Difference between revisions of "Medical liver disease"

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==Hereditary hemochromatosis==
==Hereditary hemochromatosis==
===Epidemiology/General===
===General===
Epidemiology:
*Genetic defect.  
*Genetic defect.  
**One mutation (C282Y mutation) in up to 12.5% of people in populations of northern and central European origin.<ref name=pmid18192769>{{cite journal |author=Weinberg ED |title=Survival advantage of the hemochromatosis C282Y mutation |journal=Perspect. Biol. Med. |volume=51 |issue=1 |pages=98-102 |year=2008 |pmid=18192769 |doi=10.1353/pbm.2008.0001 |url=}}</ref>
**One mutation (C282Y mutation) in up to 12.5% of people in populations of northern and central European origin.<ref name=pmid18192769>{{cite journal |author=Weinberg ED |title=Survival advantage of the hemochromatosis C282Y mutation |journal=Perspect. Biol. Med. |volume=51 |issue=1 |pages=98-102 |year=2008 |pmid=18192769 |doi=10.1353/pbm.2008.0001 |url=}}</ref>
*Onset in males earlier than females (due to menses).
*Onset in males earlier than females (due to menses).
*Mutation thought to confer survival advantage - several theories (increased resistance to [[TB]], S. typhi vs. decr. iron def./incr. iron absorption)<ref name=pmid18192769/>
*Mutation thought to confer survival advantage - several theories (increased resistance to [[TB]], S. typhi vs. decr. iron def./incr. iron absorption)<ref name=pmid18192769/>
*May lead to [[cardiomyopathy#Restrictive cardiomyopathy|restrictive cardiomyopathy]].


===Pathophysiology===
Associated pathology:
*[[cardiomyopathy#Restrictive cardiomyopathy|Restrictive cardiomyopathy]]. (???)
*Bronze diabetes.
 
Pathophysiology:
*Iron overload --> cirrhosis.
*Iron overload --> cirrhosis.


===Microscopic===
===Microscopic===
*Periportal changes (early), i.e. no iron centrilobular.
Features:
*Periportal iron deposition (early).
**Late stage disease has diffuse iron deposition.
**Late stage disease has diffuse iron deposition.
*Brown granular -- may vaguely look like [[lipofuscin]] on [[H&E]].
*Brown granular -- may vaguely look like [[lipofuscin]] on [[H&E]].
Diagnosis suggested by positive ''iron stain''.
*Light blue haze is not enough.
**NOT siderosis -- in Kupffer cells.


Notes:  
Notes:  
*Iron in the bile ducts and endothelium used to be though specific of hereditary hemochromatosis.<ref>MG. 17 September 2009.</ref>
*Iron in the bile ducts and endothelium used to be though specific of hereditary hemochromatosis.<ref>MG. 17 September 2009.</ref>
**It is now thought to just reflect the severity of iron deposition, i.e. if the bile ducts and endothelium have iron - it is severe.
**It is now thought to just reflect the severity of iron deposition, i.e. if the bile ducts and endothelium have iron - it is severe.
DDx - secondary hemochromatosis:
*[[Myelodysplastic syndrome]].
*Chronic hemolysis.
*Alcoholic liver disease; iron deposition common in [[cirrhosis]].


Images:  
Images:  
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*[http://path.upmc.edu/cases/case77/path.html Hemochromatosis (upmc.edu)].
*[http://path.upmc.edu/cases/case77/path.html Hemochromatosis (upmc.edu)].


===DDx===
===Stains===
*[[Myelodysplastic syndrome]].
Iron stain +ve -- '''important'''.
*Chronic hemolysis.
*Light blue haze is not enough.
*Alcohol.
**Must be separated from ''siderosis'' -- iron in Kupffer cells.
 
===Molecular===
*PCR - '''diagnostic''' - see ''[[molecular pathology tests]]''.


==Wilson disease==
==Wilson disease==
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