Wilson's disease differential diagnosis

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

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

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
			History and clinical manifestations				Lab Findings						Other blood tests	Other diagnostic
			Family history	Fever	RUQ Pain	Pruritis	AST	ALT	ALP	BLR Indirect	BLR Direct	Viral serology	Other blood tests	Other diagnostic
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

↑ Fargo MV, Grogan SP, Saguil A (2017). “Evaluation of Jaundice in Adults”. Am Fam Physician. 95 (3): 164–168. PMID 28145671.
↑ 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.
↑ Hov JR, Boberg KM, Karlsen TH (2008). “Autoantibodies in primary sclerosing cholangitis”. World J. Gastroenterol. 14 (24): 3781–91. PMC 2721433. PMID 18609700.
↑ 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.
↑ 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.

[pmid28145671-1] Fargo MV, Grogan SP, Saguil A (2017). “Evaluation of Jaundice in Adults”. Am Fam Physician. 95 (3): 164–168. PMID 28145671.

[pmid9287990-2] 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.

[pmid18609700-3] Hov JR, Boberg KM, Karlsen TH (2008). “Autoantibodies in primary sclerosing cholangitis”. World J. Gastroenterol. 14 (24): 3781–91. PMC 2721433. PMID 18609700.

[pmid3115390-4] 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.

[pmid29226106-5] 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.

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