Serum ceruloplasmin Liver biopsy
Viral hepatitis – -/+ – – ↑ ↑ N ↑/N N + Specific viral antibody for each type –
Alcoholic hepatitis – -/+ -/+ – ↑↑ ↑ N ↑/N N – – –
Drug induced hepatitis – -/+ – – ↑ ↑ N ↑/N N – – –
Autoimmune hepatitis -/+ – – -/+ ↑ ↑ N ↑/N N – Anti-LKM antibody Liver biopsy
Cirrhosis -/+ -/+ -/+ – ↑ ↑ ↑/N ↑/N ↑/N -/+ Low platate Small liver on ultrasond
Nonalcoholic steatohepatitis -/+ – – – ↑ ↑ N ↑/N N – Dyslipidemia liver biopsy
Ischemic hepatopathy -/+ – -/+ – ↑ ↑ N ↑/N N – Cardiovascular risk factors –
Cholestatic Jaundice Common bile duct stone -/+ – + + N N ↑ N ↑ – Dilated ducts on ultrasound CT/ERCP
Hepatitis A (cholestatic type) – -/+ + + N/↑ N/↑ ↑ N ↑ + HAV- Ab Abdominal ultrasound
EBV / CMV hepatitis – -/+ + + N N ↑ N ↑ + Positive serology –
Primary biliary cirrhosis -/+ – -/+ + N/↑ N/↑ ↑ N ↑ – AMA positive Liver biopsy
Primary sclerosing cholangitis -/+ – -/+ + N/↑ N/↑ ↑ N ↑ – ↑Autoantibodies (P-ANCA), hypergammaglobulinemia MRCP,

Liver biopsy

Sickle cell disease + – – +/- N/↑ N/↑ ↑ N ↑ – Genetic testing
Pancreatic carcinoma + – -/+ -/+ N/↑ N/↑ ↑ N ↑ – – CT scan for diagnosis
AIDS cholangiopathy – – -/+ -/+ N/↑ N/↑ ↑ N ↑ – HIV Ab Ultrasound or ERCP
Parasites induces cholestasis – – -/+ -/+ N/↑ N/↑ ↑ N ↑ – Serology Ultrasound or ERCP
Intrahepatic cholestasis of pregnancy -/+ – -/+ + ↑ ↑ ↑ N ↑ – Thrombocytopenia Diagnosed clinically
Isolated Jaundice Crigler-Najjar type 2 + – – – N N N ↑ ↑ – Genetic testing
Gilbert + – – – N N N ↑ ↑ – Genetic testing
Rotor syndrome + – – – N N N N ↑ – Genetic testing Liver biopsy
Dubin-Johnson syndrome + – – – N N N N ↑ – Genetic testing Liver biopsy
Hereditary spherocytosis + – -/+ – N N N ↑ N – Genetic testing Osmotic fragility
G6PD deficiency + – – – N N N ↑ N – Genetic testing
Thalassemia + – – – N N N ↑ N – Genetic testing
Paroxysmal nocturnal hemoglobinuria – – – – N N N ↑ N – Flocytometery
Immune hemolysis – -/+ – – N N N ↑ N – Autoantibodies
Hematoma – -/+ – – N N N ↑ N – Anemia Truma or surgery in history

References

  1. ↑ Fargo MV, Grogan SP, Saguil A (2017). “Evaluation of Jaundice in Adults”. Am Fam Physician. 95 (3): 164–168. PMID 28145671.
  2. ↑ Leevy CB, Koneru B, Klein KM (1997). “Recurrent familial prolonged intrahepatic cholestasis of pregnancy associated with chronic liver disease”. Gastroenterology. 113 (3): 966–72. PMID 9287990.
  3. ↑ Hov JR, Boberg KM, Karlsen TH (2008). “Autoantibodies in primary sclerosing cholangitis”. World J. Gastroenterol. 14 (24): 3781–91. PMC 2721433. PMID 18609700.
  4. ↑ Bond LR, Hatty SR, Horn ME, Dick M, Meire HB, Bellingham AJ (1987). “Gall stones in sickle cell disease in the United Kingdom”. Br Med J (Clin Res Ed). 295 (6592): 234–6. PMC 1247079. PMID 3115390.
  5. ↑ Malakouti M, Kataria A, Ali SK, Schenker S (2017). “Elevated Liver Enzymes in Asymptomatic Patients – What Should I Do?”. J Clin Transl Hepatol. 5 (4): 394–403. doi:10.14218/JCTH.2017.00027. PMC 5719197. PMID 29226106.

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Ahmed Elsaiey, MBBCH [2]