Liver & intrahepatic bile ducts

Metabolic diseases

Other metabolic diseases

Last author update: 1 April 2012
Last staff update: 4 August 2022

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PubMed Search: Cystic fibrosis liver, Erythropoietic protoporphyria liver, Niemann-Pick disease liver

See also: Lung - nontumor chapter

Komal Arora, M.D.
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Cite this page: Arora K. Other metabolic diseases. website. Accessed September 30th, 2023.
Cystic fibrosis

Definition / general
  • Most common lethal genetic disease in US of whites; affects 1 per 2,000 - 4,500 newborns
  • 1 in 20 in US are carriers; most common mutation is ΔF508 of protein that regulates chloride ion transport on chromosome #7 (seen in 70% with disease)
  • Mutations cause reduced chloride ion in secretions, thicker respiratory secretions, upper respiratory infections, late pancreatic insufficiency; also cause defective cilia and infertility, meconium ileus (5 - 10%), intussusception
  • Liver disease in 11% (Pediatr Rep 2011;3:e21)
    • May present as neonatal cholestasis
  • Children with CF liver disease have a more severe CF phenotype than do CF patients without liver disease but a subgroup will not manifest clinically significant liver disease as adults (Am J Gastroenterol 2011;106:104)


Gross description
  • Lung: emphysema, bronchiectasis, abscess
  • Liver: fibrosis

Microscopic (histologic) description
  • Macrovesicular steatosis, focal biliary cirrhosis (focal findings of inspissated granular eosinophilic, PAS positive material within portal bile ductules, chronic inflammatory infiltrate in portal tract, bile duct proliferation), cirrhosis (10% by age 25)

Electron microscopy description
  • Filamentous material in bile ducts

Additional references
Erythropoietic protoporphyria

Definition / general
  • Excess production of free protoporphyrin from the bone marrow, most commonly due to deficiency of the enzyme ferrochelatase; causes characteristic cutaneous photosensitivity and in a minority of patients leads to end stage liver disease necessitating liver transplantation (J Inherit Metab Dis 2011;34:539, World J Gastroenterol 2010;16:4526)
  • Paracrystalin protoporphyrin deposition in hepatocytes and precipitation in the biliary canaliculi
  • Prognosis depends on extent of liver disease (Orphanet J Rare Dis 2009;4:19)

Diagrams / tables

Images hosted on other servers:

Heme biosynthetic pathway

Gross images

Images hosted on other servers:

Explanted liver

Microscopic (histologic) description
  • Deep brown colored bile in canaliculi, bile ducts and Kupffer cells with red "Maltese cross" under polarized light

Microscopic (histologic) images

Images hosted on other servers:

Birefringence of
pigment deposits
due to protoporphyrin

Electron microscopy description
  • Starburst crystalline array
Niemann-Pick disease

Definition / general
  • Autosomal recessive lysosomal storage disease clinically characterized by neurodegeneration and liver disease (Wikipedia: Niemann-Pick Disease [Accessed 27 October 2017])
  • Mutations in the NPC1 and NPC2 genes cause impaired egress of free cholesterol from lysosomes, leading to accumulation of cholesterol and glycosphingolipids

Microscopic (histologic) description
  • Foamy Kupffer cells and hepatocytes

Microscopic (histologic) images

AFIP images

Foamy, vacuolated appearance

Electron microscopy description
  • Intralysosomal myelin-like inclusions

Additional references
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