PFIC liver, progressive familial intrahepatic cholestasis. What's that ?

An extremely rare congenital disease of the biliary system affecting the liver is called PFIC or progressive familial intrahepatic cholestasis.

This is characterized by increasing failure of the liver to excrete bile into the biliary tree. 

The result is increasing degrees of liver disease. 

The end stage of PFIC is liver cirrhosis and liver failure. 

This symptomatic patient came with some of the early symptoms including pruritus or itching of the skin. Biliary salts depositing in the skin is the cause. 

Ultrasound images show echogenic liver. Not too different from early fatty liver or grade 1 fatty liver. 

Being in the early stages of the disease, the above ultrasound images show nothing to suspect PFIC. 

Had a more detailed look at the portal vein. The diameter of the portal vein: 12.6 mm. Looks like a borderline dilation of the portal vein. Nothing unusual again. 

The spectral Doppler ultrasound of the portal vein is also essentially normal. 

Conclusion: early liver disease consistent with mild fatty liver. PFIC or progressive familial intrahepatic cholestasis was diagnosed by other lab tests including liver biopsy. 

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Sonography of liver