Liver & intrahepatic bile ducts
Metabolic diseases
Other metabolic diseases
Author: Komal Arora, M.D.
Last author update: 1 April 2012
Last staff update: 4 August 2022
Copyright: 2002-2023, PathologyOutlines.com, Inc.
PubMed Search: Cystic fibrosis liver, Erythropoietic protoporphyria liver, Niemann-Pick disease liver
See also: Lung - nontumor chapter
Cite this page: Arora K. Other metabolic diseases. PathologyOutlines.com website. https://www.pathologyoutlines.com/topic/liverothermetabolic.html. 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)
Treatment
- Ursodeoxycholic acid (Curr Opin Pulm Med 2007;13:529)
- Liver transplantation (if end stage liver disease, Am J Transplant 2012;12:954)
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
crystals
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
