Cystic Fibrosis, Hepatic

 Most common lethal autosomal recessive inherited disorder in Caucasian population



• CFTR mutation on chromosome 7
image Abnormal chloride transport in apical membrane of epithelial cells




Clinical Issues




• 1 in 2,000-2,500 live births
• Respiratory complaints are common presentation

image Patients rarely present initially with liver disease

– Up to 40% of affected adolescents have evidence of liver disease

– Cirrhosis accounts for virtually all nonpulmonary deaths in cystic fibrosis (CF)

image As life expectancy increases, hepatobiliary disease in CF more often recognized


Microscopic




• Focal biliary fibrosis is characteristic lesion
image Dilated, proliferated bile ductules

image Dense secretions/concretions represent abnormal secretions of CF

image PAS positive (diastase resistant); mucicarmine and Alcian blue negative

• Fibrous, expanded portal tracts with variable inflammation
image Disease may progress to multilobular biliary cirrhosis


Top Differential Diagnoses




• Primary sclerosing cholangitis (PSC)
image PSC and CF may mimic each other on ERCP

• Neonatal hepatitis of other causes

image
Expanded Portal Tract
At low power, this liver biopsy from a patient with cystic fibrosis shows irregular proliferating bile ductules embedded in an expanded, fibrotic portal tract. Abnormal pink-to-brown secretions (concretions) image can be seen within the ductules.


image
Ductules With Abnormal Secretions
The ductular reaction can be very pronounced. Abnormal secretions (concretions) image can be seen within the ductules. Note the surrounding fibrosis as well.

image
Inspissated Eosinophilic Secretions
High-power view shows a portal tract with numerous bile ductules containing inspissated, amorphous, eosinophilic secretions image .

image
Multilobular Biliary Cirrhosis
Expanded fibrotic portal tracts may ultimately become confluent, producing irregular zones of fibrosis with proliferated, dilated bile ductules. A nodule of liver parenchyma image is seen on the right. This pattern may be referred to as multilobular biliary cirrhosis.


TERMINOLOGY


Abbreviations




• Cystic fibrosis (CF)


Synonyms




• Mucoviscidosis


Definitions




• Generalized inherited disorder of exocrine gland function
image Impairs clearance of secretions in multiple organs

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Apr 20, 2017 | Posted by in PATHOLOGY & LABORATORY MEDICINE | Comments Off on Cystic Fibrosis, Hepatic
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